Variant report

Variant	nsv524259
Chromosome Location	chr22:29467221-29482221
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:444)
CpG islands
(count:916)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:444 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:29475308-29475640	K562	blood:	n/a	n/a
2	ATF1	chr22:29479952-29480289	K562	blood:	n/a	n/a
3	BACH1	chr22:29470226-29470418	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr22:29468477-29468734	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr22:29467253-29467359	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCL11A	chr22:29480008-29480282	GM12878	blood:	n/a	n/a
7	BHLHE40	chr22:29474809-29475393	K562	blood:	n/a	n/a
8	BHLHE40	chr22:29480129-29480432	K562	blood:	n/a	n/a
9	BHLHE40	chr22:29480148-29480368	GM12878	blood:	n/a	n/a
10	BHLHE40	chr22:29468536-29468887	K562	blood:	n/a	n/a
11	BHLHE40	chr22:29467696-29467891	GM12878	blood:	n/a	n/a
12	BHLHE40	chr22:29468567-29468814	GM12878	blood:	n/a	n/a
13	BRCA1	chr22:29470117-29470230	GM12878	blood:	n/a	n/a
14	BRCA1	chr22:29470118-29470255	HepG2	liver:	n/a	n/a
15	BRCA1	chr22:29476587-29476855	Hela-S3	cervix:	n/a	n/a
16	CBX3	chr22:29468342-29468790	K562	blood:	n/a	n/a
17	CCNT2	chr22:29468640-29469201	K562	blood:	n/a	chr22:29468759-29468768
18	CCNT2	chr22:29480162-29480362	K562	blood:	n/a	n/a
19	CEBPB	chr22:29476473-29476986	MCF-7	breast:	n/a	chr22:29476730-29476741
20	CEBPB	chr22:29479647-29479833	K562	blood:	n/a	n/a
21	CEBPB	chr22:29476688-29476845	HepG2	liver:	n/a	chr22:29476730-29476741
22	CEBPB	chr22:29476743-29476748	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPB	chr22:29479643-29479843	H1-hESC	embryonic stem cell:	n/a	n/a
24	CEBPB	chr22:29476644-29476867	A549	lung:	n/a	chr22:29476730-29476741
25	CEBPB	chr22:29476438-29476933	MCF-7	breast:	n/a	chr22:29476730-29476741
26	CEBPB	chr22:29478005-29478184	HepG2	liver:	n/a	n/a
27	CEBPB	chr22:29477598-29478259	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr22:29476514-29476941	Hela-S3	cervix:	n/a	chr22:29476730-29476741
29	CEBPB	chr22:29476600-29476881	K562	blood:	n/a	chr22:29476730-29476741
30	CEBPB	chr22:29479654-29479924	IMR90	lung:	n/a	n/a
31	CEBPB	chr22:29479670-29479909	K562	blood:	n/a	n/a
32	CEBPD	chr22:29467321-29467794	HepG2	liver:	n/a	n/a
33	CEBPD	chr22:29468766-29469244	HepG2	liver:	n/a	n/a
34	CHD1	chr22:29470288-29470451	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD1	chr22:29467449-29467711	GM12878	blood:	n/a	chr22:29467692-29467702
36	CHD2	chr22:29480162-29480233	GM12878	blood:	n/a	n/a
37	CHD2	chr22:29469861-29470313	HepG2	liver:	n/a	chr22:29469995-29470005 chr22:29470050-29470060
38	CHD2	chr22:29468784-29469016	Hela-S3	cervix:	n/a	n/a
39	CHD2	chr22:29470055-29470282	GM12878	blood:	n/a	n/a
40	CHD2	chr22:29468809-29468811	GM12878	blood:	n/a	n/a
41	CHD2	chr22:29470013-29470275	H1-hESC	embryonic stem cell:	n/a	chr22:29470050-29470060
42	CREB1	chr22:29468433-29469126	HepG2	liver:	n/a	n/a
43	CTBP2	chr22:29469949-29470393	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr22:29474409-29474459	Medullo	brain:	n/a	chr22:29474430-29474443 chr22:29474427-29474445
45	CTCF	chr22:29476760-29476910	HEEpiC	esophagus:	n/a	n/a
46	CTCF	chr22:29476720-29476870	BE2_C	brain:	n/a	n/a
47	CTCF	chr22:29474320-29474470	AG09309	skin:	n/a	chr22:29474430-29474443 chr22:29474427-29474445
48	CTCF	chr22:29476694-29476891	MCF-7	breast:	n/a	n/a
49	CTCF	chr22:29474480-29474630	NHDF-neo	bronchial:	n/a	n/a
50	CTCF	chr22:29476640-29476790	NHDF-neo	bronchial:	n/a	n/a

(count:916 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:29469014-29469064	GM12892	blood:	n/a
2	chr22:29469014-29469064	GM12892	blood:	n/a
3	chr22:29472754-29472804	NT2-D1	testis:	n/a
4	chr22:29469461-29469511	HNPCEpiC	eye:	n/a
5	chr22:29469014-29469064	ECC-1	luminal epithelium:	n/a
6	chr22:29467684-29467734	SK-N-MC	brain:	n/a
7	chr22:29468588-29468638	Hepatocyte	liver:	n/a
8	chr22:29469033-29469083	AG09319	gingival:	n/a
9	chr22:29472754-29472804	SK-N-SH_RA	brain:	n/a
10	chr22:29469014-29469064	HRCEpiC	kidney:	n/a
11	chr22:29468997-29469047	Hela-S3	cervix:	n/a
12	chr22:29467363-29467413	HL-60	blood:	n/a
13	chr22:29470232-29470282	HEK293	kidney:	embryo
14	chr22:29472754-29472804	HPAEpiC	pulmonary alveolar:	n/a
15	chr22:29467684-29467734	Hela-S3	cervix:	n/a
16	chr22:29468762-29468812	ECC-1	luminal epithelium:	n/a
17	chr22:29472754-29472804	PrEC	prostate:	n/a
18	chr22:29468762-29468812	NT2-D1	testis:	n/a
19	chr22:29469719-29469769	Hela-S3	cervix:	n/a
20	chr22:29470264-29470314	H1-hESC	embryonic stem cell:	embryo
21	chr22:29470264-29470314	AG04450	lung:	fetal
22	chr22:29467363-29467413	H1-hESC	embryonic stem cell:	embryo
23	chr22:29469035-29469085	HMEC	breast:	n/a
24	chr22:29469490-29469540	AG09319	gingival:	n/a
25	chr22:29467684-29467734	GM19239	blood:	n/a
26	chr22:29469035-29469085	HepG2	liver:	n/a
27	chr22:29469490-29469540	BJ	skin:	n/a
28	chr22:29468892-29468942	GM12891	blood:	n/a
29	chr22:29468997-29469047	BE2_C	brain:	n/a
30	chr22:29469490-29469540	PrEC	prostate:	n/a
31	chr22:29468588-29468638	HL-60	blood:	n/a
32	chr22:29470264-29470314	NHDF-neo	bronchial:	n/a
33	chr22:29470232-29470282	AG04450	lung:	fetal
34	chr22:29470232-29470282	HPAEpiC	pulmonary alveolar:	n/a
35	chr22:29467363-29467413	HIPEpiC	eye:	n/a
36	chr22:29470232-29470282	Hepatocyte	liver:	n/a
37	chr22:29468588-29468638	HCPEpiC	choroid plexus:	n/a
38	chr22:29467363-29467413	SK-N-MC	brain:	n/a
39	chr22:29469035-29469085	NHBE	bronchial:	n/a
40	chr22:29468588-29468638	HepG2	liver:	n/a
41	chr22:29469035-29469085	SAEC	small airway:	n/a
42	chr22:29470232-29470282	AG09319	gingival:	n/a
43	chr22:29470232-29470282	HNPCEpiC	eye:	n/a
44	chr22:29469035-29469085	AG09319	gingival:	n/a
45	chr22:29469033-29469083	AG04450	lung:	fetal
46	chr22:29469490-29469540	HEEpiC	esophagus:	n/a
47	chr22:29468892-29468942	SKMC	muscle:	n/a
48	chr22:29467684-29467734	Jurkat	blood:	n/a
49	chr22:29468588-29468638	GM06990	blood:	n/a
50	chr22:29467684-29467734	BJ	skin:	n/a

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:29474405..29475082-chr22:29550138..29550829,2	MCF-7	breast:
2	chr22:29478819..29480764-chr22:29547002..29549187,2	K562	blood:
3	chr22:29478442..29480805-chr22:29482878..29485430,2	K562	blood:
4	chr22:29473028..29475906-chr22:29476306..29479164,3	K562	blood:
5	chr22:29473028..29475906-chr22:29476306..29479164,3	K562	blood:
6	chr22:29191243..29192935-chr22:29470969..29473140,2	MCF-7	breast:
7	chr22:29467048..29472637-chr22:29472832..29480427,12	K562	blood:
8	chr22:29473632..29476528-chr22:29480609..29483295,2	K562	blood:
9	chr22:29209731..29211561-chr22:29476992..29478626,2	MCF-7	breast:
10	chr22:29279568..29281765-chr22:29467462..29470387,2	K562	blood:
11	chr22:29467730..29470328-chr22:29471275..29475318,5	MCF-7	breast:
12	chr22:29476336..29477171-chr22:29550139..29551099,3	MCF-7	breast:
13	chr22:29296014..29298873-chr22:29469784..29471423,2	K562	blood:
14	chr22:29468759..29472308-chr22:29473685..29477058,4	MCF-7	breast:
15	chr22:29473632..29476528-chr22:29480609..29483295,2	K562	blood:
16	chr22:29467758..29469551-chr22:29478358..29480650,2	K562	blood:
17	chr22:29473166..29474828-chr22:29640994..29643456,2	K562	blood:
18	chr22:29472899..29476008-chr22:29545567..29548841,3	K562	blood:
19	chr22:29473292..29476167-chr22:29497836..29499455,2	K562	blood:
20	chr22:29467955..29472236-chr22:29472275..29474803,7	K562	blood:
21	chr22:29477953..29480319-chr22:29546529..29549187,2	K562	blood:

No data

Variant related genes	Relation type
KREMEN1	TF binding region
KREMEN1	CpG island
ENSG00000183579	chromatin interactions
ENSG00000183762	chromatin interactions
ENSG00000272858	chromatin interactions

Extended variants
information (count: 503 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:503 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs134592	chr22:29467221-29467222	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs538519916	chr22:29467229-29467230	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs547700634	chr22:29467265-29467266	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs12628153	chr22:29467377-29467378	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs565538698	chr22:29467384-29467385	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs192598798	chr22:29467385-29467386	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs554155300	chr22:29467429-29467430	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs34101206	chr22:29467580-29467581	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs536771939	chr22:29467626-29467627	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs556447275	chr22:29467694-29467695	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs578150189	chr22:29467695-29467696	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs573956171	chr22:29467724-29467725	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs545354615	chr22:29467731-29467732	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs535935619	chr22:29467741-29467742	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs572460221	chr22:29467750-29467751	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs543001009	chr22:29467773-29467774	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs555684571	chr22:29467820-29467821	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs184462797	chr22:29467833-29467834	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs112647069	chr22:29467864-29467865	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs190044864	chr22:29467881-29467882	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs181170138	chr22:29468001-29468002	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs73882455	chr22:29468010-29468011	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs532385964	chr22:29468038-29468039	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs142146223	chr22:29468118-29468119	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs199754325	chr22:29468121-29468122	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs547368033	chr22:29468123-29468124	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs560025673	chr22:29468128-29468129	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs565600693	chr22:29468145-29468146	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs134593	chr22:29468155-29468156	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs547756786	chr22:29468163-29468164	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs569327885	chr22:29468174-29468175	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs536733913	chr22:29468187-29468188	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs376849011	chr22:29468249-29468250	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs571744632	chr22:29468320-29468321	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs539260465	chr22:29468331-29468332	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs186358882	chr22:29468352-29468353	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs142668842	chr22:29468394-29468395	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs189292175	chr22:29468441-29468442	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs543363096	chr22:29468444-29468445	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs554967181	chr22:29468450-29468451	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs134594	chr22:29468456-29468457	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs543527206	chr22:29468500-29468501	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs140636784	chr22:29468524-29468525	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs147820205	chr22:29468546-29468547	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs201014305	chr22:29468550-29468551	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs34967120	chr22:29468721-29468722	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs541174709	chr22:29468734-29468735	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs559146158	chr22:29468764-29468765	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs529905292	chr22:29468776-29468777	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs548113783	chr22:29468838-29468839	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
abnormal development	18461090	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Cat eye syndrome	16708226	CNVD
Olfactory neuroblastoma	18408657	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1076 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29462200-29467800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr22:29462400-29467800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr22:29462400-29467800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr22:29463800-29468400	Weak transcription	Dnd41	blood
5	chr22:29465000-29467400	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr22:29465400-29467400	Bivalent Enhancer	Fetal Muscle Leg	muscle
7	chr22:29465800-29467400	Weak transcription	Psoas Muscle	Psoas
8	chr22:29465800-29467800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:29465800-29468400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr22:29466400-29467400	Bivalent Enhancer	Fetal Thymus	thymus
11	chr22:29466400-29467800	Enhancers	Placenta	Placenta
12	chr22:29466600-29467400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr22:29466600-29467800	Enhancers	Stomach Mucosa	stomach
14	chr22:29466600-29468200	Enhancers	Esophagus	oesophagus
15	chr22:29466800-29467400	Flanking Active TSS	HepG2	liver
16	chr22:29466800-29467600	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr22:29466800-29468600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr22:29467000-29467400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
19	chr22:29467000-29467400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr22:29467000-29467400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr22:29467000-29467400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
22	chr22:29467000-29467400	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr22:29467000-29467400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr22:29467000-29467400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr22:29467000-29467400	Enhancers	Brain Hippocampus Middle	brain
26	chr22:29467000-29467400	Enhancers	Colonic Mucosa	Colon
27	chr22:29467000-29467400	Flanking Active TSS	Fetal Intestine Small	intestine
28	chr22:29467000-29467400	Flanking Active TSS	NHEK	skin
29	chr22:29467000-29467600	Enhancers	Liver	Liver
30	chr22:29467000-29467800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
31	chr22:29467000-29468000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
32	chr22:29467000-29468800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr22:29467000-29470400	Enhancers	Fetal Heart	heart
34	chr22:29467200-29467400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr22:29467200-29467400	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr22:29467200-29467400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
37	chr22:29467200-29467400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
38	chr22:29467200-29467400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr22:29467200-29467400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr22:29467200-29467400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
41	chr22:29467200-29467400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
42	chr22:29467200-29467400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr22:29467200-29467400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr22:29467200-29467400	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr22:29467200-29467400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
46	chr22:29467200-29467400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
47	chr22:29467200-29467400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
48	chr22:29467200-29467400	Enhancers	Pancreas	Pancrea
49	chr22:29467200-29467400	Flanking Bivalent TSS/Enh	Thymus	Thymus
50	chr22:29467200-29467400	Flanking Active TSS	HMEC	breast

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