Variant report

Variant	esv3428054
Chromosome Location	chr1:228134779-228136852
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr1:228135830-228135964	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr1:228134857-228135367	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr1:228134819-228134874	HepG2	liver:	n/a	n/a
4	BHLHE40	chr1:228134835-228134931	A549	lung:	n/a	n/a
5	BHLHE40	chr1:228135220-228135283	K562	blood:	n/a	n/a
6	BHLHE40	chr1:228134038-228135005	K562	blood:	n/a	n/a
7	BRCA1	chr1:228136160-228136311	Hela-S3	cervix:	n/a	n/a
8	CCNT2	chr1:228135235-228136138	K562	blood:	n/a	chr1:228136017-228136026 chr1:228136012-228136021
9	CCNT2	chr1:228134341-228134951	K562	blood:	n/a	n/a
10	CHD2	chr1:228134297-228134935	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD2	chr1:228136069-228136131	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr1:228133812-228134852	Hela-S3	cervix:	n/a	n/a
13	CHD2	chr1:228135636-228135926	Hela-S3	cervix:	n/a	n/a
14	CREB1	chr1:228135092-228135714	H1-hESC	embryonic stem cell:	n/a	n/a
15	CREB1	chr1:228135132-228135865	A549	lung:	n/a	n/a
16	CTBP2	chr1:228135569-228136528	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr1:228134760-228134910	GM12867	blood:	n/a	n/a
18	CTCF	chr1:228134840-228134990	HFF-Myc	foreskin:	n/a	n/a
19	CTCF	chr1:228134640-228134790	AG04449	skin:	n/a	n/a
20	CTCF	chr1:228134258-228134995	IMR90	lung:	n/a	chr1:228134476-228134489 chr1:228134408-228134416 chr1:228134536-228134554 chr1:228134474-228134492 chr1:228134539-228134552
21	CTCF	chr1:228134640-228134790	AoAF	blood vessel:	n/a	n/a
22	CTCF	chr1:228133609-228134987	A549	lung:	n/a	chr1:228134476-228134489 chr1:228134246-228134259 chr1:228134408-228134416 chr1:228134536-228134554 chr1:228134474-228134492 chr1:228134539-228134552
23	CTCF	chr1:228135840-228135990	AG04449	skin:	n/a	n/a
24	CTCF	chr1:228134740-228134890	HVMF	connective:	n/a	n/a
25	CTCF	chr1:228134860-228135010	SK-N-SH_RA	brain:	n/a	n/a
26	CTCF	chr1:228135743-228135936	K562	blood:	n/a	n/a
27	CTCF	chr1:228135665-228135976	K562	blood:	n/a	n/a
28	CTCF	chr1:228134900-228135050	HMEC	breast:	n/a	n/a
29	CTCF	chr1:228134700-228134850	AG10803	skin:	n/a	n/a
30	CTCF	chr1:228133956-228135060	SK-N-SH	brain:	n/a	chr1:228134476-228134489 chr1:228134246-228134259 chr1:228134408-228134416 chr1:228134536-228134554 chr1:228134474-228134492 chr1:228134539-228134552
31	CTCF	chr1:228134720-228134870	AG09319	gingival:	n/a	n/a
32	CTCF	chr1:228134760-228134910	RPTEC	kidney:	n/a	n/a
33	CTCF	chr1:228135120-228135270	BJ	skin:	n/a	n/a
34	CTCF	chr1:228134009-228134828	HCT-116	colon:	n/a	chr1:228134476-228134489 chr1:228134246-228134259 chr1:228134408-228134416 chr1:228134536-228134554 chr1:228134474-228134492 chr1:228134539-228134552
35	CTCF	chr1:228134760-228134910	GM12878	blood:	n/a	n/a
36	CTCF	chr1:228134700-228134850	AG09319	gingival:	n/a	n/a
37	CTCF	chr1:228134660-228134810	BJ	skin:	n/a	n/a
38	CTCF	chr1:228134760-228134910	GM12874	blood:	n/a	n/a
39	CTCF	chr1:228135900-228136050	BJ	skin:	n/a	n/a
40	CTCF	chr1:228134680-228134830	HEEpiC	esophagus:	n/a	n/a
41	CTCF	chr1:228134021-228134785	MCF-7	breast:	n/a	chr1:228134476-228134489 chr1:228134246-228134259 chr1:228134408-228134416 chr1:228134536-228134554 chr1:228134474-228134492 chr1:228134539-228134552
42	CTCF	chr1:228133767-228134842	HCT-116	colon:	n/a	chr1:228134476-228134489 chr1:228134246-228134259 chr1:228134408-228134416 chr1:228134536-228134554 chr1:228134474-228134492 chr1:228134539-228134552
43	CTCF	chr1:228136040-228136190	SK-N-SH_RA	brain:	n/a	n/a
44	E2F1	chr1:228135157-228136119	Hela-S3	cervix:	n/a	chr1:228135559-228135571 chr1:228136050-228136059
45	E2F4	chr1:228135712-228135721	MCF10A-Er-Src	breast:	n/a	n/a
46	E2F6	chr1:228134741-228135839	K562	blood:	n/a	chr1:228135559-228135571
47	E2F6	chr1:228134695-228134952	K562	blood:	n/a	n/a
48	E2F6	chr1:228135504-228135797	K562	blood:	n/a	chr1:228135559-228135571
49	E2F6	chr1:228135120-228135443	K562	blood:	n/a	n/a
50	E2F6	chr1:228134358-228135409	A549	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:228135123-228135173	MCF10A-Er-Src	breast:	n/a
2	chr1:228135758-228135808	AG04449	skin:	fetal
3	chr1:228134933-228134983	HCPEpiC	choroid plexus:	n/a
4	chr1:228136127-228136177	Hepatocyte	liver:	n/a
5	chr1:228134933-228134983	A549	lung:	n/a
6	chr1:228135961-228136011	ProgFib	skin:	n/a
7	chr1:228135758-228135808	GM12892	blood:	n/a
8	chr1:228136127-228136177	HIPEpiC	eye:	n/a
9	chr1:228134933-228134983	ECC-1	luminal epithelium:	n/a
10	chr1:228135059-228135109	MCF-7	breast:	n/a
11	chr1:228135758-228135808	MCF10A-Er-Src	breast:	n/a
12	chr1:228134933-228134983	SAEC	small airway:	n/a
13	chr1:228136503-228136553	A549	lung:	n/a
14	chr1:228135123-228135173	AG09309	skin:	n/a
15	chr1:228136712-228136762	NT2-D1	testis:	n/a
16	chr1:228134933-228134983	ProgFib	skin:	n/a
17	chr1:228136127-228136177	HRPEpiC	eye:	n/a
18	chr1:228134933-228134983	GM19239	blood:	n/a
19	chr1:228135961-228136011	Jurkat	blood:	n/a
20	chr1:228136712-228136762	HepG2	liver:	n/a
21	chr1:228135059-228135109	NH-A	brain:	n/a
22	chr1:228136127-228136177	Hela-S3	cervix:	n/a
23	chr1:228135758-228135808	SAEC	small airway:	n/a
24	chr1:228135961-228136011	A549	lung:	n/a
25	chr1:228136712-228136762	RPTEC	kidney:	n/a
26	chr1:228135059-228135109	AG04450	lung:	fetal
27	chr1:228136503-228136553	HepG2	liver:	n/a
28	chr1:228136127-228136177	SK-N-SH	brain:	n/a
29	chr1:228136503-228136553	AG09319	gingival:	n/a
30	chr1:228135961-228136011	HRPEpiC	eye:	n/a
31	chr1:228135123-228135173	ProgFib	skin:	n/a
32	chr1:228136503-228136553	ProgFib	skin:	n/a
33	chr1:228136256-228136306	Hela-S3	cervix:	n/a
34	chr1:228135758-228135808	NHBE	bronchial:	n/a
35	chr1:228136712-228136762	GM12891	blood:	n/a
36	chr1:228136503-228136553	GM12878	blood:	n/a
37	chr1:228135961-228136011	HUVEC	blood vessel:	n/a
38	chr1:228136256-228136306	NHDF-neo	bronchial:	n/a
39	chr1:228136256-228136306	ovcar-3	ovarian:	n/a
40	chr1:228136127-228136177	PFSK-1	brain:	n/a
41	chr1:228135059-228135109	NB4	blood:	n/a
42	chr1:228136503-228136553	Hela-S3	cervix:	n/a
43	chr1:228136256-228136306	PANC-1	pancreas:	n/a
44	chr1:228136712-228136762	HIPEpiC	eye:	n/a
45	chr1:228136127-228136177	HRE	kidney:	n/a
46	chr1:228134933-228134983	HMEC	breast:	n/a
47	chr1:228135059-228135109	HNPCEpiC	eye:	n/a
48	chr1:228136712-228136762	HCM	heart:	n/a
49	chr1:228136127-228136177	HEK293	kidney:	embryo
50	chr1:228135961-228136011	GM12891	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:228128193..228132003-chr1:228132864..228136285,5	K562	blood:
2	chr1:228129106..228132233-chr1:228133265..228135585,4	MCF-7	breast:
3	chr1:227962379..227965351-chr1:228135797..228137632,2	MCF-7	breast:
4	chr1:227668674..227670909-chr1:228132996..228135625,2	K562	blood:
5	chr1:227669109..227669887-chr1:228134058..228134849,3	K562	blood:
6	chr1:227948959..227950844-chr1:228133923..228134938,14	MCF-7	breast:
7	chr1:227949835..227950876-chr1:228133993..228134931,7	K562	blood:
8	chr1:227917409..227918706-chr1:228134035..228134836,3	MCF-7	breast:
9	chr1:228136513..228138396-chr1:228142970..228145012,2	K562	blood:
10	chr1:228089488..228090174-chr1:228134137..228134999,2	MCF-7	breast:
11	chr1:227922958..227924817-chr1:228133058..228135872,2	MCF-7	breast:
12	chr1:227668498..227670026-chr1:228133976..228134959,9	MCF-7	breast:
13	chr1:227916221..227923035-chr1:228131852..228141791,18	MCF-7	breast:

Variant related genes	Relation type
WNT9A	TF binding region
WNT9A	CpG island
ENSG00000237193	chromatin interactions
ENSG00000081692	chromatin interactions
ENSG00000264483	chromatin interactions
ENSG00000143740	chromatin interactions

Extended variants
information (count: 58 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536897136	chr1:228134887-228134888	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs556342346	chr1:228134899-228134900	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs547060407	chr1:228134916-228134917	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs568161149	chr1:228134933-228134934	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs537470469	chr1:228134964-228134965	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs144748024	chr1:228134977-228134978	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs117315223	chr1:228134988-228134989	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs71762594	chr1:228135007-228135008	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs373210267	chr1:228135017-228135018	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs568825147	chr1:228135102-228135103	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs539688127	chr1:228135174-228135175	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs185187010	chr1:228135189-228135190	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs115722277	chr1:228135203-228135204	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs535868104	chr1:228135236-228135237	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs554589352	chr1:228135248-228135249	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs533693825	chr1:228135311-228135312	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs555500445	chr1:228135377-228135378	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs573709285	chr1:228135382-228135383	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs188105092	chr1:228135411-228135412	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs556161682	chr1:228135447-228135448	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs575869608	chr1:228135472-228135473	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs546434966	chr1:228135554-228135555	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs564564826	chr1:228135640-228135641	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs573381153	chr1:228135656-228135657	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs113575750	chr1:228135675-228135676	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs540398308	chr1:228135676-228135677	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs113001982	chr1:228135779-228135780	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs112969926	chr1:228135849-228135850	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs112156842	chr1:228135885-228135886	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs12731492	chr1:228135894-228135895	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs112937162	chr1:228135899-228135900	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs36132080	chr1:228135974-228135975	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs61091413	chr1:228136164-228136165	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs562498954	chr1:228136165-228136166	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs188097399	chr1:228136207-228136208	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs111310854	chr1:228136228-228136229	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs192544588	chr1:228136257-228136258	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs369916231	chr1:228136263-228136264	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs540952321	chr1:228136313-228136314	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs75105603	chr1:228136317-228136318	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs185081254	chr1:228136340-228136341	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs56280452	chr1:228136365-228136366	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs376732870	chr1:228136376-228136377	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs145752603	chr1:228136404-228136405	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs556204484	chr1:228136414-228136415	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs190628853	chr1:228136459-228136460	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs181843814	chr1:228136534-228136535	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs113886126	chr1:228136541-228136542	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs534965170	chr1:228136556-228136557	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs186903166	chr1:228136570-228136571	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:435 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228133000-228134800	Bivalent Enhancer	Placenta	Placenta
2	chr1:228133000-228135000	Flanking Active TSS	HMEC	breast
3	chr1:228133600-228134800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:228133600-228134800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:228133600-228134800	Enhancers	Fetal Brain Male	brain
6	chr1:228133600-228134800	Flanking Active TSS	Placenta Amnion	Placenta Amnion
7	chr1:228133600-228135000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
8	chr1:228133600-228135400	Flanking Active TSS	Colonic Mucosa	Colon
9	chr1:228133800-228135000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
10	chr1:228133800-228135200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:228133800-228135200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:228133800-228135400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:228133800-228135400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr1:228133800-228136400	Active TSS	NHLF	lung
15	chr1:228134000-228134800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr1:228134000-228135000	Bivalent Enhancer	Osteobl	bone
17	chr1:228134000-228135400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:228134000-228136000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:228134000-228136000	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr1:228134000-228136200	Active TSS	H9 Cell Line	embryonic stem cell
21	chr1:228134000-228136400	Active TSS	Psoas Muscle	Psoas
22	chr1:228134200-228134800	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr1:228134200-228134800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:228134200-228134800	Active TSS	Fetal Intestine Large	intestine
25	chr1:228134200-228134800	Transcr. at gene 5' and 3'	Right Atrium	heart
26	chr1:228134200-228135000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:228134200-228135000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
28	chr1:228134200-228135000	Flanking Active TSS	Right Ventricle	heart
29	chr1:228134200-228135000	Bivalent/Poised TSS	Thymus	Thymus
30	chr1:228134200-228135200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
31	chr1:228134200-228135200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr1:228134200-228135400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr1:228134200-228136200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:228134200-228136200	Enhancers	Liver	Liver
35	chr1:228134200-228136200	Active TSS	HSMM	muscle
36	chr1:228134200-228136400	Active TSS	Ovary	ovary
37	chr1:228134200-228136400	Active TSS	HSMMtube	muscle
38	chr1:228134200-228136800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
39	chr1:228134400-228134800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:228134400-228134800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
41	chr1:228134400-228134800	Active TSS	Primary T cells from cord blood	blood
42	chr1:228134400-228134800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr1:228134400-228134800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr1:228134400-228134800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:228134400-228134800	Active TSS	Brain Cingulate Gyrus	brain
46	chr1:228134400-228134800	Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr1:228134400-228134800	Bivalent/Poised TSS	HepG2	liver
48	chr1:228134400-228134800	Active TSS	K562	blood
49	chr1:228134400-228134800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
50	chr1:228134400-228134800	Active TSS	NH-A	brain

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