Variant report

Variant	rs611637
Chromosome Location	chr11:64007731-64007732
allele	A/G
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	POLR2A	chr11:64007304-64013761	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr11:64007186-64009656	HepG2	liver:	n/a	n/a
3	NR2F2	chr11:64007580-64008943	MCF-7	breast:	n/a	n/a
4	TCF12	chr11:64007406-64008726	MCF-7	breast:	n/a	n/a
5	NR2F2	chr11:64007301-64010434	K562	blood:	n/a	n/a
6	MAX	chr11:64007639-64009309	MCF-7	breast:	n/a	chr11:64007976-64007985 chr11:64008868-64008878 chr11:64008273-64008283
7	POU2F2	chr11:64007622-64007821	GM12878	blood:	n/a	n/a
8	SPI1	chr11:64007581-64007859	K562	blood:	n/a	n/a
9	POLR2A	chr11:64007369-64012228	Hela-S3	cervix:	n/a	n/a
10	EP300	chr11:64007439-64008552	GM12878	blood:	n/a	chr11:64008414-64008421 chr11:64008352-64008359 chr11:64007443-64007459
11	TCF12	chr11:64007531-64008857	ECC-1	luminal epithelium:	n/a	n/a
12	STAT5A	chr11:64007166-64010357	GM12878	blood:	n/a	chr11:64009328-64009340 chr11:64009807-64009819 chr11:64008269-64008281 chr11:64010167-64010179 chr11:64009562-64009574
13	PAX5	chr11:64007553-64007799	GM12878	blood:	n/a	n/a
14	NFATC1	chr11:64007410-64008880	GM12878	blood:	n/a	n/a
15	POLR2A	chr11:64007368-64010160	GM19099	blood:	n/a	n/a
16	ATF2	chr11:64007264-64008587	GM12878	blood:	n/a	n/a
17	FOXM1	chr11:64007253-64008619	GM12878	blood:	n/a	n/a
18	MAFF	chr11:64007662-64008012	K562	blood:	n/a	n/a
19	TEAD4	chr11:64007194-64008824	K562	blood:	n/a	n/a
20	CUX1	chr11:64007681-64008170	GM12878	blood:	n/a	n/a
21	POLR2A	chr11:64007601-64012043	HUVEC	blood vessel:	n/a	n/a
22	NFYB	chr11:64007370-64007788	GM12878	blood:	n/a	n/a
23	SP1	chr11:64007434-64009745	GM12878	blood:	n/a	chr11:64009632-64009644 chr11:64008443-64008453 chr11:64008873-64008885 chr11:64008937-64008948 chr11:64008442-64008454 chr11:64008725-64008734 chr11:64008989-64008998 chr11:64009632-64009644 chr11:64009599-64009608 chr11:64008443-64008453 chr11:64008873-64008885 chr11:64009597-64009609 chr11:64008989-64008998 chr11:64008801-64008813 chr11:64008442-64008454 chr11:64008781-64008793 chr11:64008987-64008998 chr11:64008803-64008812 chr11:64008875-64008884 chr11:64009597-64009609 chr11:64009626-64009640 chr11:64008987-64008999 chr11:64009596-64009603 chr11:64009633-64009647 chr11:64008984-64008998 chr11:64008444-64008453 chr11:64008988-64008998 chr11:64008987-64008999 chr11:64008725-64008735 chr11:64008870-64008884 chr11:64008988-64008998 chr11:64009634-64009643 chr11:64008443-64008452 chr11:64008874-64008883 chr11:64008915-64008926 chr11:64008988-64008997 chr11:64008781-64008793 chr11:64008444-64008453
24	HCFC1	chr11:64007312-64010360	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr11:64007365-64010131	GM18526	blood:	n/a	n/a
26	POLR2A	chr11:64007059-64014115	SK-N-MC	brain:	n/a	n/a
27	NFATC1	chr11:64007262-64008855	GM12878	blood:	n/a	n/a
28	POLR2A	chr11:64007269-64010341	K562	blood:	n/a	n/a
29	POLR2A	chr11:64007265-64014108	U87	brain:	n/a	n/a
30	POLR2A	chr11:64007426-64010121	GM12878	blood:	n/a	n/a
31	MAX	chr11:64007576-64007790	K562	blood:	n/a	n/a
32	EGR1	chr11:64007574-64007814	GM12878	blood:	n/a	n/a
33	EBF1	chr11:64007239-64007804	GM12878	blood:	n/a	n/a
34	MXI1	chr11:64007551-64009438	GM12878	blood:	n/a	n/a
35	POLR2A	chr11:64007331-64010273	Hela-S3	cervix:	n/a	n/a
36	PML	chr11:64007475-64009464	K562	blood:	n/a	chr11:64007477-64007485
37	TAF1	chr11:64007615-64008015	GM12878	blood:	n/a	n/a
38	POLR2A	chr11:64007405-64010267	K562	blood:	n/a	n/a
39	PML	chr11:64007492-64009638	K562	blood:	n/a	n/a
40	CREB1	chr11:64007399-64008867	K562	blood:	n/a	n/a
41	POLR2A	chr11:64007496-64009934	NB4	blood:	n/a	n/a
42	HA-E2F1	chr11:64007576-64008592	MCF-7	breast:	n/a	chr11:64008548-64008557 chr11:64008406-64008415 chr11:64008443-64008452
43	POLR2A	chr11:64007402-64010313	Raji	blood:	n/a	n/a
44	MAFK	chr11:64007626-64007920	K562	blood:	n/a	n/a
45	HEY1	chr11:64007327-64010322	K562	blood:	n/a	chr11:64008612-64008627 chr11:64008863-64008878 chr11:64008438-64008453 chr11:64009305-64009320
46	RUNX3	chr11:64007176-64008884	GM12878	blood:	n/a	n/a
47	PAX5	chr11:64007472-64008087	GM12878	blood:	n/a	n/a
48	POLR2A	chr11:64007196-64010346	GM12892	blood:	n/a	n/a
49	TBP	chr11:64007510-64009220	GM12878	blood:	n/a	n/a
50	RELA	chr11:64007444-64008772	GM18526	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:64005251..64012775-chr11:64065543..64076594,19	MCF-7	breast:
2	chr11:62607544..62610637-chr11:64006903..64010081,3	MCF-7	breast:
3	chr11:64007608..64008385-chr16:28834777..28835600,2	Hela-S3	cervix:
4	chr11:63857028..63858533-chr11:64006606..64008468,2	K562	blood:
5	chr11:64007008..64012234-chr11:64122125..64125548,6	K562	blood:
6	chr11:64007679..64009892-chr13:92001604..92004305,2	K562	blood:
7	chr11:64004816..64010809-chr11:64048058..64057254,13	MCF-7	breast:
8	chr11:64007412..64008124-chr3:48514042..48514851,2	Hela-S3	cervix:
9	chr11:64006376..64009542-chr11:64085352..64088265,3	K562	blood:
10	chr11:63784023..63786647-chr11:64006820..64008419,2	K562	blood:
11	chr10:112257299..112258108-chr11:64007656..64008645,2	Hela-S3	cervix:
12	chr11:64003628..64022712-chr11:64064086..64078429,56	MCF-7	breast:
13	chr11:64006794..64010904-chr11:64055205..64058214,4	MCF-7	breast:
14	chr11:64006100..64009452-chr11:64096947..64099274,3	K562	blood:
15	chr11:64007434..64010097-chr6:26123452..26125154,2	K562	blood:
16	chr11:64006889..64009385-chr11:64105672..64108941,3	K562	blood:
17	chr11:64006071..64007767-chr11:64081275..64082893,2	MCF-7	breast:
18	chr11:64007566..64010545-chr11:64085469..64088420,4	MCF-7	breast:
19	chr11:63951070..63956024-chr11:64006485..64011246,10	MCF-7	breast:
20	chr11:64006660..64010446-chr11:64082567..64085290,3	K562	blood:
21	chr11:63931721..63935529-chr11:64007238..64009855,5	MCF-7	breast:

Variant related genes	Relation type
FKBP2	TF binding region
ENSG00000180596	Chromatin interaction
ENSG00000164054	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000133315	Chromatin interaction
ENSG00000173113	Chromatin interaction
ENSG00000168071	Chromatin interaction
ENSG00000215417	Chromatin interaction
ENSG00000138166	Chromatin interaction
ENSG00000168488	Chromatin interaction
ENSG00000173264	Chromatin interaction
ENSG00000180573	Chromatin interaction
ENSG00000236935	Chromatin interaction
ENSG00000173153	Chromatin interaction
ENSG00000219435	Chromatin interaction
ENSG00000168439	Chromatin interaction
ENSG00000182450	Chromatin interaction
ENSG00000126432	Chromatin interaction
ENSG00000002330	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs2246552	0.91[LWK][hapmap]
rs2429457	0.92[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2508208	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2510067	0.85[AMR][1000 genomes]
rs2515239	0.93[AFR][1000 genomes]
rs2515240	0.89[ASW][hapmap];0.92[LWK][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2622413	0.89[ASW][hapmap];0.96[LWK][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes]
rs2622415	0.93[YRI][hapmap]
rs2622416	0.93[YRI][hapmap]
rs2622421	0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs2622423	0.81[AFR][1000 genomes]
rs2622431	0.83[LWK][hapmap]
rs2701525	0.93[YRI][hapmap];0.93[AFR][1000 genomes]
rs2701526	0.93[AFR][1000 genomes]
rs2701528	0.89[ASW][hapmap];0.96[LWK][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes]
rs2701529	0.92[YRI][hapmap]
rs2701535	0.83[LWK][hapmap]
rs2845587	0.93[AFR][1000 genomes]
rs2845589	0.89[ASW][hapmap];0.96[LWK][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs2845591	0.89[ASW][hapmap];0.91[LWK][hapmap];0.93[YRI][hapmap]
rs2845598	0.93[AFR][1000 genomes]
rs35525149	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4294564	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4587731	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4980526	0.93[AFR][1000 genomes]
rs605187	1.00[AMR][1000 genomes]
rs60647009	0.93[AFR][1000 genomes]
rs620818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs632439	0.83[LWK][hapmap]
rs633557	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs633561	0.81[ASW][hapmap];0.82[LWK][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs668503	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh 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	254 gene(s)	inside rSNPs	diseases
2	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
3	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
4	nsv1035875	chr11:63800238-64132030	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
5	nsv469961	chr11:63822940-64085967	Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
6	nsv897660	chr11:63860826-64125142	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription 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	231 gene(s)	inside rSNPs	diseases
7	nsv897661	chr11:63863405-64129722	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
8	nsv897662	chr11:63889749-64150370	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
9	nsv897664	chr11:63919742-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS 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	237 gene(s)	inside rSNPs	diseases
10	nsv468592	chr11:63924446-64042997	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	166 gene(s)	inside rSNPs	diseases
11	nsv555184	chr11:63924446-64042997	Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	166 gene(s)	inside rSNPs	diseases
12	nsv897665	chr11:63927695-64026144	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	155 gene(s)	inside rSNPs	diseases
13	nsv897666	chr11:63929493-64026144	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	155 gene(s)	inside rSNPs	diseases
14	nsv869944	chr11:63932152-64123062	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
15	nsv468593	chr11:63941734-64089874	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
16	nsv555185	chr11:63941734-64089874	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription 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 target site	212 gene(s)	inside rSNPs	diseases
17	nsv555186	chr11:63949095-64097233	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
18	nsv468595	chr11:63953121-64027888	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	146 gene(s)	inside rSNPs	diseases
19	nsv555187	chr11:63953121-64027888	Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	146 gene(s)	inside rSNPs	diseases
20	nsv897667	chr11:63964657-64078380	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
21	nsv897668	chr11:63964657-64085298	Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	163 gene(s)	inside rSNPs	diseases
22	nsv897669	chr11:63964657-64089874	Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS 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 target site	164 gene(s)	inside rSNPs	diseases
23	nsv897670	chr11:63964657-64097233	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
24	nsv897671	chr11:63964657-64150370	Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer 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	179 gene(s)	inside rSNPs	diseases
25	nsv541061	chr11:63970174-64010995	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	76 gene(s)	inside rSNPs	diseases
26	nsv832186	chr11:63972260-64170059	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	180 gene(s)	inside rSNPs	diseases
27	nsv897672	chr11:63979643-64082807	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS 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 target site	140 gene(s)	inside rSNPs	diseases
28	esv1802320	chr11:63987425-64154633	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription 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	178 gene(s)	inside rSNPs	diseases
29	nsv897673	chr11:63991581-64018687	Flanking Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
30	nsv897675	chr11:63994692-64018687	Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	82 gene(s)	inside rSNPs	diseases
31	nsv897676	chr11:63994692-64022459	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	85 gene(s)	inside rSNPs	diseases
32	nsv897677	chr11:63994692-64023971	Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	85 gene(s)	inside rSNPs	diseases
33	nsv897678	chr11:63994692-64026144	Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	85 gene(s)	inside rSNPs	diseases
34	nsv897679	chr11:63994692-64150370	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
35	nsv897680	chr11:63997338-64022459	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	82 gene(s)	inside rSNPs	diseases
36	nsv897681	chr11:63998240-64022459	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	82 gene(s)	inside rSNPs	diseases
37	nsv541062	chr11:63998625-64015834	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
38	nsv541063	chr11:63998625-64020906	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
39	nsv541064	chr11:63998625-64036450	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription 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	84 gene(s)	inside rSNPs	diseases
40	nsv897682	chr11:63999529-64170500	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
41	esv18564	chr11:64001265-64018114	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
42	nsv1043277	chr11:64002997-64132030	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs611637	NUDT22	cis	lymphoblastoid	seeQTL
rs611637	NUDT22	cis	multi-tissue	Pritchard

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64003000-64007800	Genic enhancers	Fetal Muscle Trunk	muscle
2	chr11:64003400-64007800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr11:64003400-64008000	Weak transcription	Fetal Brain Male	brain
4	chr11:64003600-64007800	Weak transcription	Right Atrium	heart
5	chr11:64004400-64007800	Genic enhancers	Placenta	Placenta
6	chr11:64005000-64007800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr11:64005000-64007800	Genic enhancers	Fetal Muscle Leg	muscle
8	chr11:64005000-64008000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:64005000-64008400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr11:64005600-64007800	Enhancers	Pancreas	Pancrea
11	chr11:64005800-64008000	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr11:64006000-64008200	Weak transcription	Aorta	Aorta
13	chr11:64006200-64008000	Weak transcription	Ovary	ovary
14	chr11:64006400-64007800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:64006400-64007800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr11:64006400-64007800	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr11:64006600-64007800	Enhancers	Primary B cells from cord blood	blood
18	chr11:64006600-64007800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr11:64006600-64008000	Enhancers	Esophagus	oesophagus
20	chr11:64006800-64007800	Weak transcription	Brain Germinal Matrix	brain
21	chr11:64006800-64007800	Enhancers	Fetal Thymus	thymus
22	chr11:64006800-64007800	Weak transcription	Thymus	Thymus
23	chr11:64007000-64007800	Enhancers	Primary B cells from peripheral blood	blood
24	chr11:64007000-64008000	Enhancers	Spleen	Spleen
25	chr11:64007200-64007800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:64007200-64007800	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr11:64007200-64007800	Enhancers	Brain Anterior Caudate	brain
28	chr11:64007200-64007800	Enhancers	Brain Substantia Nigra	brain
29	chr11:64007200-64007800	Genic enhancers	Fetal Intestine Small	intestine
30	chr11:64007200-64007800	Enhancers	Left Ventricle	heart
31	chr11:64007200-64007800	Transcr. at gene 5' and 3'	Dnd41	blood
32	chr11:64007200-64008000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:64007200-64008000	Enhancers	Gastric	stomach
34	chr11:64007200-64008000	Enhancers	Lung	lung
35	chr11:64007200-64008000	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr11:64007200-64008000	Enhancers	Small Intestine	intestine
37	chr11:64007200-64008000	Flanking Active TSS	K562	blood
38	chr11:64007200-64008400	Flanking Active TSS	GM12878-XiMat	blood
39	chr11:64007400-64007800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr11:64007400-64007800	Enhancers	Primary T cells fromperipheralblood	blood
41	chr11:64007400-64007800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr11:64007400-64007800	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr11:64007400-64007800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
44	chr11:64007400-64007800	Enhancers	Brain Hippocampus Middle	brain
45	chr11:64007400-64007800	Enhancers	Psoas Muscle	Psoas
46	chr11:64007400-64007800	Enhancers	NHDF-Ad	bronchial
47	chr11:64007400-64008000	Enhancers	Primary T cells from cord blood	blood
48	chr11:64007400-64008000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr11:64007400-64008000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr11:64007400-64008000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links