Variant report

Variant	rs2509967
Chromosome Location	chr11:62312786-62312787
allele	C/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	EGR1	chr11:62312557-62313613	K562	blood:	n/a	chr11:62313141-62313155 chr11:62312900-62312913 chr11:62312809-62312831 chr11:62313143-62313154 chr11:62313139-62313153 chr11:62313350-62313360 chr11:62312983-62312998 chr11:62313143-62313154
2	MAX	chr11:62312553-62313659	MCF-7	breast:	n/a	chr11:62313404-62313414
3	SMC3	chr11:62312116-62314807	Hela-S3	cervix:	n/a	chr11:62313812-62313819
4	MAX	chr11:62309970-62316873	A549	lung:	n/a	chr11:62312136-62312143 chr11:62313404-62313414 chr11:62311091-62311106 chr11:62311095-62311104 chr11:62311097-62311113 chr11:62311096-62311103 chr11:62311094-62311105 chr11:62310437-62310446 chr11:62315029-62315039 chr11:62311094-62311104 chr11:62316366-62316375
5	CHD2	chr11:62312083-62314886	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr11:62312565-62312835	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:62309566-62314891	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr11:62312235-62313883	HCT-116	colon:	n/a	n/a
9	EP300	chr11:62311960-62314081	A549	lung:	n/a	chr11:62313696-62313712
10	POLR2A	chr11:62312473-62312819	K562	blood:	n/a	n/a
11	ZKSCAN1	chr11:62312225-62313630	Hela-S3	cervix:	n/a	n/a
12	MYC	chr11:62312021-62314673	NB4	blood:	n/a	chr11:62312136-62312143 chr11:62313404-62313414
13	SP1	chr11:62312649-62314267	A549	lung:	n/a	chr11:62313298-62313307 chr11:62313551-62313560 chr11:62313336-62313345 chr11:62312987-62312999 chr11:62313297-62313309 chr11:62313188-62313202 chr11:62313299-62313308 chr11:62312989-62312998 chr11:62313193-62313204
14	MYBL2	chr11:62312784-62313408	HepG2	liver:	n/a	n/a
15	POLR2A	chr11:62309984-62315714	HUVEC	blood vessel:	n/a	n/a
16	CTCF	chr11:62312740-62312890	GM12872	blood:	n/a	n/a
17	POLR2A	chr11:62311622-62315026	ProgFib	skin:	n/a	n/a
18	E2F6	chr11:62312781-62313221	K562	blood:	n/a	n/a
19	KAP1	chr11:62312330-62313443	U2OS	brain:	n/a	n/a
20	RCOR1	chr11:62312637-62314274	K562	blood:	n/a	n/a
21	POLR2A	chr11:62312570-62314484	SK-N-SH	brain:	n/a	n/a
22	NFIC	chr11:62312593-62314484	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr11:62312553-62313185	GM12878	blood:	n/a	n/a
24	POLR2A	chr11:62309985-62314761	PFSK-1	brain:	n/a	n/a
25	MAZ	chr11:62312120-62314865	Hela-S3	cervix:	n/a	chr11:62312136-62312143 chr11:62313404-62313414
26	MYC	chr11:62312448-62313757	K562	blood:	n/a	chr11:62313404-62313414
27	CCNT2	chr11:62312525-62314356	K562	blood:	n/a	chr11:62312989-62312998
28	POLR2A	chr11:62309853-62314609	U87	brain:	n/a	n/a
29	CTCF	chr11:62312760-62312910	GM06990	blood:	n/a	n/a
30	MAX	chr11:62312570-62313487	K562	blood:	n/a	chr11:62313404-62313414
31	HMGN3	chr11:62312455-62314988	K562	blood:	n/a	n/a
32	SIN3AK20	chr11:62311496-62315557	PANC-1	pancreas:	n/a	n/a
33	POLR2A	chr11:62312486-62314613	MCF-7	breast:	n/a	n/a
34	SMARCC1	chr11:62311698-62314141	Hela-S3	cervix:	n/a	n/a
35	SIN3AK20	chr11:62312594-62313348	A549	lung:	n/a	n/a
36	MXI1	chr11:62312595-62312841	K562	blood:	n/a	n/a
37	MXI1	chr11:62312335-62313687	Hela-S3	cervix:	n/a	n/a
38	BHLHE40	chr11:62312533-62313379	K562	blood:	n/a	n/a
39	NFIC	chr11:62312582-62314374	ECC-1	luminal epithelium:	n/a	n/a
40	GATA3	chr11:62311952-62314626	A549	lung:	n/a	chr11:62312209-62312219
41	MAX	chr11:62312454-62314720	ECC-1	luminal epithelium:	n/a	chr11:62313404-62313414
42	RELA	chr11:62312124-62313059	GM18951	blood:	n/a	chr11:62312237-62312246 chr11:62312237-62312246
43	SMARCC2	chr11:62312284-62313296	Hela-S3	cervix:	n/a	n/a
44	TCF12	chr11:62311919-62316972	A549	lung:	n/a	chr11:62313556-62313566 chr11:62314439-62314449 chr11:62315752-62315762
45	ZBTB7A	chr11:62312581-62313864	K562	blood:	n/a	chr11:62313368-62313375 chr11:62313664-62313673 chr11:62313080-62313088
46	SIN3AK20	chr11:62312540-62313879	SK-N-SH	brain:	n/a	n/a
47	POLR2A	chr11:62312017-62314779	Hela-S3	cervix:	n/a	n/a
48	MYC	chr11:62312599-62312833	MCF-7	breast:	n/a	n/a
49	ZNF263	chr11:62312030-62314253	HEK293-T-REx	kidney:	n/a	chr11:62313194-62313203 chr11:62313140-62313149 chr11:62313217-62313226 chr11:62313180-62313201
50	POLR2A	chr11:62308122-62315675	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:62311584..62314251-chr11:62412170..62416560,6	MCF-7	breast:
2	chr11:62312720..62314828-chr16:2038368..2040366,2	MCF-7	breast:
3	chr11:62312632..62314596-chr11:62553927..62555520,2	MCF-7	breast:
4	chr11:62312439..62314091-chr11:62432675..62434245,2	K562	blood:
5	chr11:62310191..62312888-chr11:62358804..62361545,2	MCF-7	breast:
6	chr11:62312633..62315593-chr11:62378252..62381432,4	MCF-7	breast:
7	chr11:62310407..62313306-chr11:62606623..62609508,2	MCF-7	breast:
8	chr11:62310047..62312919-chr11:62648924..62650473,2	K562	blood:
9	chr11:62310730..62313122-chr11:62436444..62438934,2	MCF-7	breast:
10	chr11:62249543..62252001-chr11:62311288..62312995,2	MCF-7	breast:
11	chr11:62159799..62162397-chr11:62312020..62313831,2	MCF-7	breast:
12	chr11:62312627..62313318-chr2:114514037..114514594,2	Hela-S3	cervix:
13	chr11:62311884..62313968-chr11:62431155..62433460,2	MCF-7	breast:
14	chr11:62304373..62307124-chr11:62312690..62314271,2	K562	blood:
15	chr11:62312413..62313093-chr4:83821481..83822216,2	Hela-S3	cervix:
16	chr11:62310701..62316525-chr11:62336307..62345701,21	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257058	TF binding region
ENSG00000269176	Chromatin interaction
ENSG00000149499	Chromatin interaction
ENSG00000185475	Chromatin interaction
ENSG00000138674	Chromatin interaction
ENSG00000254772	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000115084	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000168152	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000127561	Chromatin interaction
ENSG00000255126	Chromatin interaction
ENSG00000149489	Chromatin interaction
ENSG00000149016	Chromatin interaction
ENSG00000204922	Chromatin interaction
ENSG00000255508	Chromatin interaction
ENSG00000255432	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000250659	Chromatin interaction
ENSG00000089597	Chromatin interaction
ENSG00000261790	Chromatin interaction
ENSG00000251022	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1061093	0.84[EUR][1000 genomes]
rs11231138	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11231141	0.87[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11231144	0.87[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11231145	0.87[EUR][1000 genomes]
rs11231150	0.88[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs11231151	0.83[EUR][1000 genomes]
rs11231152	0.83[EUR][1000 genomes]
rs11231154	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs11231155	0.92[CEU][hapmap];0.88[CHB][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11231156	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs11231161	0.92[CEU][hapmap]
rs11553576	0.92[CEU][hapmap]
rs12225213	0.88[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs17773169	0.96[CEU][hapmap];1.00[CHB][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1801144	0.81[CEU][hapmap];0.88[CHB][hapmap]
rs2428548	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2428549	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2428551	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2509961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2509962	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2509982	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2512562	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2512563	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2516633	0.88[CHB][hapmap];0.89[YRI][hapmap]
rs2516634	0.81[EUR][1000 genomes]
rs2849030	0.92[CEU][hapmap];0.88[CHB][hapmap]
rs2849031	0.92[CEU][hapmap];0.88[CHB][hapmap];0.80[EUR][1000 genomes]
rs35156678	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs35587183	1.00[CHB][hapmap]
rs58720921	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61296092	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7124057	0.87[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs71490390	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71490392	0.82[EUR][1000 genomes]
rs72927213	0.83[EUR][1000 genomes]
rs7928833	0.84[EUR][1000 genomes]
rs7930896	0.87[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7937146	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7942991	1.00[CHB][hapmap]
rs7943191	0.87[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv832180	chr11:62201605-62364828	Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription 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	1401 gene(s)	inside rSNPs	diseases
5	esv3584599	chr11:62262742-62398050	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS 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	156 gene(s)	inside rSNPs	diseases
6	esv1801128	chr11:62276347-62329897	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
7	esv1831183	chr11:62276347-62329897	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
8	nsv832182	chr11:62295575-62462848	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers 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	245 gene(s)	inside rSNPs	diseases
9	nsv347	chr11:62297068-62338927	Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62302400-62315400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:62307000-62313600	Flanking Active TSS	GM12878-XiMat	blood
3	chr11:62308000-62313200	Transcr. at gene 5' and 3'	NHLF	lung
4	chr11:62308200-62312800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:62308200-62313000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
6	chr11:62308200-62313200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:62308400-62313000	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:62308400-62313400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
9	chr11:62308600-62313200	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
10	chr11:62309000-62314000	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
11	chr11:62309600-62313200	Flanking Active TSS	Fetal Muscle Trunk	muscle
12	chr11:62309800-62313200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
13	chr11:62309800-62313400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr11:62309800-62315400	Active TSS	Aorta	Aorta
15	chr11:62310000-62312800	Flanking Active TSS	Primary B cells from peripheral blood	blood
16	chr11:62310000-62313000	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:62310000-62313000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:62310000-62313200	Flanking Active TSS	Placenta	Placenta
19	chr11:62310000-62313400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr11:62310000-62314200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr11:62310000-62314200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
22	chr11:62310200-62315200	Active TSS	Colon Smooth Muscle	Colon
23	chr11:62310400-62315000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:62310400-62315200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:62310400-62315200	Active TSS	Ovary	ovary
26	chr11:62311000-62312800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr11:62311000-62314800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:62311000-62315200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:62311000-62315200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:62311000-62315200	Active TSS	NHDF-Ad	bronchial
31	chr11:62311200-62312800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr11:62311200-62313600	Active TSS	Right Atrium	heart
33	chr11:62311200-62314800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr11:62311200-62314800	Active TSS	HMEC	breast
35	chr11:62311200-62314800	Active TSS	HSMMtube	muscle
36	chr11:62311200-62315200	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr11:62311200-62315200	Active TSS	HSMM	muscle
38	chr11:62311400-62312800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:62311400-62313000	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr11:62311400-62314600	Active TSS	NH-A	brain
41	chr11:62311400-62314600	Active TSS	Osteobl	bone
42	chr11:62311400-62314800	Active TSS	Placenta Amnion	Placenta Amnion
43	chr11:62311400-62314800	Active TSS	Stomach Mucosa	stomach
44	chr11:62311400-62315000	Active TSS	Esophagus	oesophagus
45	chr11:62311400-62315000	Active TSS	Left Ventricle	heart
46	chr11:62311400-62315000	Active TSS	A549	lung
47	chr11:62311400-62315200	Active TSS	NHEK	skin
48	chr11:62311600-62313000	Flanking Active TSS	Fetal Intestine Large	intestine
49	chr11:62311600-62313200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr11:62311600-62313200	Flanking Active TSS	K562	blood

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