Variant report

Variant	nsv911647
Chromosome Location	chr19:36629631-36651499
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1098)
CpG islands
(count:1345)
Chromatin interactive
region (count:41)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:1098 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:36630728-36631120	K562	blood:	n/a	n/a
2	ARID3A	chr19:36630542-36631057	HepG2	liver:	n/a	n/a
3	ATF2	chr19:36630687-36631128	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr19:36630483-36631209	GM12878	blood:	n/a	n/a
5	ATF3	chr19:36631989-36632696	A549	lung:	n/a	n/a
6	ATF3	chr19:36630658-36631045	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF3	chr19:36630710-36631110	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF3	chr19:36630130-36631481	A549	lung:	n/a	n/a
9	ATF3	chr19:36630769-36631116	K562	blood:	n/a	n/a
10	ATF3	chr19:36630272-36631259	A549	lung:	n/a	n/a
11	ATF3	chr19:36630699-36631185	K562	blood:	n/a	n/a
12	BACH1	chr19:36630353-36631126	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr19:36632323-36632586	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr19:36631334-36631848	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr19:36630298-36630890	K562	blood:	n/a	n/a
16	BATF	chr19:36630412-36631143	GM12878	blood:	n/a	n/a
17	BATF	chr19:36647521-36647747	GM12878	blood:	n/a	n/a
18	BCL3	chr19:36630064-36632006	A549	lung:	n/a	chr19:36631344-36631353 chr19:36630417-36630426
19	BCL3	chr19:36630076-36631337	A549	lung:	n/a	chr19:36630417-36630426
20	BCL3	chr19:36632007-36632680	A549	lung:	n/a	n/a
21	BCLAF1	chr19:36630357-36631194	GM12878	blood:	n/a	chr19:36630417-36630426
22	BHLHE40	chr19:36630285-36631266	K562	blood:	n/a	chr19:36630488-36630504 chr19:36630979-36630995 chr19:36631004-36631020
23	BHLHE40	chr19:36630287-36631156	GM12878	blood:	n/a	chr19:36630488-36630504 chr19:36630979-36630995 chr19:36631004-36631020
24	BHLHE40	chr19:36630418-36631103	HepG2	liver:	n/a	chr19:36630488-36630504 chr19:36630979-36630995 chr19:36631004-36631020
25	BHLHE40	chr19:36631732-36631828	GM12878	blood:	n/a	n/a
26	BHLHE40	chr19:36630416-36631031	A549	lung:	n/a	chr19:36630488-36630504 chr19:36630979-36630995 chr19:36631004-36631020
27	BRCA1	chr19:36630650-36631022	H1-hESC	embryonic stem cell:	n/a	n/a
28	BRCA1	chr19:36630459-36631550	Hela-S3	cervix:	n/a	n/a
29	BRCA1	chr19:36630549-36631080	GM12878	blood:	n/a	n/a
30	BRCA1	chr19:36630629-36630956	HepG2	liver:	n/a	n/a
31	CBX3	chr19:36630722-36631013	K562	blood:	n/a	n/a
32	CBX3	chr19:36630127-36631153	K562	blood:	n/a	n/a
33	CCNT2	chr19:36630347-36631234	K562	blood:	n/a	n/a
34	CEBPB	chr19:36645017-36645241	IMR90	lung:	n/a	n/a
35	CEBPB	chr19:36630787-36631195	H1-hESC	embryonic stem cell:	n/a	n/a
36	CEBPB	chr19:36630330-36631652	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr19:36645637-36645663	A549	lung:	n/a	n/a
38	CEBPB	chr19:36630085-36631426	A549	lung:	n/a	n/a
39	CEBPB	chr19:36630816-36631001	HepG2	liver:	n/a	n/a
40	CEBPB	chr19:36630481-36630525	K562	blood:	n/a	n/a
41	CEBPD	chr19:36630476-36631243	HepG2	liver:	n/a	n/a
42	CEBPD	chr19:36630720-36631166	K562	blood:	n/a	n/a
43	CHD1	chr19:36630264-36631277	GM12878	blood:	n/a	n/a
44	CHD1	chr19:36631499-36631890	GM12878	blood:	n/a	n/a
45	CHD1	chr19:36631110-36631120	H1-hESC	embryonic stem cell:	n/a	n/a
46	CHD2	chr19:36630466-36631082	GM12878	blood:	n/a	n/a
47	CHD2	chr19:36632082-36632385	Hela-S3	cervix:	n/a	n/a
48	CHD2	chr19:36630389-36631195	Hela-S3	cervix:	n/a	n/a
49	CHD2	chr19:36631423-36631854	Hela-S3	cervix:	n/a	n/a
50	CHD2	chr19:36632478-36632491	GM12878	blood:	n/a	n/a

(count:1345 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:36643771-36643821	SAEC	small airway:	n/a
2	chr19:36631074-36631124	NB4	blood:	n/a
3	chr19:36643070-36643120	A549	lung:	n/a
4	chr19:36643771-36643821	SAEC	small airway:	n/a
5	chr19:36631074-36631124	NB4	blood:	n/a
6	chr19:36643070-36643120	A549	lung:	n/a
7	chr19:36633207-36633257	GM12892	blood:	n/a
8	chr19:36630557-36630607	SK-N-SH_RA	brain:	n/a
9	chr19:36630902-36630952	PFSK-1	brain:	n/a
10	chr19:36633213-36633263	K562	blood:	n/a
11	chr19:36631318-36631368	HRPEpiC	eye:	n/a
12	chr19:36643771-36643821	GM12878	blood:	n/a
13	chr19:36643070-36643120	PANC-1	pancreas:	n/a
14	chr19:36631058-36631108	HCT-116	colon:	n/a
15	chr19:36640758-36640808	SK-N-MC	brain:	n/a
16	chr19:36633213-36633263	NB4	blood:	n/a
17	chr19:36638843-36638893	HL-60	blood:	n/a
18	chr19:36631074-36631124	HUVEC	blood vessel:	n/a
19	chr19:36630902-36630952	PANC-1	pancreas:	n/a
20	chr19:36631318-36631368	HRE	kidney:	n/a
21	chr19:36630882-36630932	SAEC	small airway:	n/a
22	chr19:36629608-36629658	Hepatocyte	liver:	n/a
23	chr19:36630914-36630964	ProgFib	skin:	n/a
24	chr19:36640758-36640808	HIPEpiC	eye:	n/a
25	chr19:36633213-36633263	HepG2	liver:	n/a
26	chr19:36630557-36630607	AG09309	skin:	n/a
27	chr19:36631141-36631191	NHBE	bronchial:	n/a
28	chr19:36630557-36630607	ProgFib	skin:	n/a
29	chr19:36631141-36631191	CMK	blood:	n/a
30	chr19:36631074-36631124	PrEC	prostate:	n/a
31	chr19:36643572-36643622	A549	lung:	n/a
32	chr19:36630627-36630677	HEK293	kidney:	embryo
33	chr19:36643771-36643821	SK-N-SH	brain:	n/a
34	chr19:36629608-36629658	SKMC	muscle:	n/a
35	chr19:36630627-36630677	SAEC	small airway:	n/a
36	chr19:36630902-36630952	GM19239	blood:	n/a
37	chr19:36631058-36631108	HUVEC	blood vessel:	n/a
38	chr19:36643572-36643622	GM12891	blood:	n/a
39	chr19:36633207-36633257	SKMC	muscle:	n/a
40	chr19:36638843-36638893	AG10803	skin:	n/a
41	chr19:36644751-36644801	MCF-7	breast:	n/a
42	chr19:36638843-36638893	MCF-7	breast:	n/a
43	chr19:36633207-36633257	HL-60	blood:	n/a
44	chr19:36631074-36631124	ECC-1	luminal epithelium:	n/a
45	chr19:36633207-36633257	Hela-S3	cervix:	n/a
46	chr19:36629608-36629658	HL-60	blood:	n/a
47	chr19:36642720-36642770	MCF10A-Er-Src	breast:	n/a
48	chr19:36630557-36630607	H1-hESC	embryonic stem cell:	embryo
49	chr19:36630914-36630964	CMK	blood:	n/a
50	chr19:36633207-36633257	HCPEpiC	choroid plexus:	n/a

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:36629466..36631434-chr19:38753724..38756328,2	MCF-7	breast:
2	chr19:36605008..36606623-chr19:36627761..36629746,2	K562	blood:
3	chr19:36629161..36631921-chr19:37341375..37343285,2	MCF-7	breast:
4	chr19:36630278..36632151-chr19:36704046..36706551,3	MCF-7	breast:
5	chr19:36630738..36632299-chr19:36705733..36707758,2	MCF-7	breast:
6	chr19:36629887..36633258-chr19:36704150..36708473,10	K562	blood:
7	chr1:228400809..228401396-chr19:36631414..36632120,2	Hela-S3	cervix:
8	chr19:36630466..36632159-chr19:36704253..36707369,3	K562	blood:
9	chr19:36618864..36621054-chr19:36633673..36635614,2	MCF-7	breast:
10	chr19:36636671..36639034-chr19:36695235..36696837,2	K562	blood:
11	chr19:36628146..36630638-chr19:37017222..37019646,2	K562	blood:
12	chr19:36604026..36607708-chr19:36630473..36633466,10	K562	blood:
13	chr19:36630678..36632307-chr19:36642468..36644265,2	K562	blood:
14	chr19:36635447..36638773-chr19:36641889..36645478,3	K562	blood:
15	chr19:36604594..36608993-chr19:36628830..36633466,13	K562	blood:
16	chr17:16283924..16284578-chr19:36631010..36631547,2	Hela-S3	cervix:
17	chr19:36630769..36631425-chr3:57678429..57679174,2	Hela-S3	cervix:
18	chr19:36643816..36646322-chr19:36651862..36654604,2	K562	blood:
19	chr19:36630678..36632307-chr19:36642468..36644265,2	K562	blood:
20	chr19:36544655..36547364-chr19:36630776..36632492,2	K562	blood:
21	chr19:36543201..36546500-chr19:36630161..36633757,3	MCF-7	breast:
22	chr19:36601521..36604291-chr19:36630338..36633807,8	MCF-7	breast:
23	chr17:80416314..80417083-chr19:36630660..36631409,2	Hela-S3	cervix:
24	chr19:36543278..36547003-chr19:36629856..36633093,3	MCF-7	breast:
25	chr17:40828184..40828848-chr19:36631342..36632165,2	Hela-S3	cervix:
26	chr19:36636004..36639367-chr19:36650877..36653820,3	K562	blood:
27	chr10:94352936..94353453-chr19:36630960..36631661,2	Hela-S3	cervix:
28	chr13:38923439..38924342-chr19:36630421..36631091,2	Hela-S3	cervix:
29	chr19:36630602..36632414-chr19:38875371..38878496,3	MCF-7	breast:
30	chr19:36604314..36608037-chr19:36629557..36633745,12	MCF-7	breast:
31	chr10:120840114..120840715-chr19:36630815..36631334,2	Hela-S3	cervix:
32	chr19:36635772..36637555-chr19:36705789..36707718,2	K562	blood:
33	chr19:36629391..36631341-chr19:38851035..38853209,2	MCF-7	breast:
34	chr19:36604617..36608522-chr19:36628102..36632329,9	MCF-7	breast:
35	chr16:29936944..29937902-chr19:36630893..36631603,2	Hela-S3	cervix:
36	chr16:9185392..9186090-chr19:36630875..36631576,2	Hela-S3	cervix:
37	chr12:96793870..96794769-chr19:36631076..36631914,2	Hela-S3	cervix:
38	chr19:36635447..36638773-chr19:36641889..36645478,3	K562	blood:
39	chr19:36391220..36392948-chr19:36631072..36632593,2	MCF-7	breast:
40	chr19:36630738..36632588-chr19:36651026..36652754,2	MCF-7	breast:
41	chr19:36630683..36631317-chr22:43010387..43011247,2	Hela-S3	cervix:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COX7A1-2	chr19:36638941-36639250	ENSG00000270760.1
2	lnc-COX7A1-2	chr19:36634983-36635051	ENSG00000270760.1
3	lnc-CAPNS1-2	chr19:36646018-36647113	NONHSAT065965
4	lnc-CAPNS1-1	chr19:36644712-36645101	NONHSAT065964

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	CAPNS1	hsa-miR-124-3p	chr19:36641181-36641187
2	CAPNS1	hsa-miR-124-3p	chr19:36641168-36641188

Variant related genes	Relation type
ENSG00000270760	TF binding region
CAPNS1	TF binding region
COX7A1	TF binding region
ENSG00000270760	CpG island
CAPNS1	CpG island
COX7A1	CpG island
ENSG00000105261	chromatin interactions
ENSG00000167642	chromatin interactions
ENSG00000138160	chromatin interactions
ENSG00000141562	chromatin interactions
ENSG00000197863	chromatin interactions
ENSG00000068137	chromatin interactions
ENSG00000196357	chromatin interactions
ENSG00000182831	chromatin interactions
ENSG00000162913	chromatin interactions
ENSG00000105258	chromatin interactions
ENSG00000126247	chromatin interactions
ENSG00000107581	chromatin interactions
ENSG00000270760	chromatin interactions
ENSG00000170315	chromatin interactions
ENSG00000100227	chromatin interactions
ENSG00000254004	chromatin interactions
ENSG00000174943	chromatin interactions
ENSG00000228629	chromatin interactions
ENSG00000161281	chromatin interactions
ENSG00000075702	chromatin interactions
ENSG00000241933	chromatin interactions
ENSG00000251247	chromatin interactions
ENSG00000120686	chromatin interactions
ENSG00000267090	chromatin interactions
ENSG00000059758	chromatin interactions
ENSG00000161277	chromatin interactions
ENSG00000105254	chromatin interactions
ENSG00000174839	chromatin interactions
ENSG00000167604	chromatin interactions
ENSG00000265458	chromatin interactions
ENSG00000167635	chromatin interactions
ENSG00000266963	chromatin interactions

Extended variants
information (count: 1006 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1006 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8106210	chr19:36629631-36629632	Weak transcription Active TSS Enhancers	CpG island Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371277710	chr19:36629636-36629637	Weak transcription Active TSS Enhancers	CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs551087023	chr19:36629708-36629709	Weak transcription Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs569423207	chr19:36629742-36629743	Weak transcription Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs17881584	chr19:36629749-36629750	Weak transcription Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs117900212	chr19:36629750-36629751	Weak transcription Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs17879573	chr19:36629751-36629752	Weak transcription Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs567753018	chr19:36629784-36629785	Weak transcription Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs535261005	chr19:36629857-36629858	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs143369222	chr19:36629885-36629886	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs553860471	chr19:36629938-36629939	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
12	rs558032517	chr19:36629952-36629953	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
13	rs374478936	chr19:36630056-36630057	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
14	rs573403789	chr19:36630061-36630062	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
15	rs199973499	chr19:36630071-36630072	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
16	rs529284808	chr19:36630072-36630073	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
17	rs35133333	chr19:36630073-36630074	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
18	rs397805504	chr19:36630076-36630077	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
19	rs555674124	chr19:36630115-36630116	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
20	rs149654680	chr19:36630122-36630123	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
21	rs114474962	chr19:36630145-36630146	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
22	rs28537728	chr19:36630167-36630168	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
23	rs562947518	chr19:36630214-36630215	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
24	rs539410655	chr19:36630238-36630239	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
25	rs575211480	chr19:36630341-36630342	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
26	rs545898440	chr19:36630345-36630346	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
27	rs564099782	chr19:36630357-36630358	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
28	rs117814223	chr19:36630372-36630373	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
29	rs576077642	chr19:36630396-36630397	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
30	rs182875802	chr19:36630422-36630423	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
31	rs17884571	chr19:36630479-36630480	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
32	rs150221723	chr19:36630542-36630543	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
33	rs17885161	chr19:36630545-36630546	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
34	rs550951773	chr19:36630550-36630551	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
35	rs569288534	chr19:36630594-36630595	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
36	rs370872188	chr19:36630612-36630613	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
37	rs375604386	chr19:36630613-36630614	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
38	rs368090383	chr19:36630614-36630615	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
39	rs370504144	chr19:36630615-36630616	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
40	rs17882263	chr19:36630689-36630690	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
41	rs551877237	chr19:36630696-36630697	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
42	rs566936320	chr19:36630717-36630718	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
43	rs144454264	chr19:36630721-36630722	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
44	rs545042060	chr19:36630736-36630737	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
45	rs371056636	chr19:36630785-36630786	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
46	rs112180123	chr19:36630786-36630787	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
47	rs375608871	chr19:36630788-36630789	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
48	rs538158790	chr19:36630801-36630802	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
49	rs17884680	chr19:36630803-36630804	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
50	rs191836970	chr19:36630833-36630834	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Ovarian cancer	21397856	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Ovarian cancer	20844748	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Neurodevelopmental disorder	22521361	CNVD
Endometrial cancer	23636398	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Gastric cancer	21811585	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:1313 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36619600-36630200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr19:36619800-36630000	Weak transcription	Fetal Thymus	thymus
3	chr19:36619800-36630200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr19:36622600-36629800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr19:36623600-36630200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr19:36623600-36630200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr19:36623800-36630400	Weak transcription	Lung	lung
8	chr19:36624000-36630200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr19:36624200-36630200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr19:36624600-36630000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr19:36626600-36630200	Weak transcription	Right Ventricle	heart
12	chr19:36626600-36630400	Weak transcription	Esophagus	oesophagus
13	chr19:36626600-36630400	Weak transcription	Gastric	stomach
14	chr19:36628000-36630000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr19:36628000-36630000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr19:36628000-36630000	Enhancers	HMEC	breast
17	chr19:36628000-36630200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr19:36628000-36630200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr19:36628000-36630200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr19:36628000-36630200	Weak transcription	Left Ventricle	heart
21	chr19:36628000-36630400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr19:36628200-36630000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr19:36628200-36630200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr19:36628200-36630200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr19:36628200-36630200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr19:36628200-36630200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr19:36628200-36630200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr19:36628200-36630200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr19:36628200-36630200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr19:36628200-36630200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr19:36628200-36630200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr19:36628200-36630200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr19:36628200-36630200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr19:36628200-36630200	Weak transcription	Adipose Nuclei	Adipose
35	chr19:36628200-36630200	Weak transcription	Liver	Liver
36	chr19:36628200-36630200	Weak transcription	Brain Hippocampus Middle	brain
37	chr19:36628200-36630200	Weak transcription	Colonic Mucosa	Colon
38	chr19:36628200-36630200	Weak transcription	Colon Smooth Muscle	Colon
39	chr19:36628200-36630200	Weak transcription	Fetal Intestine Large	intestine
40	chr19:36628200-36630200	Weak transcription	Placenta	Placenta
41	chr19:36628200-36630200	Weak transcription	Pancreas	Pancrea
42	chr19:36628200-36630200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr19:36628200-36630200	Weak transcription	Psoas Muscle	Psoas
44	chr19:36628200-36630200	Weak transcription	Rectal Smooth Muscle	rectum
45	chr19:36628200-36630200	Weak transcription	Right Atrium	heart
46	chr19:36628200-36630200	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr19:36628200-36630200	Enhancers	Hela-S3	cervix
48	chr19:36628200-36630200	Weak transcription	HSMM	muscle
49	chr19:36628200-36630200	Weak transcription	HSMMtube	muscle
50	chr19:36628200-36630200	Weak transcription	K562	blood

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