Variant report

Variant	rs12805811
Chromosome Location	chr11:67173240-67173241
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	NR2F2	chr11:67173212-67174052	MCF-7	breast:	n/a	n/a
2	ESRRA	chr11:67173068-67174150	GM12878	blood:	n/a	chr11:67173846-67173858 chr11:67173493-67173503 chr11:67173493-67173505 chr11:67173634-67173644 chr11:67173492-67173505 chr11:67173722-67173732 chr11:67173649-67173662 chr11:67173650-67173660 chr11:67173489-67173505 chr11:67173846-67173856 chr11:67173646-67173662 chr11:67173493-67173503 chr11:67173650-67173660 chr11:67173845-67173858 chr11:67173650-67173662 chr11:67173494-67173510 chr11:67173634-67173644 chr11:67173846-67173856

No.	Distal block	Cell Line	Cell type
1	chr11:67172672..67175218-chr11:67274575..67276166,2	K562	blood:
2	chr11:67171798..67174416-chr11:67233067..67235225,2	K562	blood:
3	chr11:67172860..67176369-chr11:67201428..67204494,3	K562	blood:
4	chr11:67172030..67174041-chr11:67273255..67275268,2	MCF-7	breast:
5	chr11:67141172..67143536-chr11:67171363..67173683,2	K562	blood:
6	chr11:67171679..67173695-chr11:67249098..67251684,2	MCF-7	breast:

Variant related genes	Relation type
PPP1CA	TF binding region
TBC1D10C	TF binding region
ENSG00000110697	Chromatin interaction
ENSG00000172663	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000167797	Chromatin interaction
ENSG00000110711	Chromatin interaction
ENSG00000255949	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10736657	0.81[ASN][1000 genomes]
rs10896166	0.90[ASN][1000 genomes]
rs10896172	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs12288048	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap]
rs12788405	0.89[EUR][1000 genomes]
rs12791853	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1419861	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1558257	1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap]
rs1638569	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17878756	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17883741	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1790731	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1790735	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1790737	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1790738	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1790739	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1790762	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1894112	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1944096	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2066496	0.86[MEX][hapmap]
rs2286619	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2286620	0.85[MEX][hapmap]
rs2298815	0.88[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2429459	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2429463	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2511057	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2514257	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2532605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2852875	0.87[ASN][1000 genomes]
rs34000912	0.83[ASN][1000 genomes]
rs34087937	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35176549	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35821109	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35876769	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3737460	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4244822	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4930197	1.00[GIH][hapmap]
rs61734600	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6591241	0.83[ASN][1000 genomes]
rs66466718	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71457775	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7394531	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7934433	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs867193	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9326373	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9734588	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers 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	271 gene(s)	inside rSNPs	diseases
2	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
4	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
5	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
6	nsv1047890	chr11:67058231-67184436	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
7	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers 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 miRNA target site	146 gene(s)	inside rSNPs	diseases
8	nsv897804	chr11:67090571-67224278	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
9	nsv1039205	chr11:67135246-67252397	Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
10	esv1818769	chr11:67138811-67300457	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
11	esv1798859	chr11:67139954-67272983	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers 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	154 gene(s)	inside rSNPs	diseases
12	nsv897805	chr11:67155210-67283891	ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
13	nsv897806	chr11:67155210-67294308	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
14	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer 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	176 gene(s)	inside rSNPs	diseases
15	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
16	nsv897809	chr11:67156875-67276235	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
17	nsv516453	chr11:67164495-67186000	Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
18	nsv555254	chr11:67164495-67288594	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' 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	146 gene(s)	inside rSNPs	diseases
19	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
20	nsv897810	chr11:67166310-67196237	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
21	nsv897811	chr11:67166984-67218909	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67169800-67174400	Weak transcription	Brain Angular Gyrus	brain
2	chr11:67169800-67174600	Weak transcription	HSMMtube	muscle
3	chr11:67169800-67175000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:67169800-67175000	Weak transcription	Fetal Brain Male	brain
5	chr11:67169800-67176800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:67169800-67177800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:67169800-67178000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:67170000-67174000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr11:67170000-67174400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:67170000-67177200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr11:67170000-67177200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr11:67170000-67182800	Weak transcription	Right Atrium	heart
13	chr11:67170200-67173600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr11:67170200-67173600	Weak transcription	Brain Substantia Nigra	brain
15	chr11:67170200-67174400	Weak transcription	Right Ventricle	heart
16	chr11:67170200-67175800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:67170200-67176600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr11:67170800-67174000	Weak transcription	Brain Hippocampus Middle	brain
19	chr11:67171000-67173400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr11:67171000-67176800	Weak transcription	Lung	lung
21	chr11:67171000-67177200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr11:67171400-67176600	Weak transcription	Left Ventricle	heart
23	chr11:67171400-67177400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr11:67171600-67176000	Transcr. at gene 5' and 3'	Dnd41	blood
25	chr11:67171600-67177200	Weak transcription	Pancreas	Pancrea
26	chr11:67171600-67177800	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
27	chr11:67171800-67173600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr11:67172000-67174800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:67172200-67177200	Weak transcription	Gastric	stomach
30	chr11:67172400-67173600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr11:67172400-67173800	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
32	chr11:67172400-67174400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr11:67172400-67175800	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
34	chr11:67172400-67176800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:67172400-67177800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:67172400-67177800	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
37	chr11:67172400-67177800	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
38	chr11:67172400-67178000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr11:67172600-67173600	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr11:67172600-67174400	Weak transcription	Esophagus	oesophagus
41	chr11:67172600-67174800	Weak transcription	HSMM	muscle
42	chr11:67172600-67175600	Genic enhancers	Primary monocytes fromperipheralblood	blood
43	chr11:67172600-67177200	Weak transcription	Hela-S3	cervix
44	chr11:67172600-67177600	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr11:67172600-67177800	Weak transcription	K562	blood
46	chr11:67172600-67178400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr11:67172800-67173400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr11:67172800-67173400	Enhancers	Fetal Intestine Small	intestine
49	chr11:67172800-67173600	Enhancers	Brain Anterior Caudate	brain
50	chr11:67172800-67174200	Enhancers	HepG2	liver

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