Variant report

Variant	esv3377293
Chromosome Location	chr22:30969852-30971750
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	ATF2	chr22:30970966-30971298	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr22:30971184-30971522	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr22:30970880-30971080	K562	blood:	n/a	chr22:30970977-30970988
4	CEBPB	chr22:30970892-30971066	HepG2	liver:	n/a	chr22:30970977-30970988
5	CEBPB	chr22:30970820-30971144	H1-hESC	embryonic stem cell:	n/a	chr22:30970977-30970988
6	CHD2	chr22:30970879-30970915	HepG2	liver:	n/a	n/a
7	CHD2	chr22:30969929-30970176	HepG2	liver:	n/a	n/a
8	CTBP2	chr22:30970768-30971525	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr22:30971114-30971275	H1-hESC	embryonic stem cell:	n/a	chr22:30971189-30971202 chr22:30971186-30971204 chr22:30971189-30971198 chr22:30971191-30971201
10	CTCF	chr22:30971020-30971170	GM12873	blood:	n/a	n/a
11	CTCF	chr22:30971060-30971210	SAEC	small airway:	n/a	chr22:30971189-30971202 chr22:30971186-30971204 chr22:30971189-30971198 chr22:30971191-30971201
12	CTCF	chr22:30971151-30971238	Hela-S3	cervix:	n/a	chr22:30971189-30971202 chr22:30971186-30971204 chr22:30971189-30971198 chr22:30971191-30971201
13	CTCF	chr22:30971080-30971230	HPF	lung:	n/a	chr22:30971189-30971202 chr22:30971186-30971204 chr22:30971189-30971198 chr22:30971191-30971201
14	CTCF	chr22:30971184-30971221	Kidney_OC	kidney:	n/a	chr22:30971189-30971202 chr22:30971186-30971204 chr22:30971189-30971198 chr22:30971191-30971201
15	CTCF	chr22:30971100-30971250	WERI-Rb-1	eye:	n/a	chr22:30971189-30971202 chr22:30971186-30971204 chr22:30971189-30971198 chr22:30971191-30971201
16	CTCF	chr22:30971120-30971270	SK-N-SH_RA	brain:	n/a	chr22:30971189-30971202 chr22:30971186-30971204 chr22:30971189-30971198 chr22:30971191-30971201
17	CTCF	chr22:30971120-30971270	MCF-7	breast:	n/a	chr22:30971189-30971202 chr22:30971186-30971204 chr22:30971189-30971198 chr22:30971191-30971201
18	CTCF	chr22:30971100-30971250	HMF	breast:	n/a	chr22:30971189-30971202 chr22:30971186-30971204 chr22:30971189-30971198 chr22:30971191-30971201
19	CTCF	chr22:30971140-30971290	HCT-116	colon:	n/a	chr22:30971189-30971202 chr22:30971186-30971204 chr22:30971189-30971198 chr22:30971191-30971201
20	CTCF	chr22:30971000-30971150	HPF	lung:	n/a	n/a
21	CTCF	chr22:30971080-30971230	AG04449	skin:	n/a	chr22:30971189-30971202 chr22:30971186-30971204 chr22:30971189-30971198 chr22:30971191-30971201
22	CTCF	chr22:30971140-30971290	SK-N-SH_RA	brain:	n/a	chr22:30971189-30971202 chr22:30971186-30971204 chr22:30971189-30971198 chr22:30971191-30971201
23	CTCF	chr22:30971060-30971210	HepG2	liver:	n/a	chr22:30971189-30971202 chr22:30971186-30971204 chr22:30971189-30971198 chr22:30971191-30971201
24	CTCF	chr22:30971080-30971230	BE2_C	brain:	n/a	chr22:30971189-30971202 chr22:30971186-30971204 chr22:30971189-30971198 chr22:30971191-30971201
25	CTCF	chr22:30971060-30971210	HRPEpiC	eye:	n/a	chr22:30971189-30971202 chr22:30971186-30971204 chr22:30971189-30971198 chr22:30971191-30971201
26	CTCF	chr22:30971080-30971230	GM12865	blood:	n/a	chr22:30971189-30971202 chr22:30971186-30971204 chr22:30971189-30971198 chr22:30971191-30971201
27	CTCF	chr22:30971020-30971170	HA-sp	spinal cord:	n/a	n/a
28	CTCF	chr22:30970360-30970406	Kidney_OC	kidney:	n/a	n/a
29	CTCF	chr22:30971080-30971230	Caco-2	colon:	n/a	chr22:30971189-30971202 chr22:30971186-30971204 chr22:30971189-30971198 chr22:30971191-30971201
30	CTCF	chr22:30971100-30971250	BJ	skin:	n/a	chr22:30971189-30971202 chr22:30971186-30971204 chr22:30971189-30971198 chr22:30971191-30971201
31	CTCF	chr22:30971060-30971210	AoAF	blood vessel:	n/a	chr22:30971189-30971202 chr22:30971186-30971204 chr22:30971189-30971198 chr22:30971191-30971201
32	CTCF	chr22:30971180-30971182	Fibrobl	skin:	n/a	n/a
33	CTCF	chr22:30971120-30971270	SAEC	small airway:	n/a	chr22:30971189-30971202 chr22:30971186-30971204 chr22:30971189-30971198 chr22:30971191-30971201
34	CTCF	chr22:30971100-30971250	GM12872	blood:	n/a	chr22:30971189-30971202 chr22:30971186-30971204 chr22:30971189-30971198 chr22:30971191-30971201
35	CTCF	chr22:30971140-30971290	HFF-Myc	foreskin:	n/a	chr22:30971189-30971202 chr22:30971186-30971204 chr22:30971189-30971198 chr22:30971191-30971201
36	CTCF	chr22:30971100-30971250	HEEpiC	esophagus:	n/a	chr22:30971189-30971202 chr22:30971186-30971204 chr22:30971189-30971198 chr22:30971191-30971201
37	CTCF	chr22:30971120-30971270	Caco-2	colon:	n/a	chr22:30971189-30971202 chr22:30971186-30971204 chr22:30971189-30971198 chr22:30971191-30971201
38	CTCF	chr22:30971020-30971170	HFF-Myc	foreskin:	n/a	n/a
39	CTCF	chr22:30971160-30971310	GM12872	blood:	n/a	chr22:30971189-30971202 chr22:30971186-30971204 chr22:30971189-30971198 chr22:30971191-30971201
40	CTCF	chr22:30971020-30971290	NHLF	lung:	n/a	chr22:30971189-30971202 chr22:30971186-30971204 chr22:30971189-30971198 chr22:30971191-30971201
41	CTCF	chr22:30971167-30971228	A549	lung:	n/a	chr22:30971189-30971202 chr22:30971186-30971204 chr22:30971189-30971198 chr22:30971191-30971201
42	CTCF	chr22:30971080-30971230	HCFaa	heart:	n/a	chr22:30971189-30971202 chr22:30971186-30971204 chr22:30971189-30971198 chr22:30971191-30971201
43	CTCF	chr22:30971169-30971220	Pancreas_OC	pancreas:	n/a	chr22:30971189-30971202 chr22:30971186-30971204 chr22:30971189-30971198 chr22:30971191-30971201
44	CTCF	chr22:30971100-30971250	HBMEC	blood vessel:	n/a	chr22:30971189-30971202 chr22:30971186-30971204 chr22:30971189-30971198 chr22:30971191-30971201
45	CTCF	chr22:30971140-30971410	AG09309	skin:	n/a	chr22:30971189-30971202 chr22:30971186-30971204 chr22:30971189-30971198 chr22:30971191-30971201
46	CTCF	chr22:30971100-30971250	HepG2	liver:	n/a	chr22:30971189-30971202 chr22:30971186-30971204 chr22:30971189-30971198 chr22:30971191-30971201
47	CTCF	chr22:30971123-30971230	MCF-7	breast:	n/a	chr22:30971189-30971202 chr22:30971186-30971204 chr22:30971189-30971198 chr22:30971191-30971201
48	CTCF	chr22:30971340-30971490	HCM	heart:	n/a	n/a
49	CTCF	chr22:30971060-30971210	GM12864	blood:	n/a	chr22:30971189-30971202 chr22:30971186-30971204 chr22:30971189-30971198 chr22:30971191-30971201
50	CTCF	chr22:30971120-30971270	A549	lung:	n/a	chr22:30971189-30971202 chr22:30971186-30971204 chr22:30971189-30971198 chr22:30971191-30971201

No.	Distal block	Cell Line	Cell type
1	chr22:30968228..30973884-chr22:30985019..30988219,5	MCF-7	breast:
2	chr22:30970968..30972609-chr22:30985302..30987086,2	K562	blood:
3	chr22:30964568..30966833-chr22:30970828..30972723,3	MCF-7	breast:
4	chr22:30964660..30967632-chr22:30970789..30972723,2	MCF-7	breast:
5	chr22:30968308..30971950-chr22:30982173..30985267,5	K562	blood:
6	chr22:30969461..30973158-chr22:30985013..30988022,5	MCF-7	breast:

Variant related genes	Relation type
GAL3ST1	TF binding region
ENSG00000100029	chromatin interactions

Extended variants
information (count: 67 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2517987	chr22:30969856-30969857	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs565451785	chr22:30969860-30969861	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs531146544	chr22:30969955-30969956	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs533086564	chr22:30969982-30969983	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs540048206	chr22:30969986-30969987	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs560320754	chr22:30969995-30969996	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs529135727	chr22:30970084-30970085	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs551230705	chr22:30970098-30970099	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs568882905	chr22:30970149-30970150	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs531599746	chr22:30970159-30970160	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs74828053	chr22:30970166-30970167	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs370454788	chr22:30970173-30970174	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs113757100	chr22:30970237-30970238	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs534349328	chr22:30970255-30970256	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs554054041	chr22:30970262-30970263	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs567885680	chr22:30970272-30970273	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs536914197	chr22:30970291-30970292	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs112593357	chr22:30970299-30970300	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs192907396	chr22:30970321-30970322	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs556920428	chr22:30970341-30970342	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs575268441	chr22:30970348-30970349	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs530279902	chr22:30970350-30970351	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs183103395	chr22:30970351-30970352	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs565685255	chr22:30970403-30970404	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs567334113	chr22:30970408-30970409	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs557778375	chr22:30970430-30970431	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs375140351	chr22:30970514-30970515	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs577640441	chr22:30970673-30970674	Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs42940	chr22:30970697-30970698	Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs560055437	chr22:30970796-30970797	Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs529073965	chr22:30970799-30970800	Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs542465377	chr22:30970863-30970864	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs111483223	chr22:30970928-30970929	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs562453849	chr22:30970934-30970935	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs531541371	chr22:30970949-30970950	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs377704782	chr22:30970967-30970968	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs42941	chr22:30970972-30970973	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs372261178	chr22:30970989-30970990	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs376752383	chr22:30970997-30970998	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs187319888	chr22:30971003-30971004	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs527770697	chr22:30971023-30971024	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs114102426	chr22:30971034-30971035	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs567732736	chr22:30971067-30971068	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs536844142	chr22:30971086-30971087	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs556834616	chr22:30971139-30971140	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs546567387	chr22:30971151-30971152	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs539366883	chr22:30971187-30971188	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs557450095	chr22:30971195-30971196	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs374104482	chr22:30971204-30971205	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs557194087	chr22:30971221-30971222	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	17322880	CNVD
Breast cancer	20409316	CNVD
Neurofibromatosis type 2	19566914	CNVD
Autism	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Autism	22495309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:394 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30964400-30970000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:30964400-30979600	Weak transcription	K562	blood
3	chr22:30965600-30971000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr22:30967000-30970200	Enhancers	Liver	Liver
5	chr22:30967000-30971600	Enhancers	Placenta	Placenta
6	chr22:30967600-30970600	Weak transcription	Right Atrium	heart
7	chr22:30967800-30970200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr22:30967800-30970200	Flanking Active TSS	HepG2	liver
9	chr22:30967800-30971200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr22:30968000-30971600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:30968200-30970000	Flanking Active TSS	A549	lung
12	chr22:30968200-30970200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr22:30968400-30970000	Flanking Active TSS	Fetal Intestine Large	intestine
14	chr22:30968400-30970200	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr22:30968400-30971200	Weak transcription	Dnd41	blood
16	chr22:30968600-30971200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr22:30968800-30970000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
18	chr22:30968800-30970200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr22:30968800-30970200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
20	chr22:30968800-30971000	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr22:30968800-30971200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr22:30968800-30971200	Weak transcription	HMEC	breast
23	chr22:30968800-30971800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr22:30969000-30970000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr22:30969000-30970000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr22:30969000-30970200	Flanking Active TSS	Fetal Intestine Small	intestine
27	chr22:30969000-30971000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr22:30969000-30971200	Enhancers	Lung	lung
29	chr22:30969000-30971400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr22:30969000-30971600	Active TSS	Rectal Smooth Muscle	rectum
31	chr22:30969200-30970000	Enhancers	Fetal Brain Female	brain
32	chr22:30969200-30970400	Enhancers	Fetal Brain Male	brain
33	chr22:30969400-30970000	Enhancers	H1 Cell Line	embryonic stem cell
34	chr22:30969400-30970000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr22:30969400-30970000	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr22:30969400-30970200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr22:30969400-30970200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr22:30969400-30970200	Flanking Active TSS	Stomach Mucosa	stomach
39	chr22:30969400-30971000	Active TSS	Brain Anterior Caudate	brain
40	chr22:30969400-30971000	Weak transcription	GM12878-XiMat	blood
41	chr22:30969400-30971000	Enhancers	HSMM	muscle
42	chr22:30969600-30970000	Enhancers	H9 Cell Line	embryonic stem cell
43	chr22:30969600-30970000	Flanking Active TSS	Colonic Mucosa	Colon
44	chr22:30969600-30970000	Active TSS	Colon Smooth Muscle	Colon
45	chr22:30969600-30970000	Bivalent/Poised TSS	Fetal Stomach	stomach
46	chr22:30969600-30970200	Enhancers	HSMMtube	muscle
47	chr22:30969600-30970400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr22:30969600-30970400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr22:30969600-30970800	Active TSS	Brain Germinal Matrix	brain
50	chr22:30969600-30971000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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