Variant report

Variant	nsv890849
Chromosome Location	chr8:48644337-48671294
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1309)
CpG islands
(count:1160)
Chromatin interactive
region (count:71)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:1309 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:48647745-48648106	HepG2	liver:	n/a	n/a
2	ARID3A	chr8:48647857-48648254	K562	blood:	n/a	n/a
3	ARID3A	chr8:48670787-48671196	HepG2	liver:	n/a	n/a
4	ARID3A	chr8:48651502-48651743	HepG2	liver:	n/a	n/a
5	ATF3	chr8:48650381-48650785	A549	lung:	n/a	chr8:48650775-48650784 chr8:48650763-48650783
6	BACH1	chr8:48647451-48647482	K562	blood:	n/a	n/a
7	BACH1	chr8:48649827-48650099	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr8:48651110-48651666	H1-hESC	embryonic stem cell:	n/a	n/a
9	BCL3	chr8:48647363-48648341	A549	lung:	n/a	chr8:48647480-48647489
10	BCL3	chr8:48664526-48664933	A549	lung:	n/a	n/a
11	BCL3	chr8:48664484-48664980	A549	lung:	n/a	n/a
12	BCL3	chr8:48647655-48648215	A549	lung:	n/a	n/a
13	BHLHE40	chr8:48651101-48651263	K562	blood:	n/a	n/a
14	BHLHE40	chr8:48647879-48647972	K562	blood:	n/a	n/a
15	BHLHE40	chr8:48650988-48651213	GM12878	blood:	n/a	n/a
16	BHLHE40	chr8:48651445-48651785	GM12878	blood:	n/a	chr8:48651588-48651604
17	BHLHE40	chr8:48651540-48651740	K562	blood:	n/a	chr8:48651588-48651604
18	BRCA1	chr8:48651371-48651395	GM12878	blood:	n/a	n/a
19	BRCA1	chr8:48651482-48651879	H1-hESC	embryonic stem cell:	n/a	n/a
20	BRCA1	chr8:48651534-48651831	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr8:48647697-48647810	HepG2	liver:	n/a	n/a
22	BRCA1	chr8:48649229-48649992	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr8:48651625-48651701	GM12878	blood:	n/a	n/a
24	CBX3	chr8:48651428-48651796	K562	blood:	n/a	chr8:48651685-48651696
25	CBX3	chr8:48647511-48648174	K562	blood:	n/a	n/a
26	CCNT2	chr8:48649295-48651679	K562	blood:	n/a	chr8:48651557-48651566 chr8:48649336-48649345
27	CEBPB	chr8:48651491-48651811	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr8:48650156-48651201	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr8:48647870-48648195	HepG2	liver:	n/a	n/a
30	CEBPB	chr8:48647938-48648137	HepG2	liver:	n/a	n/a
31	CEBPB	chr8:48670784-48671014	HepG2	liver:	n/a	n/a
32	CEBPB	chr8:48651486-48651810	Hela-S3	cervix:	n/a	n/a
33	CEBPD	chr8:48647744-48648073	HepG2	liver:	n/a	n/a
34	CEBPD	chr8:48650511-48651094	HepG2	liver:	n/a	n/a
35	CEBPD	chr8:48650609-48650844	HepG2	liver:	n/a	n/a
36	CHD1	chr8:48650984-48651104	GM12878	blood:	n/a	n/a
37	CHD1	chr8:48651413-48651731	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD1	chr8:48646180-48652097	IMR90	lung:	n/a	chr8:48649081-48649091 chr8:48650773-48650783 chr8:48651231-48651241
39	CHD1	chr8:48649611-48650051	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD1	chr8:48651547-48651784	GM12878	blood:	n/a	n/a
41	CHD2	chr8:48648798-48651748	Hela-S3	cervix:	n/a	chr8:48649081-48649091 chr8:48650773-48650783 chr8:48651231-48651241
42	CHD2	chr8:48647624-48647723	K562	blood:	n/a	n/a
43	CHD2	chr8:48650399-48650593	HepG2	liver:	n/a	n/a
44	CHD2	chr8:48649899-48650145	GM12878	blood:	n/a	n/a
45	CHD2	chr8:48651480-48651745	HepG2	liver:	n/a	n/a
46	CHD2	chr8:48649781-48650105	K562	blood:	n/a	n/a
47	CHD2	chr8:48651481-48651666	GM12878	blood:	n/a	n/a
48	CHD2	chr8:48649896-48650135	HepG2	liver:	n/a	n/a
49	CHD2	chr8:48664950-48665007	H1-hESC	embryonic stem cell:	n/a	n/a
50	CHD2	chr8:48651392-48651769	H1-hESC	embryonic stem cell:	n/a	n/a

(count:1160 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:48647583-48647633	NT2-D1	testis:	n/a
2	chr8:48647583-48647633	NT2-D1	testis:	n/a
3	chr8:48652327-48652377	BE2_C	brain:	n/a
4	chr8:48652327-48652377	PFSK-1	brain:	n/a
5	chr8:48650727-48650777	MCF-7	breast:	n/a
6	chr8:48651311-48651361	HAEpiC	amniotic membrane:	n/a
7	chr8:48649326-48649376	SAEC	small airway:	n/a
8	chr8:48649326-48649376	AG09309	skin:	n/a
9	chr8:48651122-48651172	NHBE	bronchial:	n/a
10	chr8:48651311-48651361	AG10803	skin:	n/a
11	chr8:48652327-48652377	HL-60	blood:	n/a
12	chr8:48649457-48649507	HMEC	breast:	n/a
13	chr8:48648813-48648863	NHDF-neo	bronchial:	n/a
14	chr8:48651122-48651172	HEEpiC	esophagus:	n/a
15	chr8:48651122-48651172	AG04450	lung:	fetal
16	chr8:48652327-48652377	HIPEpiC	eye:	n/a
17	chr8:48647583-48647633	AG10803	skin:	n/a
18	chr8:48647583-48647633	CMK	blood:	n/a
19	chr8:48651311-48651361	Hela-S3	cervix:	n/a
20	chr8:48651122-48651172	HNPCEpiC	eye:	n/a
21	chr8:48650705-48650755	MCF-7	breast:	n/a
22	chr8:48654011-48654061	Caco-2	colon:	n/a
23	chr8:48649767-48649817	HCT-116	colon:	n/a
24	chr8:48651311-48651361	HRE	kidney:	n/a
25	chr8:48652327-48652377	K562	blood:	n/a
26	chr8:48650745-48650795	BJ	skin:	n/a
27	chr8:48649457-48649507	AG04450	lung:	fetal
28	chr8:48649326-48649376	HNPCEpiC	eye:	n/a
29	chr8:48648874-48648924	AG10803	skin:	n/a
30	chr8:48650727-48650777	SKMC	muscle:	n/a
31	chr8:48654011-48654061	IMR90	lung:	fetal
32	chr8:48656349-48656399	BJ	skin:	n/a
33	chr8:48651122-48651172	HCM	heart:	n/a
34	chr8:48651311-48651361	LNCaP	prostate:	n/a
35	chr8:48648813-48648863	NB4	blood:	n/a
36	chr8:48650745-48650795	HEEpiC	esophagus:	n/a
37	chr8:48647583-48647633	Hela-S3	cervix:	n/a
38	chr8:48650705-48650755	AG10803	skin:	n/a
39	chr8:48647583-48647633	K562	blood:	n/a
40	chr8:48650745-48650795	MCF10A-Er-Src	breast:	n/a
41	chr8:48654011-48654061	SK-N-MC	brain:	n/a
42	chr8:48650727-48650777	GM06990	blood:	n/a
43	chr8:48650745-48650795	HMEC	breast:	n/a
44	chr8:48647583-48647633	ovcar-3	ovarian:	n/a
45	chr8:48647583-48647633	NHBE	bronchial:	n/a
46	chr8:48656349-48656399	AG09319	gingival:	n/a
47	chr8:48647583-48647633	HCPEpiC	choroid plexus:	n/a
48	chr8:48651635-48651685	NHBE	bronchial:	n/a
49	chr8:48650989-48651039	Hepatocyte	liver:	n/a
50	chr8:48650745-48650795	GM19239	blood:	n/a

(count:71 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr8:48416787..48427648-chr8:48644938..48653304,27	MCF-7	breast:
2	chr8:48114948..48116858-chr8:48648714..48650275,2	K562	blood:
3	chr8:48645599..48648467-chr8:48653903..48656784,2	K562	blood:
4	chr8:48516477..48519191-chr8:48648055..48649779,2	MCF-7	breast:
5	chr3:63849357..63850128-chr8:48650428..48651007,2	MCF-7	breast:
6	chr8:48432437..48435065-chr8:48648132..48650719,4	MCF-7	breast:
7	chr8:48573288..48575298-chr8:48647992..48650663,2	MCF-7	breast:
8	chr8:48647567..48648349-chr8:128806480..128807292,2	NB4	blood:
9	chr8:48565250..48566861-chr8:48648716..48650619,2	MCF-7	breast:
10	chr8:48604118..48606362-chr8:48646614..48648763,2	MCF-7	breast:
11	chr8:48171892..48175366-chr8:48649107..48652421,3	K562	blood:
12	chr21:37692157..37692997-chr8:48647571..48648363,2	NB4	blood:
13	chr8:48300186..48303081-chr8:48648494..48650857,2	MCF-7	breast:
14	chr8:48218179..48220522-chr8:48649833..48651549,2	MCF-7	breast:
15	chr8:48222564..48225151-chr8:48648619..48650407,2	MCF-7	breast:
16	chr8:48112895..48115020-chr8:48649456..48652185,2	K562	blood:
17	chr8:48518004..48520090-chr8:48648537..48650198,2	K562	blood:
18	chr8:48649649..48652012-chr8:48661359..48663149,3	MCF-7	breast:
19	chr8:48433892..48441630-chr8:48644198..48652247,18	MCF-7	breast:
20	chr8:48616670..48620929-chr8:48647842..48650845,3	MCF-7	breast:
21	chr8:48282165..48284345-chr8:48648892..48650703,2	MCF-7	breast:
22	chr8:48113591..48116230-chr8:48649014..48651468,2	MCF-7	breast:
23	chr19:40476362..40476867-chr8:48650522..48651379,2	Hela-S3	cervix:
24	chr8:48575452..48577775-chr8:48649068..48651275,2	K562	blood:
25	chr8:48589240..48591500-chr8:48645900..48648836,2	MCF-7	breast:
26	chr8:48648988..48650565-chr8:48654492..48656247,2	K562	blood:
27	chr8:48611140..48612961-chr8:48649084..48651075,2	MCF-7	breast:
28	chr8:48627320..48629961-chr8:48647561..48650281,2	MCF-7	breast:
29	chr8:48648550..48651085-chr8:48656701..48659143,2	K562	blood:
30	chr8:48648550..48651085-chr8:48656701..48659143,2	K562	blood:
31	chr8:48649183..48653409-chr8:48654511..48657772,8	MCF-7	breast:
32	chr8:48649560..48652058-chr8:48659068..48660990,2	MCF-7	breast:
33	chr8:48571020..48572523-chr8:48650365..48652333,2	MCF-7	breast:
34	chr8:48293039..48294618-chr8:48649399..48651169,2	MCF-7	breast:
35	chr8:48287238..48289798-chr8:48645955..48647701,2	MCF-7	breast:
36	chr8:48651251..48652796-chr8:48662762..48664570,2	K562	blood:
37	chr8:48580254..48581867-chr8:48649171..48651627,2	MCF-7	breast:
38	chr19:10362571..10363085-chr8:48650526..48651032,2	NB4	blood:
39	chr8:48635174..48641893-chr8:48648550..48652485,8	MCF-7	breast:
40	chr8:48431409..48434183-chr8:48649405..48651632,3	K562	blood:
41	chr8:48651159..48652761-chr8:48657734..48659657,2	K562	blood:
42	chr8:48353630..48357760-chr8:48647568..48650478,4	MCF-7	breast:
43	chr8:48559530..48561165-chr8:48648021..48650410,3	K562	blood:
44	chr8:48645599..48648467-chr8:48653903..48656784,2	K562	blood:
45	chr8:48516911..48521430-chr8:48646759..48650653,4	K562	blood:
46	chr8:48409859..48412795-chr8:48648152..48651126,2	MCF-7	breast:
47	chr8:48170516..48173662-chr8:48648596..48652534,4	MCF-7	breast:
48	chr8:48456575..48460862-chr8:48649112..48652176,5	MCF-7	breast:
49	chr8:48223569..48225954-chr8:48642409..48644484,2	MCF-7	breast:
50	chr8:48648988..48650565-chr8:48654492..48656247,2	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	CEBPD	hsa-miR-98-5p	chr8:48649834-48649828

Variant related genes	Relation type
CEBPD	TF binding region
SPIDR	TF binding region
CEBPD	CpG island
SPIDR	CpG island
ENSG00000215177	chromatin interactions
ENSG00000251354	chromatin interactions
ENSG00000163634	chromatin interactions
ENSG00000164808	chromatin interactions
ENSG00000249859	chromatin interactions
ENSG00000273199	chromatin interactions
ENSG00000171729	chromatin interactions
ENSG00000269924	chromatin interactions
ENSG00000129514	chromatin interactions
ENSG00000221869	chromatin interactions
ENSG00000207369	chromatin interactions
ENSG00000253729	chromatin interactions
ENSG00000105364	chromatin interactions
ENSG00000159256	chromatin interactions
ENSG00000253330	chromatin interactions

Extended variants
information (count: 945 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:945 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13277496	chr8:48644337-48644338	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs550070828	chr8:48644340-48644341	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs577934448	chr8:48644350-48644351	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs532154083	chr8:48644371-48644372	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs191621124	chr8:48644393-48644394	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs576054588	chr8:48644415-48644416	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs144040463	chr8:48644470-48644471	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs535448202	chr8:48644474-48644475	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs148679604	chr8:48644489-48644490	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs371593177	chr8:48644507-48644508	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs115516927	chr8:48644514-48644515	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs541096604	chr8:48644521-48644522	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs151229647	chr8:48644528-48644529	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs571843751	chr8:48644589-48644590	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs552287994	chr8:48644662-48644663	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs569024856	chr8:48644667-48644668	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs539111750	chr8:48644784-48644785	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs116595001	chr8:48644885-48644886	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs139500219	chr8:48644889-48644890	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs144229615	chr8:48644892-48644893	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs554667390	chr8:48644903-48644904	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs370370181	chr8:48644908-48644909	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs567426129	chr8:48644964-48644965	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs528290946	chr8:48644969-48644970	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs183870147	chr8:48645040-48645041	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs189318042	chr8:48645053-48645054	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs571654191	chr8:48645166-48645167	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs539033306	chr8:48645167-48645168	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs112535120	chr8:48645188-48645189	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs192252310	chr8:48645206-48645207	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs547957996	chr8:48645251-48645252	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs146577224	chr8:48645277-48645278	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs114149775	chr8:48645320-48645321	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs536976927	chr8:48645366-48645367	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs554987955	chr8:48645368-48645369	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs573354624	chr8:48645466-48645467	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs540470010	chr8:48645501-48645502	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs76318439	chr8:48645524-48645525	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs141301326	chr8:48645532-48645533	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs577589372	chr8:48645541-48645542	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs566069091	chr8:48645552-48645553	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs370982046	chr8:48645564-48645565	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs185800639	chr8:48645580-48645581	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs150235353	chr8:48645613-48645614	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs190379126	chr8:48645668-48645669	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs145822350	chr8:48645742-48645743	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs528242792	chr8:48645810-48645811	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs546526056	chr8:48645818-48645819	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs571705849	chr8:48645819-48645820	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs181680088	chr8:48645840-48645841	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
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
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	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
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	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	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	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
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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	17142309	CNVD
22q11 deletion syndrome	20357662	CNVD
Autism	20531469	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:906 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48597200-48647200	Weak transcription	NHEK	skin
2	chr8:48597200-48647400	Weak transcription	HMEC	breast
3	chr8:48602800-48647800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:48604400-48648400	Weak transcription	Small Intestine	intestine
5	chr8:48606800-48646400	Weak transcription	Fetal Heart	heart
6	chr8:48612000-48647400	Weak transcription	NH-A	brain
7	chr8:48613600-48647200	Weak transcription	A549	lung
8	chr8:48618000-48648800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr8:48618200-48651200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr8:48619200-48648400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:48619200-48649000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:48619600-48647600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:48624400-48647800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr8:48626200-48646000	Weak transcription	Colonic Mucosa	Colon
15	chr8:48626600-48646400	Weak transcription	Osteobl	bone
16	chr8:48626600-48646600	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr8:48626600-48648200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr8:48626800-48644400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:48627000-48646200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr8:48627000-48646800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr8:48627000-48647000	Weak transcription	Fetal Kidney	kidney
22	chr8:48627000-48647200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:48627000-48647200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr8:48632600-48647200	Weak transcription	Aorta	Aorta
25	chr8:48632800-48646800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr8:48632800-48648600	Weak transcription	Brain Germinal Matrix	brain
27	chr8:48633000-48644800	Weak transcription	Fetal Brain Male	brain
28	chr8:48633000-48646000	Weak transcription	Colon Smooth Muscle	Colon
29	chr8:48633000-48646400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr8:48633200-48647600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr8:48635000-48646600	Weak transcription	Brain Angular Gyrus	brain
32	chr8:48635200-48646800	Weak transcription	Brain Substantia Nigra	brain
33	chr8:48635800-48646600	Weak transcription	Brain Hippocampus Middle	brain
34	chr8:48635800-48646800	Weak transcription	Brain Anterior Caudate	brain
35	chr8:48635800-48647400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:48636800-48645200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr8:48636800-48645200	Strong transcription	Spleen	Spleen
38	chr8:48637000-48646400	Weak transcription	Stomach Mucosa	stomach
39	chr8:48637200-48644400	Weak transcription	Fetal Lung	lung
40	chr8:48637200-48644400	Weak transcription	NHLF	lung
41	chr8:48637200-48646200	Weak transcription	Left Ventricle	heart
42	chr8:48637200-48646200	Weak transcription	NHDF-Ad	bronchial
43	chr8:48637400-48646800	Weak transcription	HepG2	liver
44	chr8:48637800-48649600	Weak transcription	Dnd41	blood
45	chr8:48638200-48646200	Weak transcription	Ovary	ovary
46	chr8:48638800-48645000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr8:48639200-48646200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:48639600-48645200	Strong transcription	Primary T cells from cord blood	blood
49	chr8:48639600-48651000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr8:48640000-48646800	Weak transcription	Primary T helper cells PMA-I stimulated	--

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