Variant report

Variant	rs738089
Chromosome Location	chr22:20772598-20772599
allele	C/T
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	CTCF	chr22:20772480-20772630	HAc	cerebellar:	n/a	chr22:20772595-20772616 chr22:20772596-20772609 chr22:20772593-20772611
2	CTCF	chr22:20772540-20772690	AG04450	lung:	n/a	chr22:20772595-20772616 chr22:20772596-20772609 chr22:20772593-20772611
3	CTCF	chr22:20772250-20773029	A549	lung:	n/a	chr22:20772595-20772616 chr22:20772596-20772609 chr22:20772593-20772611
4	ZNF143	chr22:20772466-20772774	H1-hESC	embryonic stem cell:	n/a	n/a
5	YY1	chr22:20772425-20773055	K562	blood:	n/a	n/a
6	SRF	chr22:20772424-20772757	ECC-1	luminal epithelium:	n/a	n/a
7	RCOR1	chr22:20772548-20772771	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr22:20772560-20772710	GM12867	blood:	n/a	chr22:20772595-20772616 chr22:20772596-20772609 chr22:20772593-20772611
9	CTCF	chr22:20772560-20772710	AG04449	skin:	n/a	chr22:20772595-20772616 chr22:20772596-20772609 chr22:20772593-20772611
10	RAD21	chr22:20772325-20772982	MCF-7	breast:	n/a	chr22:20772594-20772613 chr22:20772599-20772611 chr22:20772597-20772610
11	YY1	chr22:20772497-20772785	A549	lung:	n/a	n/a
12	YY1	chr22:20772346-20772847	H1-hESC	embryonic stem cell:	n/a	n/a
13	ARID3A	chr22:20772480-20772950	HepG2	liver:	n/a	n/a
14	MYBL2	chr22:20772326-20772722	HepG2	liver:	n/a	n/a
15	CTCF	chr22:20772451-20772774	GM19238	blood:	n/a	chr22:20772595-20772616 chr22:20772596-20772609 chr22:20772593-20772611
16	CTCF	chr22:20772486-20772735	H1-hESC	embryonic stem cell:	n/a	chr22:20772595-20772616 chr22:20772596-20772609 chr22:20772593-20772611
17	CTCF	chr22:20772560-20772710	GM12872	blood:	n/a	chr22:20772595-20772616 chr22:20772596-20772609 chr22:20772593-20772611
18	RAD21	chr22:20772429-20772783	GM12878	blood:	n/a	chr22:20772594-20772613 chr22:20772599-20772611 chr22:20772597-20772610
19	RAD21	chr22:20772461-20772791	A549	lung:	n/a	chr22:20772594-20772613 chr22:20772599-20772611 chr22:20772597-20772610
20	CTCF	chr22:20772520-20772670	AG09319	gingival:	n/a	chr22:20772595-20772616 chr22:20772596-20772609 chr22:20772593-20772611
21	CTCF	chr22:20772500-20772650	NHEK	skin:	n/a	chr22:20772595-20772616 chr22:20772596-20772609 chr22:20772593-20772611
22	YY1	chr22:20772376-20772823	GM12892	blood:	n/a	n/a
23	MYC	chr22:20772426-20772867	K562	blood:	n/a	n/a
24	CTCF	chr22:20772391-20772836	K562	blood:	n/a	chr22:20772595-20772616 chr22:20772596-20772609 chr22:20772593-20772611
25	CEBPB	chr22:20772169-20772714	K562	blood:	n/a	chr22:20772328-20772339
26	YY1	chr22:20772477-20772717	HCT-116	colon:	n/a	n/a
27	TCF12	chr22:20772372-20772951	A549	lung:	n/a	n/a
28	CTCF	chr22:20772540-20772690	GM12873	blood:	n/a	chr22:20772595-20772616 chr22:20772596-20772609 chr22:20772593-20772611
29	RAD21	chr22:20772325-20773013	ECC-1	luminal epithelium:	n/a	chr22:20772594-20772613 chr22:20772599-20772611 chr22:20772597-20772610
30	CTCF	chr22:20772483-20772756	LNCaP	prostate:	n/a	chr22:20772595-20772616 chr22:20772596-20772609 chr22:20772593-20772611
31	CTCF	chr22:20772520-20772670	AoAF	blood vessel:	n/a	chr22:20772595-20772616 chr22:20772596-20772609 chr22:20772593-20772611
32	CTCF	chr22:20772560-20772710	GM12871	blood:	n/a	chr22:20772595-20772616 chr22:20772596-20772609 chr22:20772593-20772611
33	CCNT2	chr22:20772506-20773043	K562	blood:	n/a	n/a
34	CTCF	chr22:20772520-20772670	HEEpiC	esophagus:	n/a	chr22:20772595-20772616 chr22:20772596-20772609 chr22:20772593-20772611
35	MYBL2	chr22:20772350-20772878	HepG2	liver:	n/a	n/a
36	CTCF	chr22:20772480-20772752	A549	lung:	n/a	chr22:20772595-20772616 chr22:20772596-20772609 chr22:20772593-20772611
37	CEBPB	chr22:20772359-20772700	H1-hESC	embryonic stem cell:	n/a	n/a
38	YY1	chr22:20772379-20772860	HepG2	liver:	n/a	n/a
39	MXI1	chr22:20772454-20772763	K562	blood:	n/a	n/a
40	CTCF	chr22:20772379-20772806	A549	lung:	n/a	chr22:20772595-20772616 chr22:20772596-20772609 chr22:20772593-20772611
41	CTCF	chr22:20772540-20772690	GM12875	blood:	n/a	chr22:20772595-20772616 chr22:20772596-20772609 chr22:20772593-20772611
42	CTCF	chr22:20772520-20772670	WERI-Rb-1	eye:	n/a	chr22:20772595-20772616 chr22:20772596-20772609 chr22:20772593-20772611
43	PAX5	chr22:20772487-20772730	GM12878	blood:	n/a	n/a
44	CTCF	chr22:20772540-20772690	AG04449	skin:	n/a	chr22:20772595-20772616 chr22:20772596-20772609 chr22:20772593-20772611
45	YY1	chr22:20772392-20772799	GM12878	blood:	n/a	n/a
46	MAZ	chr22:20772433-20772989	K562	blood:	n/a	n/a
47	TCF12	chr22:20772487-20772787	A549	lung:	n/a	n/a
48	CTCFL	chr22:20772487-20772724	K562	blood:	n/a	n/a
49	CTCF	chr22:20772560-20772710	NHEK	skin:	n/a	chr22:20772595-20772616 chr22:20772596-20772609 chr22:20772593-20772611
50	CTCF	chr22:20772520-20772670	SK-N-SH_RA	brain:	n/a	chr22:20772595-20772616 chr22:20772596-20772609 chr22:20772593-20772611

No.	Distal block	Cell Line	Cell type
1	chr22:20772158..20773986-chr22:20850314..20851420,13	K562	blood:
2	chr22:20772326..20773081-chr22:21027976..21028657,2	K562	blood:
3	chr22:20772311..20773453-chr22:21095561..21096671,7	K562	blood:
4	chr22:20304862..20305860-chr22:20772145..20772996,2	K562	blood:
5	chr22:20772162..20773113-chr22:20810212..20811108,4	MCF-7	breast:
6	chr22:20772128..20772843-chr22:20960337..20961118,2	K562	blood:
7	chr22:20772149..20773119-chr22:20810244..20811221,6	MCF-7	breast:
8	chr22:20772153..20773083-chr22:20918220..20919247,5	K562	blood:
9	chr22:20772349..20772857-chr22:31151086..31151590,2	K562	blood:
10	chr22:20772465..20773004-chr22:21051541..21052411,2	MCF-7	breast:
11	chr22:20771930..20775784-chr22:20809121..20811896,66	K562	blood:
12	chr22:20772142..20773325-chr22:21138294..21139177,3	K562	blood:
13	chr22:20772380..20773257-chr22:20850544..20851361,3	MCF-7	breast:
14	chr22:20772166..20773234-chr22:20925542..20926325,4	K562	blood:
15	chr22:20753656..20756032-chr22:20772509..20775334,2	K562	blood:
16	chr22:20772083..20773030-chr22:21051919..21052745,4	K562	blood:
17	chr22:20772586..20776036-chr22:20810176..20812290,3	K562	blood:

Variant related genes	Relation type
RNU6-225P	TF binding region
ENSG00000185252	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1771146	0.81[CEU][hapmap]
rs362220	0.94[EUR][1000 genomes]
rs6005740	0.81[CEU][hapmap]
rs7286419	0.81[ASN][1000 genomes]
rs738085	1.00[CEU][hapmap];0.84[CHB][hapmap];0.82[CHD][hapmap];0.80[GIH][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs874101	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv518950	chr22:20306993-20965555	Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
2	nsv432174	chr22:20309346-21102446	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
3	nsv1059066	chr22:20330744-20845128	Genic enhancers Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
4	nsv1056614	chr22:20470598-21462724	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
5	nsv828952	chr22:20641693-20776004	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv828954	chr22:20641693-20904711	Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
7	nsv491637	chr22:20659547-21440514	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
8	nsv916634	chr22:20659547-21464119	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
9	nsv533942	chr22:20659547-21505417	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
10	nsv529472	chr22:20659547-21561514	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
11	nsv914390	chr22:20697466-21460008	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
12	nsv588291	chr22:20698139-21461274	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
13	nsv917647	chr22:20708889-21440515	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
14	nsv531742	chr22:20708890-21407690	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
15	nsv533852	chr22:20708890-21561514	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
16	nsv1061867	chr22:20716924-21462446	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
17	nsv1058870	chr22:20716924-21567219	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
18	nsv918225	chr22:20716924-21611338	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
19	nsv914391	chr22:20718116-20793914	Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
20	nsv914392	chr22:20718116-20817808	Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
21	nsv914393	chr22:20718116-21034788	Genic enhancers Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
22	nsv531744	chr22:20718170-21427936	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
23	nsv834135	chr22:20724378-20845563	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
24	nsv915954	chr22:20732437-21505417	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
25	nsv588293	chr22:20732809-21004476	Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
26	nsv948669	chr22:20732809-21461607	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
27	nsv531746	chr22:20733427-21505417	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
28	nsv588294	chr22:20733495-21365384	Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
29	nsv588295	chr22:20733495-21462353	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
30	nsv588296	chr22:20733495-21465780	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
31	nsv1061472	chr22:20734244-20858186	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
32	nsv1056065	chr22:20734244-21460658	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
33	nsv544586	chr22:20734244-21460658	Strong transcription Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
34	nsv519901	chr22:20737903-20783721	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
35	nsv834136	chr22:20738730-20891767	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
36	nsv1067074	chr22:20739124-21440654	Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
37	nsv544587	chr22:20739124-21440654	Weak transcription Strong transcription Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
38	nsv1066482	chr22:20739125-21440655	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
39	nsv544588	chr22:20739125-21440655	Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
40	nsv1065725	chr22:20739324-20927615	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
41	nsv544589	chr22:20739324-20927615	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
42	nsv1063333	chr22:20739324-21353297	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
43	nsv544590	chr22:20739324-21353297	Genic enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
44	nsv1059978	chr22:20739324-21440515	Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
45	nsv544591	chr22:20739324-21440515	Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
46	nsv914394	chr22:20741890-20789074	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
47	nsv949306	chr22:20742450-21461607	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
48	nsv523162	chr22:20743536-21462353	Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
49	nsv914396	chr22:20745201-20789074	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
50	nsv914397	chr22:20745201-20806361	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs738089	GSC2	cis	parietal	SCAN
rs738089	SLC25A1	cis	cerebellum	SCAN
rs738089	TUBA8	cis	parietal	SCAN
rs738089	LIX1	trans	parietal	SCAN
rs738089	BCL2L13	cis	parietal	SCAN

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:20758000-20772600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr22:20761200-20772600	Weak transcription	HMEC	breast
3	chr22:20761400-20772600	Weak transcription	Colonic Mucosa	Colon
4	chr22:20761400-20772600	Weak transcription	Esophagus	oesophagus
5	chr22:20761400-20772600	Weak transcription	Right Ventricle	heart
6	chr22:20761400-20772600	Weak transcription	GM12878-XiMat	blood
7	chr22:20761400-20772800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr22:20761600-20772600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr22:20761600-20772600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr22:20761600-20772600	Weak transcription	Brain Substantia Nigra	brain
11	chr22:20761600-20772600	Weak transcription	Fetal Kidney	kidney
12	chr22:20761600-20772600	Weak transcription	Left Ventricle	heart
13	chr22:20761800-20772600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr22:20761800-20772600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr22:20761800-20772600	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr22:20761800-20772600	Weak transcription	Brain Anterior Caudate	brain
17	chr22:20761800-20772600	Weak transcription	Pancreas	Pancrea
18	chr22:20761800-20772600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr22:20761800-20779200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr22:20762000-20772600	Weak transcription	Placenta	Placenta
21	chr22:20762200-20772600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr22:20762200-20772600	Weak transcription	Liver	Liver
23	chr22:20762200-20772600	Weak transcription	HSMMtube	muscle
24	chr22:20762400-20772600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr22:20762400-20772600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr22:20762400-20772600	Weak transcription	Brain Angular Gyrus	brain
27	chr22:20762400-20775200	Weak transcription	Gastric	stomach
28	chr22:20762600-20772600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr22:20762600-20772600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr22:20762600-20772600	Weak transcription	Primary T cells from cord blood	blood
31	chr22:20762600-20772600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr22:20762600-20772600	Weak transcription	Brain Hippocampus Middle	brain
33	chr22:20762600-20779400	Weak transcription	Lung	lung
34	chr22:20762800-20772600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr22:20762800-20772600	Weak transcription	Primary hematopoietic stem cells	blood
36	chr22:20762800-20772600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr22:20766800-20772600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr22:20767000-20776400	Weak transcription	Fetal Lung	lung
39	chr22:20767200-20772600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr22:20767200-20772800	Weak transcription	Spleen	Spleen
41	chr22:20767400-20772600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr22:20768600-20772600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr22:20772000-20772600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr22:20772200-20772600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr22:20772200-20772600	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr22:20772200-20772600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
47	chr22:20772200-20772600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr22:20772200-20772600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr22:20772200-20772600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
50	chr22:20772200-20772600	Enhancers	Skeletal Muscle Female	skeletal muscle

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