Variant report

Variant	rs7118637
Chromosome Location	chr11:58673263-58673264
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	SP1	chr11:58673224-58673667	A549	lung:	n/a	chr11:58673375-58673396
2	TAF1	chr11:58672657-58673600	H1-neurons	neurons:	n/a	n/a
3	PBX3	chr11:58672570-58673851	SK-N-SH	brain:	n/a	chr11:58673417-58673437
4	MAX	chr11:58673236-58673796	SK-N-SH	brain:	n/a	chr11:58673548-58673559
5	TAF1	chr11:58672539-58673636	H1-hESC	embryonic stem cell:	n/a	n/a
6	SP1	chr11:58673084-58673766	H1-hESC	embryonic stem cell:	n/a	chr11:58673696-58673708 chr11:58673168-58673177 chr11:58673697-58673706 chr11:58673696-58673708 chr11:58673375-58673396
7	GTF2F1	chr11:58672793-58673732	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr11:58673150-58673674	SK-N-MC	brain:	n/a	n/a
9	ZNF263	chr11:58671256-58673866	HEK293-T-REx	kidney:	n/a	chr11:58671955-58671976 chr11:58671880-58671889
10	MAX	chr11:58673205-58673848	A549	lung:	n/a	chr11:58673548-58673559
11	TBP	chr11:58672670-58673742	H1-hESC	embryonic stem cell:	n/a	n/a
12	SP2	chr11:58673182-58673618	H1-hESC	embryonic stem cell:	n/a	chr11:58673416-58673439 chr11:58673412-58673422
13	MAX	chr11:58672506-58673760	SK-N-SH	brain:	n/a	chr11:58673548-58673559
14	E2F6	chr11:58673223-58673788	A549	lung:	n/a	chr11:58673476-58673483 chr11:58673476-58673483 chr11:58673272-58673281 chr11:58673472-58673484 chr11:58673476-58673483 chr11:58673475-58673484
15	POLR2A	chr11:58673199-58673533	H1-hESC	embryonic stem cell:	n/a	n/a
16	E2F6	chr11:58672587-58673855	H1-hESC	embryonic stem cell:	n/a	chr11:58673476-58673483 chr11:58673476-58673483 chr11:58673272-58673281 chr11:58673472-58673484 chr11:58673476-58673483 chr11:58673475-58673484
17	POLR2A	chr11:58672606-58673707	H1-neurons	neurons:	n/a	n/a
18	MAX	chr11:58672483-58673931	H1-hESC	embryonic stem cell:	n/a	chr11:58673548-58673559
19	NFYB	chr11:58672958-58673606	K562	blood:	n/a	chr11:58673376-58673386 chr11:58673411-58673425 chr11:58673374-58673388
20	FOS	chr11:58673256-58673515	MCF10A-Er-Src	breast:	n/a	n/a
21	E2F6	chr11:58672534-58674084	H1-hESC	embryonic stem cell:	n/a	chr11:58673476-58673483 chr11:58673476-58673483 chr11:58673272-58673281 chr11:58673472-58673484 chr11:58673476-58673483 chr11:58673475-58673484
22	NFYB	chr11:58673251-58673525	GM12878	blood:	n/a	chr11:58673376-58673386 chr11:58673411-58673425 chr11:58673374-58673388
23	POLR2A	chr11:58672600-58673435	IMR90	lung:	n/a	n/a
24	PBX3	chr11:58672601-58673789	SK-N-SH	brain:	n/a	chr11:58673417-58673437
25	POLR2A	chr11:58672554-58673695	H1-neurons	neurons:	n/a	n/a
26	SIN3A	chr11:58672415-58673795	H1-hESC	embryonic stem cell:	n/a	chr11:58673223-58673234
27	MXI1	chr11:58672155-58674226	SK-N-SH	brain:	n/a	n/a
28	MAX	chr11:58672477-58673886	H1-hESC	embryonic stem cell:	n/a	chr11:58673548-58673559
29	POLR2A	chr11:58672544-58673353	ProgFib	skin:	n/a	n/a
30	TAF1	chr11:58673221-58673409	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr11:58672473-58673794	H1-hESC	embryonic stem cell:	n/a	n/a
32	TAF7	chr11:58673203-58673678	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr11:58673241-58673616	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr11:58673202-58673323	A549	lung:	n/a	n/a
35	MAX	chr11:58673177-58673970	H1-hESC	embryonic stem cell:	n/a	chr11:58673548-58673559
36	POLR2A	chr11:58673211-58673351	H1-hESC	embryonic stem cell:	n/a	n/a
37	SP2	chr11:58673234-58673640	H1-hESC	embryonic stem cell:	n/a	chr11:58673416-58673439 chr11:58673412-58673422
38	POLR2A	chr11:58673207-58673304	A549	lung:	n/a	n/a
39	JUND	chr11:58672664-58673746	H1-hESC	embryonic stem cell:	n/a	n/a
40	REST	chr11:58672357-58673922	H1-neurons	neurons:	n/a	chr11:58672832-58672852 chr11:58672763-58672776 chr11:58672833-58672851 chr11:58672832-58672852
41	POLR2A	chr11:58672594-58673531	H1-hESC	embryonic stem cell:	n/a	n/a
42	SP1	chr11:58673215-58673660	A549	lung:	n/a	chr11:58673375-58673396
43	CHD2	chr11:58672662-58673757	H1-hESC	embryonic stem cell:	n/a	n/a
44	TCF12	chr11:58673244-58673693	H1-hESC	embryonic stem cell:	n/a	n/a
45	BACH1	chr11:58672951-58673767	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr11:58673191-58673524	SK-N-SH	brain:	n/a	n/a
47	POLR2A	chr11:58673216-58673388	SK-N-SH	brain:	n/a	n/a
48	PBX3	chr11:58673262-58673654	A549	lung:	n/a	chr11:58673417-58673437
49	SP1	chr11:58673164-58673684	H1-hESC	embryonic stem cell:	n/a	chr11:58673168-58673177 chr11:58673375-58673396

Variant related genes	Relation type
GLYATL2	TF binding region

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10792206	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10792207	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10896872	0.89[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10896873	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10896874	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10896875	0.89[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10896876	0.89[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10896877	0.89[CEU][hapmap];0.81[CHB][hapmap];0.87[JPT][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10896878	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10896879	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10896880	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10896882	0.89[CEU][hapmap];0.93[JPT][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10896883	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10896884	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11229687	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11229688	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11229689	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11229693	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11229694	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11229695	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11229701	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11229704	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11229705	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11229708	0.82[EUR][1000 genomes]
rs11229711	0.86[ASN][1000 genomes]
rs12222597	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12272494	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12277628	0.89[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12278662	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12281983	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12292314	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1808064	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1815856	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1893627	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1893628	0.89[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1893629	0.89[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1938786	0.89[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1943264	0.89[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2156344	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2156345	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2156349	0.94[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4271397	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4547111	0.89[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4573693	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4939243	0.93[CEU][hapmap];0.84[CHB][hapmap];0.81[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56155456	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58848038	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61889804	0.86[ASN][1000 genomes]
rs61889805	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61892604	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7108461	0.89[CEU][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7126489	0.94[CEU][hapmap];0.89[CHB][hapmap];0.87[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7129011	0.94[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73483072	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7930111	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7939049	0.94[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs948819	0.94[CEU][hapmap];0.81[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9787921	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv948365	chr11:58515163-59156405	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv1045858	chr11:58547772-58674568	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1052173	chr11:58553516-58678496	Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv3444895	chr11:58614102-58779384	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	esv3445007	chr11:58638330-58709867	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	esv3502182	chr11:58668199-58731237	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv3502181	chr11:58668236-58731215	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv3478019	chr11:58668282-58731214	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	esv3478030	chr11:58668282-58731214	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	esv3502183	chr11:58668353-58731177	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58671200-58673400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:58671200-58673800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:58671200-58673800	Active TSS	NHLF	lung
4	chr11:58671400-58673600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:58671400-58673800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:58671400-58673800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr11:58671800-58673400	Active TSS	NH-A	brain
8	chr11:58672000-58673600	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr11:58672000-58673600	Active TSS	Fetal Brain Female	brain
10	chr11:58672000-58673600	Active TSS	NHDF-Ad	bronchial
11	chr11:58672200-58673400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
12	chr11:58672200-58673600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr11:58672200-58673600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:58672200-58673600	Active TSS	Fetal Brain Male	brain
15	chr11:58672200-58674000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
16	chr11:58672400-58673400	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
17	chr11:58672400-58673400	Active TSS	Brain Germinal Matrix	brain
18	chr11:58672400-58673600	Active TSS	H9 Cell Line	embryonic stem cell
19	chr11:58672400-58673600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:58672400-58673600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr11:58672400-58673600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
22	chr11:58672400-58673600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:58672400-58673600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:58672400-58673600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
25	chr11:58672400-58673600	Active TSS	A549	lung
26	chr11:58672400-58673800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:58672400-58673800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:58672400-58673800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:58672400-58673800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:58672400-58673800	Active TSS	Fetal Kidney	kidney
31	chr11:58672400-58673800	Active TSS	HSMM	muscle
32	chr11:58672400-58673800	Active TSS	Osteobl	bone
33	chr11:58672600-58673400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:58672600-58673600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
35	chr11:58672600-58673600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
36	chr11:58672600-58673600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
37	chr11:58672600-58673600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:58672600-58673600	Bivalent/Poised TSS	Colonic Mucosa	Colon
39	chr11:58672600-58673600	Enhancers	Lung	lung
40	chr11:58672600-58673600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
41	chr11:58672600-58673600	Bivalent/Poised TSS	HUVEC	blood vessel
42	chr11:58672600-58673800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
43	chr11:58672600-58673800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
44	chr11:58672600-58673800	Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr11:58672600-58673800	Active TSS	Brain Substantia Nigra	brain
46	chr11:58672600-58673800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
47	chr11:58672600-58673800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
48	chr11:58672600-58674000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
49	chr11:58672600-58674000	Bivalent Enhancer	Placenta	Placenta
50	chr11:58672800-58673400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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