Variant report

Variant	esv2758169
Chromosome Location	chr8:119943309-120275750
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3035)
CpG islands
(count:3239)
Chromatin interactive
region (count:117)
LncRNA
region (count:25)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:3035 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:120098703-120098968	HepG2	liver:	n/a	n/a
2	ARID3A	chr8:120221560-120222090	HepG2	liver:	n/a	n/a
3	ARID3A	chr8:120231528-120231846	HepG2	liver:	n/a	n/a
4	ARID3A	chr8:120149481-120149759	HepG2	liver:	n/a	n/a
5	ARID3A	chr8:120124610-120125001	HepG2	liver:	n/a	chr8:120124823-120124839
6	ARID3A	chr8:120238684-120238993	HepG2	liver:	n/a	n/a
7	ARID3A	chr8:120221311-120221313	HepG2	liver:	n/a	n/a
8	ARID3A	chr8:120244470-120244831	HepG2	liver:	n/a	n/a
9	ATF1	chr8:119967583-119967759	K562	blood:	n/a	n/a
10	ATF2	chr8:120220255-120220619	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr8:119970987-119971630	GM12878	blood:	n/a	n/a
12	ATF2	chr8:120221817-120222204	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr8:119970998-119971666	GM12878	blood:	n/a	n/a
14	ATF2	chr8:120055448-120055888	GM12878	blood:	n/a	n/a
15	ATF2	chr8:120221637-120222234	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF3	chr8:120220278-120220621	H1-hESC	embryonic stem cell:	n/a	chr8:120220554-120220563 chr8:120220545-120220565
17	ATF3	chr8:120220315-120220714	HepG2	liver:	n/a	chr8:120220554-120220563 chr8:120220545-120220565
18	ATF3	chr8:120220249-120220616	H1-hESC	embryonic stem cell:	n/a	chr8:120220554-120220563 chr8:120220545-120220565
19	BACH1	chr8:120106068-120106789	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr8:120106270-120106470	K562	blood:	n/a	n/a
21	BACH1	chr8:120219974-120220620	H1-hESC	embryonic stem cell:	n/a	n/a
22	BATF	chr8:119971051-119971635	GM12878	blood:	n/a	chr8:119971208-119971218 chr8:119971533-119971542
23	BATF	chr8:120084307-120084565	GM12878	blood:	n/a	n/a
24	BATF	chr8:120084212-120084619	GM12878	blood:	n/a	n/a
25	BATF	chr8:120055428-120055737	GM12878	blood:	n/a	chr8:120055609-120055620
26	BATF	chr8:120055445-120055833	GM12878	blood:	n/a	chr8:120055609-120055620
27	BATF	chr8:120128750-120128969	GM12878	blood:	n/a	chr8:120128853-120128864
28	BATF	chr8:119971058-119971376	GM12878	blood:	n/a	chr8:119971208-119971218
29	BATF	chr8:120058292-120058497	GM12878	blood:	n/a	chr8:120058418-120058429
30	BCL11A	chr8:120130533-120130695	GM12878	blood:	n/a	n/a
31	BCL11A	chr8:119971062-119971495	GM12878	blood:	n/a	n/a
32	BCLAF1	chr8:119971064-119971627	GM12878	blood:	n/a	n/a
33	BHLHE40	chr8:120220165-120222098	HepG2	liver:	n/a	n/a
34	BHLHE40	chr8:120084277-120084641	GM12878	blood:	n/a	n/a
35	BHLHE40	chr8:120055467-120055902	GM12878	blood:	n/a	n/a
36	BHLHE40	chr8:120220343-120220674	HepG2	liver:	n/a	n/a
37	BHLHE40	chr8:119963652-119964792	GM12878	blood:	n/a	chr8:119964407-119964423
38	BHLHE40	chr8:120220433-120220548	GM12878	blood:	n/a	n/a
39	BHLHE40	chr8:119971110-119971612	GM12878	blood:	n/a	n/a
40	BHLHE40	chr8:120009066-120009211	GM12878	blood:	n/a	n/a
41	BRCA1	chr8:120189187-120190053	Hela-S3	cervix:	n/a	n/a
42	BRCA1	chr8:120218985-120219728	Hela-S3	cervix:	n/a	n/a
43	BRCA1	chr8:120212960-120213548	Hela-S3	cervix:	n/a	n/a
44	BRCA1	chr8:120062894-120063284	Hela-S3	cervix:	n/a	n/a
45	BRCA1	chr8:120190403-120191366	Hela-S3	cervix:	n/a	chr8:120191132-120191139
46	BRCA1	chr8:120098611-120098966	Hela-S3	cervix:	n/a	n/a
47	BRCA1	chr8:120257093-120257099	H1-hESC	embryonic stem cell:	n/a	n/a
48	BRCA1	chr8:120215374-120215992	Hela-S3	cervix:	n/a	n/a
49	BRCA1	chr8:120063574-120064140	Hela-S3	cervix:	n/a	n/a
50	BRCA1	chr8:119973622-119974608	Hela-S3	cervix:	n/a	n/a

(count:3239 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:120221268-120221318	MCF-7	breast:	n/a
2	chr8:119963842-119963892	U87	brain:	n/a
3	chr8:120007022-120007072	HAEpiC	amniotic membrane:	n/a
4	chr8:120220799-120220849	AG10803	skin:	n/a
5	chr8:119963842-119963892	HPAEpiC	pulmonary alveolar:	n/a
6	chr8:120221268-120221318	GM12891	blood:	n/a
7	chr8:120221268-120221318	MCF-7	breast:	n/a
8	chr8:119963842-119963892	U87	brain:	n/a
9	chr8:120007022-120007072	HAEpiC	amniotic membrane:	n/a
10	chr8:120220799-120220849	AG10803	skin:	n/a
11	chr8:119963842-119963892	HPAEpiC	pulmonary alveolar:	n/a
12	chr8:120221268-120221318	GM12891	blood:	n/a
13	chr8:119964037-119964087	LNCaP	prostate:	n/a
14	chr8:119963842-119963892	BE2_C	brain:	n/a
15	chr8:120220131-120220181	GM06990	blood:	n/a
16	chr8:120246491-120246541	ovcar-3	ovarian:	n/a
17	chr8:119963842-119963892	ECC-1	luminal epithelium:	n/a
18	chr8:120066282-120066332	BE2_C	brain:	n/a
19	chr8:120058222-120058272	PANC-1	pancreas:	n/a
20	chr8:120106427-120106477	GM06990	blood:	n/a
21	chr8:120221797-120221847	Hela-S3	cervix:	n/a
22	chr8:119964630-119964680	K562	blood:	n/a
23	chr8:120246491-120246541	GM12892	blood:	n/a
24	chr8:120219927-120219977	NB4	blood:	n/a
25	chr8:120079625-120079675	GM12878	blood:	n/a
26	chr8:119964565-119964615	HCT-116	colon:	n/a
27	chr8:120223866-120223916	HCF	heart:	n/a
28	chr8:120220856-120220906	Hela-S3	cervix:	n/a
29	chr8:120137099-120137149	HEEpiC	esophagus:	n/a
30	chr8:120137099-120137149	AG04449	skin:	fetal
31	chr8:120220462-120220512	K562	blood:	n/a
32	chr8:119960777-119960827	HMEC	breast:	n/a
33	chr8:120220050-120220100	Jurkat	blood:	n/a
34	chr8:119964636-119964686	PFSK-1	brain:	n/a
35	chr8:120246446-120246496	HPAEpiC	pulmonary alveolar:	n/a
36	chr8:120082684-120082734	PANC-1	pancreas:	n/a
37	chr8:120220050-120220100	RPTEC	kidney:	n/a
38	chr8:120078803-120078853	K562	blood:	n/a
39	chr8:119964248-119964298	T-47D	breast:	n/a
40	chr8:120118684-120118734	RPTEC	kidney:	n/a
41	chr8:120220856-120220906	NB4	blood:	n/a
42	chr8:120223866-120223916	BE2_C	brain:	n/a
43	chr8:120220050-120220100	SAEC	small airway:	n/a
44	chr8:120220410-120220460	SAEC	small airway:	n/a
45	chr8:119964569-119964619	SK-N-MC	brain:	n/a
46	chr8:120079173-120079223	HepG2	liver:	n/a
47	chr8:119960777-119960827	GM12878	blood:	n/a
48	chr8:119964037-119964087	AoSMC	blood vessel:	n/a
49	chr8:120246446-120246496	T-47D	breast:	n/a
50	chr8:120082684-120082734	Caco-2	colon:	n/a

(count:117 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr8:120097813..120100661-chr8:120254191..120255836,2	MCF-7	breast:
2	chr8:119942588..119945427-chr8:119950243..119953454,3	MCF-7	breast:
3	chr8:120123252..120128065-chr8:120218865..120222398,4	MCF-7	breast:
4	chr8:120183437..120185122-chr8:120187205..120189919,2	MCF-7	breast:
5	chr8:120123624..120126325-chr8:120143117..120145371,2	MCF-7	breast:
6	chr8:120098391..120099543-chr8:120449221..120451236,7	MCF-7	breast:
7	chr17:56707810..56710447-chr8:120218962..120221628,2	MCF-7	breast:
8	chr8:120042204..120043782-chr8:120062419..120064924,2	MCF-7	breast:
9	chr8:120097671..120100491-chr8:120108931..120111422,2	MCF-7	breast:
10	chr8:120027926..120030445-chr8:120032552..120034631,2	MCF-7	breast:
11	chr8:120230549..120233126-chr8:120235489..120237736,3	MCF-7	breast:
12	chr8:120098847..120099676-chr8:120275630..120276334,2	MCF-7	breast:
13	chr8:120142730..120146015-chr8:120146063..120149096,3	MCF-7	breast:
14	chr8:120157195..120160231-chr8:120218744..120222756,4	MCF-7	breast:
15	chr8:119962985..119964891-chr8:119989439..119991458,2	K562	blood:
16	chr2:172290246..172291840-chr8:119977320..119979551,2	MCF-7	breast:
17	chr8:120200173..120202923-chr8:120203330..120204957,2	MCF-7	breast:
18	chr8:120142730..120146015-chr8:120146063..120149096,3	MCF-7	breast:
19	chr8:120124264..120124843-chr8:120145286..120146057,2	MCF-7	breast:
20	chr8:120183937..120185450-chr8:120190160..120192136,2	MCF-7	breast:
21	chr8:119962454..119964132-chr8:120061340..120063635,2	MCF-7	breast:
22	chr8:119961719..119966246-chr8:119966931..119971786,6	MCF-7	breast:
23	chr8:119953257..119955097-chr8:119973674..119975994,2	MCF-7	breast:
24	chr8:119823824..119824625-chr8:119989760..119990591,2	MCF-7	breast:
25	chr17:57923593..57925811-chr8:120219201..120221264,2	MCF-7	breast:
26	chr8:120220575..120222565-chr8:120225653..120227194,2	MCF-7	breast:
27	chr8:120189628..120192008-chr8:120202679..120205401,2	MCF-7	breast:
28	chr8:119962810..119964711-chr8:120065002..120066767,2	MCF-7	breast:
29	chr8:120210402..120213161-chr8:120216090..120218568,2	MCF-7	breast:
30	chr8:119979834..119981911-chr8:119984598..119986134,2	K562	blood:
31	chr8:119976393..119979108-chr8:119979749..119981302,2	MCF-7	breast:
32	chr8:120097813..120100661-chr8:120254191..120255836,2	MCF-7	breast:
33	chr8:119954564..119956435-chr8:119966644..119968615,2	MCF-7	breast:
34	chr8:120098923..120102806-chr8:120218978..120221966,5	MCF-7	breast:
35	chr8:119968808..119970623-chr8:119972965..119975442,2	MCF-7	breast:
36	chr8:120251209..120253712-chr8:120254594..120256942,2	MCF-7	breast:
37	chr8:120187373..120189536-chr8:120204658..120206608,2	MCF-7	breast:
38	chr8:120204603..120206693-chr8:120219311..120221243,2	MCF-7	breast:
39	chr8:119945636..119947997-chr8:119950080..119952561,2	MCF-7	breast:
40	chr8:120098799..120099368-chr8:120366034..120366970,2	MCF-7	breast:
41	chr8:120200173..120202923-chr8:120203330..120204957,2	MCF-7	breast:
42	chr8:119887309..119888948-chr8:119953395..119955293,2	MCF-7	breast:
43	chr8:120251209..120253712-chr8:120254594..120256942,2	MCF-7	breast:
44	chr8:120196776..120198484-chr8:120200071..120201640,2	MCF-7	breast:
45	chr8:120211698..120216543-chr8:120218864..120221677,6	MCF-7	breast:
46	chr8:120219693..120225456-chr8:120227472..120242098,24	MCF-7	breast:
47	chr8:119953709..119955888-chr8:119962661..119965508,2	MCF-7	breast:
48	chr8:120210122..120216646-chr8:120218897..120222949,8	MCF-7	breast:
49	chr8:120230549..120233126-chr8:120235489..120237736,3	MCF-7	breast:
50	chr5:43483317..43484109-chr8:120219923..120220769,2	Hela-S3	cervix:

(count:25 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TNFRSF11B-2	chr8:120227351-120227799	ENSG00000253972
2	lnc-TNFRSF11B-2	chr8:120227412-120227867	ENSG00000253972
3	lnc-TNFRSF11B-2	chr8:120256535-120256570	ENSG00000253972
4	lnc-NOV-1	chr8:120049750-120049842	XLOC_006908
5	lnc-TNFRSF11B-2	chr8:120235524-120235627	ENSG00000253972
6	lnc-TNFRSF11B-3	chr8:119994818-119995114	NONHSAT128417
7	lnc-TNFRSF11B-2	chr8:120257050-120257082	ENSG00000253972
8	lnc-TNFRSF11B-2	chr8:120258970-120259083	ENSG00000253972
9	lnc-TNFRSF11B-2	chr8:120236044-120236239	ENSG00000253972
10	lnc-TNFRSF11B-2	chr8:120258970-120259076	ENSG00000253972
11	lnc-TNFRSF11B-2	chr8:120256535-120256570	ENSG00000253972
12	lnc-TNFRSF11B-2	chr8:120257050-120257215	ENSG00000253972
13	lnc-TNFRSF11B-2	chr8:120258970-120259088	ENSG00000253972
14	lnc-TNFRSF11B-1	chr8:120075181-120075479	ENSG00000254278.1
15	lnc-TNFRSF11B-2	chr8:120236490-120236552	ENSG00000253972
16	lnc-TNFRSF11B-1	chr8:120079913-120081021	ENSG00000254278.1
17	lnc-TNFRSF11B-2	chr8:120256535-120256570	ENSG00000253972
18	lnc-TNFRSF11B-2	chr8:120227778-120227867	ENSG00000253972
19	lnc-NOV-1	chr8:120050294-120050454	XLOC_006908
20	lnc-TNFRSF11B-2	chr8:120258970-120259055	ENSG00000253972
21	lnc-TNFRSF11B-2	chr8:120236490-120236552	ENSG00000253972
22	lnc-TNFRSF11B-2	chr8:120233334-120233647	ENSG00000253972
23	lnc-TNFRSF11B-2	chr8:120258970-120259083	ENSG00000253972
24	lnc-TNFRSF11B-2	chr8:120235524-120235627	ENSG00000253972
25	lnc-TNFRSF11B-2	chr8:120233483-120233647	ENSG00000253972

No data

(count:1 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	COLEC10	hsa-miR-335-5p	chr8:120119169-120119191

Variant related genes	Relation type
ENSG00000253972	TF binding region
MAL2	TF binding region
COLEC10	TF binding region
TNFRSF11B	TF binding region
RNU6-12P	TF binding region
ENSG00000254247	TF binding region
ENSG00000254278	TF binding region
ENSG00000253972	CpG island
MAL2	CpG island
COLEC10	CpG island
TNFRSF11B	CpG island
RNU6-12P	CpG island
ENSG00000254247	CpG island
ENSG00000254278	CpG island
ENSG00000253603	chromatin interactions
ENSG00000254247	chromatin interactions
ENSG00000008988	chromatin interactions
ENSG00000123600	chromatin interactions
ENSG00000249492	chromatin interactions
ENSG00000147676	chromatin interactions
ENSG00000164761	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000238650	chromatin interactions
ENSG00000151881	chromatin interactions
ENSG00000115827	chromatin interactions
ENSG00000201524	chromatin interactions

Extended variants
information (count: 11266 )
Associated
traits (count: 149 )

Variant overlapped rSNPs/rCNVs (count:11266 , 50 per page) page: 1 2 3 4 5 6 7 ... 226

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190194162	chr8:119943338-119943339	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs182766730	chr8:119943373-119943374	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs560182002	chr8:119943382-119943383	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs202010324	chr8:119943394-119943395	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs527861607	chr8:119943407-119943408	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs548669099	chr8:119943462-119943463	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs386729200	chr8:119943502-119943503	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs11573911	chr8:119943503-119943504	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs550033653	chr8:119943568-119943569	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs187422485	chr8:119943583-119943584	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs559191405	chr8:119943585-119943586	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs138071529	chr8:119943587-119943588	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs547318055	chr8:119943600-119943601	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs139959254	chr8:119943632-119943633	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs565891590	chr8:119943658-119943659	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs3134051	chr8:119943681-119943682	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs149537284	chr8:119943725-119943726	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs555922300	chr8:119943757-119943758	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs145987141	chr8:119943761-119943762	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs574052532	chr8:119943767-119943768	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs11573909	chr8:119943871-119943872	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs1872425	chr8:119943914-119943915	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs192321662	chr8:119943998-119943999	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs545691784	chr8:119944022-119944023	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs560431996	chr8:119944064-119944065	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs3134052	chr8:119944128-119944129	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs138660548	chr8:119944129-119944130	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs542281127	chr8:119944178-119944179	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs34002084	chr8:119944253-119944254	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs560683593	chr8:119944290-119944291	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs531185774	chr8:119944308-119944309	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs11573908	chr8:119944348-119944349	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs549557398	chr8:119944363-119944364	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs11573907	chr8:119944396-119944397	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs565177547	chr8:119944411-119944412	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs882763	chr8:119944451-119944452	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs371246488	chr8:119944595-119944596	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs547672124	chr8:119944625-119944626	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs565852041	chr8:119944698-119944699	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs185749383	chr8:119944723-119944724	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs187837674	chr8:119944746-119944747	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs567790480	chr8:119944774-119944775	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs538237718	chr8:119944781-119944782	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs192450051	chr8:119944794-119944795	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs577970822	chr8:119944838-119944839	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs369863026	chr8:119944865-119944866	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538932789	chr8:119944873-119944874	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73709383	chr8:119944879-119944880	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs556999853	chr8:119944885-119944886	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs5894464	chr8:119944900-119944901	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:149)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	18698023	CNVD
Multiple myeloma	16461302	CNVD
Uveal melanoma	20484589	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Breast cancer	19181860	CNVD
Endometrial cancer	23636398	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Prostate cancer	22341455	CNVD
Osteosarcoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Gastric cancer	22014070	CNVD
Colorectal cancer	21645411	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:2315 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119928800-119956600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr8:119929200-119947400	Weak transcription	NH-A	brain
3	chr8:119934600-119944000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:119934800-119947400	Weak transcription	Adipose Nuclei	Adipose
5	chr8:119934800-119948000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:119935000-119956600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr8:119935200-119943600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr8:119935600-119948000	Weak transcription	Left Ventricle	heart
9	chr8:119936200-119948000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:119936600-119946800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:119937000-119943600	Strong transcription	NHDF-Ad	bronchial
12	chr8:119937000-119945200	Weak transcription	Lung	lung
13	chr8:119937000-119948000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:119939400-119958400	Weak transcription	Fetal Lung	lung
15	chr8:119940200-119943400	Weak transcription	Fetal Kidney	kidney
16	chr8:119940600-119945000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:119940600-119945200	Weak transcription	Right Ventricle	heart
18	chr8:119941000-119944800	Weak transcription	HSMM	muscle
19	chr8:119941200-119944800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:119941200-119953400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:119941400-119943800	Weak transcription	HSMMtube	muscle
22	chr8:119941400-119944400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:119941600-119945000	Weak transcription	Aorta	Aorta
24	chr8:119941600-119947200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr8:119942000-119945400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr8:119942000-119947400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr8:119942400-119943600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:119942400-119946000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr8:119942400-119947200	Weak transcription	Hela-S3	cervix
30	chr8:119942600-119945000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr8:119942800-119943600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:119942800-119945600	Strong transcription	Fetal Intestine Large	intestine
33	chr8:119943000-119944000	Weak transcription	Fetal Intestine Small	intestine
34	chr8:119943000-119944400	Strong transcription	NHLF	lung
35	chr8:119943200-119944200	Enhancers	Liver	Liver
36	chr8:119943200-119945200	Genic enhancers	Osteobl	bone
37	chr8:119943600-119943800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:119943600-119944000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:119943600-119945200	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr8:119943600-119945200	Genic enhancers	NHDF-Ad	bronchial
41	chr8:119943800-119944000	Enhancers	HSMMtube	muscle
42	chr8:119943800-119944600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:119944000-119944400	Strong transcription	Fetal Intestine Small	intestine
44	chr8:119944000-119944400	Weak transcription	HSMMtube	muscle
45	chr8:119944000-119944600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:119944000-119944600	Enhancers	Fetal Heart	heart
47	chr8:119944000-119945400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:119944400-119944600	Enhancers	HSMMtube	muscle
49	chr8:119944400-119944800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:119944400-119945400	Genic enhancers	NHLF	lung

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