Variant report

Variant	esv3374901
Chromosome Location	chr2:183901532-183904080
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:679)
CpG islands
(count:795)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:679 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:183903158-183903336	K562	blood:	n/a	n/a
2	ARID3A	chr2:183903184-183903493	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:183900143-183902122	K562	blood:	n/a	n/a
4	ARID3A	chr2:183903550-183903728	K562	blood:	n/a	n/a
5	ATF3	chr2:183903132-183903451	GM12878	blood:	n/a	n/a
6	ATF3	chr2:183903074-183903419	HepG2	liver:	n/a	n/a
7	ATF3	chr2:183903138-183903332	GM12878	blood:	n/a	n/a
8	ATF3	chr2:183903062-183903427	K562	blood:	n/a	n/a
9	ATF3	chr2:183903108-183903452	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr2:183903201-183903701	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr2:183903367-183903489	K562	blood:	n/a	n/a
12	BCLAF1	chr2:183902240-183903463	K562	blood:	n/a	chr2:183902471-183902484 chr2:183902995-183903004 chr2:183902399-183902408 chr2:183903301-183903310 chr2:183902422-183902430 chr2:183903194-183903207
13	BHLHE40	chr2:183902619-183903533	HepG2	liver:	n/a	chr2:183903270-183903286 chr2:183903203-183903219 chr2:183902622-183902638
14	BHLHE40	chr2:183902764-183903654	GM12878	blood:	n/a	chr2:183903270-183903286 chr2:183903203-183903219
15	BHLHE40	chr2:183901667-183904039	K562	blood:	n/a	chr2:183902423-183902439 chr2:183903270-183903286 chr2:183902476-183902492 chr2:183903203-183903219 chr2:183902622-183902638
16	BRCA1	chr2:183903224-183903700	HepG2	liver:	n/a	n/a
17	BRCA1	chr2:183902734-183902807	HepG2	liver:	n/a	n/a
18	CBX3	chr2:183903035-183904088	K562	blood:	n/a	n/a
19	CBX3	chr2:183903116-183903694	K562	blood:	n/a	n/a
20	CCNT2	chr2:183902105-183903800	K562	blood:	n/a	chr2:183902640-183902649 chr2:183902398-183902407
21	CEBPB	chr2:183901870-183902406	Hela-S3	cervix:	n/a	chr2:183902180-183902193
22	CEBPB	chr2:183901858-183902323	K562	blood:	n/a	chr2:183902180-183902193
23	CEBPB	chr2:183903165-183904166	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr2:183902716-183902837	H1-hESC	embryonic stem cell:	n/a	n/a
25	CEBPB	chr2:183903157-183903331	HepG2	liver:	n/a	n/a
26	CEBPB	chr2:183903222-183903419	H1-hESC	embryonic stem cell:	n/a	n/a
27	CEBPD	chr2:183902238-183903380	HepG2	liver:	n/a	n/a
28	CHD1	chr2:183903373-183903378	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD1	chr2:183902808-183902995	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD1	chr2:183901279-183902564	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr2:183902750-183903895	K562	blood:	n/a	n/a
32	CHD2	chr2:183903090-183903454	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chr2:183902100-183903785	Hela-S3	cervix:	n/a	n/a
34	CHD2	chr2:183902925-183903548	HepG2	liver:	n/a	n/a
35	CHD2	chr2:183903763-183903940	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD2	chr2:183902490-183902521	K562	blood:	n/a	n/a
37	CREB1	chr2:183902708-183903454	H1-hESC	embryonic stem cell:	n/a	n/a
38	CREB1	chr2:183902968-183903473	A549	lung:	n/a	n/a
39	CREB1	chr2:183902369-183902794	A549	lung:	n/a	n/a
40	CTCF	chr2:183903044-183903695	IMR90	lung:	n/a	chr2:183903136-183903143
41	CTCF	chr2:183903540-183903690	AG04449	skin:	n/a	n/a
42	CTCF	chr2:183903580-183903730	AG04450	lung:	n/a	n/a
43	CTCF	chr2:183903086-183903421	A549	lung:	n/a	chr2:183903136-183903143
44	CTCF	chr2:183903480-183903630	HVMF	connective:	n/a	n/a
45	CTCF	chr2:183902140-183902290	HPF	lung:	n/a	n/a
46	CTCF	chr2:183903160-183903310	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr2:183903592-183903658	GM13976	blood:	n/a	n/a
48	CTCF	chr2:183903200-183903350	AG09309	skin:	n/a	n/a
49	CTCF	chr2:183903540-183903690	HA-sp	spinal cord:	n/a	n/a
50	CTCF	chr2:183903142-183903375	GM20000	blood:	n/a	n/a

(count:795 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:183902842-183902892	HEK293	kidney:	embryo
2	chr2:183903746-183903796	BJ	skin:	n/a
3	chr2:183902842-183902892	HEK293	kidney:	embryo
4	chr2:183903746-183903796	BJ	skin:	n/a
5	chr2:183903098-183903148	MCF-7	breast:	n/a
6	chr2:183902842-183902892	HMEC	breast:	n/a
7	chr2:183903770-183903820	BJ	skin:	n/a
8	chr2:183903389-183903439	A549	lung:	n/a
9	chr2:183903746-183903796	HRPEpiC	eye:	n/a
10	chr2:183902928-183902978	SAEC	small airway:	n/a
11	chr2:183903743-183903793	HepG2	liver:	n/a
12	chr2:183903746-183903796	U87	brain:	n/a
13	chr2:183902928-183902978	NH-A	brain:	n/a
14	chr2:183903743-183903793	HEK293	kidney:	embryo
15	chr2:183902842-183902892	HL-60	blood:	n/a
16	chr2:183903477-183903527	HCM	heart:	n/a
17	chr2:183903743-183903793	IMR90	lung:	fetal
18	chr2:183903770-183903820	SK-N-SH_RA	brain:	n/a
19	chr2:183901614-183901664	BE2_C	brain:	n/a
20	chr2:183903770-183903820	T-47D	breast:	n/a
21	chr2:183901614-183901664	PrEC	prostate:	n/a
22	chr2:183902928-183902978	BE2_C	brain:	n/a
23	chr2:183903477-183903527	AG10803	skin:	n/a
24	chr2:183902764-183902814	RPTEC	kidney:	n/a
25	chr2:183903389-183903439	ovcar-3	ovarian:	n/a
26	chr2:183903746-183903796	IMR90	lung:	fetal
27	chr2:183903770-183903820	PFSK-1	brain:	n/a
28	chr2:183903389-183903439	HEK293	kidney:	embryo
29	chr2:183903761-183903811	SKMC	muscle:	n/a
30	chr2:183903389-183903439	RPTEC	kidney:	n/a
31	chr2:183902928-183902978	HepG2	liver:	n/a
32	chr2:183902764-183902814	AoSMC	blood vessel:	n/a
33	chr2:183903389-183903439	GM12878	blood:	n/a
34	chr2:183903746-183903796	AG09319	gingival:	n/a
35	chr2:183903746-183903796	HRE	kidney:	n/a
36	chr2:183902842-183902892	Caco-2	colon:	n/a
37	chr2:183901614-183901664	K562	blood:	n/a
38	chr2:183903743-183903793	HMEC	breast:	n/a
39	chr2:183902764-183902814	AG09319	gingival:	n/a
40	chr2:183902842-183902892	HRCEpiC	kidney:	n/a
41	chr2:183903389-183903439	HCPEpiC	choroid plexus:	n/a
42	chr2:183902928-183902978	GM06990	blood:	n/a
43	chr2:183903477-183903527	HCPEpiC	choroid plexus:	n/a
44	chr2:183903098-183903148	AG04450	lung:	fetal
45	chr2:183902764-183902814	NHBE	bronchial:	n/a
46	chr2:183902842-183902892	HRPEpiC	eye:	n/a
47	chr2:183903746-183903796	GM12892	blood:	n/a
48	chr2:183903746-183903796	AoSMC	blood vessel:	n/a
49	chr2:183903412-183903462	AG10803	skin:	n/a
50	chr2:183903477-183903527	A549	lung:	n/a

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:183895298..183904606-chr2:183986062..183992067,16	K562	blood:
2	chr2:183902000..183906390-chr2:183941845..183945087,6	MCF-7	breast:
3	chr2:183902933..183903582-chr6:27782215..27782898,2	Hela-S3	cervix:
4	chr2:183902160..183905711-chr2:183988105..183989833,3	MCF-7	breast:
5	chr2:183580425..183582799-chr2:183903051..183904778,2	MCF-7	breast:
6	chr2:183805862..183807763-chr2:183903023..183904588,2	K562	blood:
7	chr2:183886254..183889249-chr2:183902321..183904164,2	MCF-7	breast:
8	chr2:183901739..183903655-chr2:187454012..187455892,2	MCF-7	breast:
9	chr2:183897885..183903273-chr2:183986817..183992325,13	K562	blood:
10	chr2:183902872..183905490-chr2:183940905..183944482,4	K562	blood:
11	chr2:183860715..183863358-chr2:183901045..183903186,2	K562	blood:
12	chr2:183899689..183901875-chr2:183913168..183915328,2	K562	blood:
13	chr2:183871994..183874914-chr2:183897971..183902484,5	MCF-7	breast:
14	chr2:183900414..183906188-chr2:183987961..183990917,10	MCF-7	breast:
15	chr2:183901774..183903695-chr2:183903789..183905859,2	MCF-7	breast:
16	chr2:183901834..183904723-chr4:83350350..83352615,2	K562	blood:
17	chr2:183900058..183902325-chr2:183948549..183950456,2	K562	blood:

No data

Variant related genes	Relation type
NCKAP1	TF binding region
NCKAP1	CpG island
ENSG00000138448	chromatin interactions
ENSG00000162999	chromatin interactions
ENSG00000163002	chromatin interactions
ENSG00000152795	chromatin interactions
ENSG00000182611	chromatin interactions
ENSG00000202141	chromatin interactions
ENSG00000077232	chromatin interactions
ENSG00000145293	chromatin interactions
ENSG00000061676	chromatin interactions
ENSG00000196374	chromatin interactions

Extended variants
information (count: 95 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79734073	chr2:183901533-183901534	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs143710680	chr2:183901544-183901545	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs67284217	chr2:183901547-183901548	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs537734043	chr2:183901548-183901549	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs34581087	chr2:183901560-183901561	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs79929074	chr2:183901592-183901593	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs368273532	chr2:183901599-183901600	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs553131599	chr2:183901651-183901652	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs71427869	chr2:183901677-183901678	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs116634581	chr2:183901765-183901766	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs572997517	chr2:183901782-183901783	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs570354463	chr2:183901873-183901874	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs567878161	chr2:183901884-183901885	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs374811496	chr2:183901900-183901901	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs138281110	chr2:183901926-183901927	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs372228118	chr2:183901940-183901941	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs558328266	chr2:183901948-183901949	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs371288591	chr2:183901949-183901950	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs192903124	chr2:183901996-183901997	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs574913573	chr2:183902005-183902006	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs560567934	chr2:183902044-183902045	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs535569069	chr2:183902083-183902084	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs540328251	chr2:183902084-183902085	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs79684374	chr2:183902137-183902138	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs117268075	chr2:183902184-183902185	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs1516245	chr2:183902187-183902188	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs552188475	chr2:183902194-183902195	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs575908610	chr2:183902215-183902216	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs139839648	chr2:183902218-183902219	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs532227474	chr2:183902258-183902259	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs552048122	chr2:183902284-183902285	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs11901395	chr2:183902303-183902304	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs565453750	chr2:183902327-183902328	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs531264121	chr2:183902371-183902372	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs80118472	chr2:183902373-183902374	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs576868373	chr2:183902393-183902394	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs567671431	chr2:183902397-183902398	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs75602566	chr2:183902403-183902404	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs547080430	chr2:183902598-183902599	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs375787518	chr2:183902612-183902613	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs566899274	chr2:183902625-183902626	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs2944358	chr2:183902651-183902652	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs111233403	chr2:183902656-183902657	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs184444838	chr2:183902671-183902672	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs371904687	chr2:183902680-183902681	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs537773552	chr2:183902712-183902713	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs376517315	chr2:183902715-183902716	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs140830214	chr2:183902735-183902736	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs200148905	chr2:183902743-183902744	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs371539335	chr2:183902761-183902762	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD

Chromatin state (count:373 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183846000-183902000	Weak transcription	Lung	lung
2	chr2:183878800-183902000	Weak transcription	Esophagus	oesophagus
3	chr2:183889800-183902000	Weak transcription	Gastric	stomach
4	chr2:183891400-183901800	Weak transcription	Small Intestine	intestine
5	chr2:183894600-183902000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:183894600-183902000	Weak transcription	Pancreas	Pancrea
7	chr2:183897800-183901800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:183899600-183901600	Flanking Active TSS	Osteobl	bone
9	chr2:183899600-183903800	Active TSS	Brain Angular Gyrus	brain
10	chr2:183899600-183904200	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr2:183899800-183901800	Flanking Active TSS	HUVEC	blood vessel
12	chr2:183899800-183903400	Active TSS	H1 Cell Line	embryonic stem cell
13	chr2:183899800-183903600	Active TSS	K562	blood
14	chr2:183899800-183903800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:183899800-183904000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:183900000-183901600	Flanking Active TSS	Colon Smooth Muscle	Colon
17	chr2:183900000-183901800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr2:183900000-183902200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:183900000-183903600	Active TSS	HMEC	breast
20	chr2:183900200-183901600	Enhancers	Brain Substantia Nigra	brain
21	chr2:183900200-183901800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr2:183900200-183902200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:183900200-183902400	Active TSS	Fetal Brain Male	brain
24	chr2:183900200-183902400	Active TSS	Right Atrium	heart
25	chr2:183900200-183903600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:183900200-183903600	Active TSS	Hela-S3	cervix
27	chr2:183900200-183903600	Active TSS	NHLF	lung
28	chr2:183900200-183903800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr2:183900200-183904000	Active TSS	Aorta	Aorta
30	chr2:183900200-183904000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:183900200-183904000	Active TSS	Psoas Muscle	Psoas
32	chr2:183900400-183901600	Weak transcription	Stomach Mucosa	stomach
33	chr2:183900400-183901600	Enhancers	GM12878-XiMat	blood
34	chr2:183900400-183901800	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr2:183900400-183901800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr2:183900400-183901800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr2:183900400-183902000	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr2:183900400-183902000	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr2:183900400-183902400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr2:183900400-183902400	Enhancers	Dnd41	blood
41	chr2:183900400-183903400	Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr2:183900400-183903800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:183900400-183904000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr2:183900400-183904000	Active TSS	Right Ventricle	heart
45	chr2:183900600-183901600	Enhancers	Primary B cells from cord blood	blood
46	chr2:183900600-183902000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:183900600-183902000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:183900600-183902400	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr2:183900600-183903400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:183900600-183903600	Active TSS	HUES48 Cell Line	embryonic stem cell

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