Variant report

Variant	rs753812
Chromosome Location	chr11:47431529-47431530
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	MAZ	chr11:47428435-47431694	IMR90	lung:	n/a	chr11:47430013-47430023 chr11:47428706-47428716
2	POLR2A	chr11:47429424-47431688	IMR90	lung:	n/a	n/a
3	HCFC1	chr11:47428525-47432352	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr11:47429454-47431598	ProgFib	skin:	n/a	n/a
5	CTCF	chr11:47429062-47431721	SK-N-SH	brain:	n/a	chr11:47430629-47430642 chr11:47431524-47431537 chr11:47429638-47429651
6	TFAP2A	chr11:47429542-47431562	Hela-S3	cervix:	n/a	chr11:47430241-47430253 chr11:47430244-47430252 chr11:47431384-47431398 chr11:47431386-47431396 chr11:47430244-47430252 chr11:47431386-47431396 chr11:47431384-47431398 chr11:47431386-47431396 chr11:47431386-47431401 chr11:47431384-47431398 chr11:47431386-47431396 chr11:47430838-47430848 chr11:47430244-47430252
7	MXI1	chr11:47429253-47431626	IMR90	lung:	n/a	n/a
8	TFAP2C	chr11:47429386-47431572	Hela-S3	cervix:	n/a	chr11:47430834-47430849 chr11:47431382-47431397
9	RAD21	chr11:47429057-47431606	SK-N-SH	brain:	n/a	chr11:47430513-47430527 chr11:47431326-47431340 chr11:47430618-47430637
10	CHD1	chr11:47428857-47432915	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:47411629..47418031-chr11:47425327..47431880,15	K562	blood:
2	chr11:47429691..47431699-chr11:47584830..47587245,2	MCF-7	breast:
3	chr11:47290389..47294105-chr11:47428413..47432863,5	MCF-7	breast:
4	chr11:47205613..47207687-chr11:47429461..47432184,2	K562	blood:
5	chr11:47394067..47402014-chr11:47426765..47432976,19	K562	blood:
6	chr11:47429268..47431582-chr20:56284094..56286955,2	MCF-7	breast:
7	chr11:47419914..47422605-chr11:47427478..47432259,7	K562	blood:
8	chr11:47269451..47271860-chr11:47428590..47432270,5	K562	blood:
9	chr11:47391440..47404809-chr11:47427075..47436409,23	K562	blood:
10	chr11:47427429..47429907-chr11:47430975..47433040,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255197	TF binding region
SLC39A13	TF binding region
ENSG00000110536	Chromatin interaction
ENSG00000066336	Chromatin interaction
ENSG00000256746	Chromatin interaction
ENSG00000165912	Chromatin interaction
ENSG00000165915	Chromatin interaction
ENSG00000255197	Chromatin interaction
ENSG00000134575	Chromatin interaction
ENSG00000264583	Chromatin interaction
ENSG00000149187	Chromatin interaction
ENSG00000110514	Chromatin interaction
ENSG00000124225	Chromatin interaction
ENSG00000213619	Chromatin interaction
ENSG00000025434	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1044269	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1051006	0.90[CEU][hapmap]
rs10742805	0.92[GIH][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs10742806	0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs10742816	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs10769253	0.90[CEU][hapmap]
rs10769255	1.00[CEU][hapmap]
rs10769267	0.83[ASN][1000 genomes]
rs10838686	0.90[CEU][hapmap]
rs10838689	0.90[CEU][hapmap]
rs11039194	0.83[EUR][1000 genomes]
rs11819955	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11820650	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11821273	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11821860	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11821917	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11822402	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11823490	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11824864	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11824971	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11824990	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11827106	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11828339	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12282783	0.82[ASN][1000 genomes]
rs12419342	0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs17198158	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17790804	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2138767	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.81[YRI][hapmap]
rs2242511	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2290146	0.81[CEU][hapmap]
rs2290148	0.90[CEU][hapmap]
rs3729802	1.00[CEU][hapmap]
rs3740684	0.92[GIH][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs3740685	0.83[ASN][1000 genomes]
rs3781628	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3824867	0.88[GIH][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs3847503	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4147730	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs4237544	0.92[GIH][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs4282946	0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs4384349	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4752783	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs4752786	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.81[YRI][hapmap]
rs4752829	0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs4752836	0.83[ASN][1000 genomes]
rs4752837	0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs4752839	1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4752843	0.85[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4752977	0.90[CEU][hapmap]
rs4752983	0.90[CEU][hapmap]
rs4752992	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56756748	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59631865	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60380053	0.84[ASN][1000 genomes]
rs60882887	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60929305	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61000762	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7101772	0.85[ASN][1000 genomes]
rs7104366	0.82[ASN][1000 genomes]
rs7105122	0.92[GIH][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs7105907	0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs7106142	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7107853	0.83[ASN][1000 genomes]
rs7108143	0.82[ASN][1000 genomes]
rs7111873	0.92[GIH][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs7117277	0.84[ASN][1000 genomes]
rs7119556	0.82[ASN][1000 genomes]
rs7124958	0.89[CEU][hapmap]
rs7126210	0.92[GIH][hapmap];0.94[JPT][hapmap]
rs7130693	0.84[ASN][1000 genomes]
rs753992	0.90[CEU][hapmap]
rs7948705	0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs9666924	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9734013	0.84[ASN][1000 genomes]
rs9919526	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription 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	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	esv3330173	chr11:47289256-47450681	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv3416377	chr11:47289276-47450651	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv825871	chr11:47376020-47457537	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers 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	39 gene(s)	inside rSNPs	diseases
7	nsv554210	chr11:47380593-47449544	Flanking Active TSS Enhancers Weak transcription Active TSS 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	38 gene(s)	inside rSNPs	diseases
8	nsv541034	chr11:47404083-47440081	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
9	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers 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	55 gene(s)	inside rSNPs	diseases
10	nsv1036011	chr11:47413060-47582279	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 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	chr11:47429400-47431600	Active TSS	Fetal Kidney	kidney
2	chr11:47429600-47431600	Active TSS	NHLF	lung
3	chr11:47430200-47431800	Flanking Active TSS	Colonic Mucosa	Colon
4	chr11:47430400-47431600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:47430400-47431600	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr11:47430400-47431600	Flanking Active TSS	Brain Anterior Caudate	brain
7	chr11:47430400-47431600	Flanking Active TSS	Fetal Brain Female	brain
8	chr11:47430400-47431600	Flanking Active TSS	Fetal Muscle Trunk	muscle
9	chr11:47430400-47431600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr11:47430400-47431600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr11:47430400-47431600	Flanking Active TSS	Dnd41	blood
12	chr11:47430400-47431600	Flanking Active TSS	HUVEC	blood vessel
13	chr11:47430400-47431800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:47430400-47431800	Flanking Active TSS	Placenta	Placenta
15	chr11:47430400-47431800	Flanking Active TSS	Hela-S3	cervix
16	chr11:47430400-47432000	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr11:47430600-47431600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr11:47430600-47431600	Flanking Active TSS	Rectal Smooth Muscle	rectum
19	chr11:47430600-47431800	Flanking Active TSS	Brain Angular Gyrus	brain
20	chr11:47430600-47431800	Flanking Active TSS	Fetal Muscle Leg	muscle
21	chr11:47430600-47432000	Flanking Active TSS	HMEC	breast
22	chr11:47430600-47432000	Flanking Active TSS	HSMMtube	muscle
23	chr11:47430600-47432000	Flanking Active TSS	Osteobl	bone
24	chr11:47430600-47432200	Flanking Active TSS	NH-A	brain
25	chr11:47430800-47431600	Enhancers	Primary B cells from peripheral blood	blood
26	chr11:47430800-47431600	Flanking Active TSS	Colon Smooth Muscle	Colon
27	chr11:47430800-47431600	Flanking Active TSS	Right Ventricle	heart
28	chr11:47430800-47431600	Enhancers	GM12878-XiMat	blood
29	chr11:47430800-47431800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr11:47430800-47431800	Enhancers	Spleen	Spleen
31	chr11:47430800-47431800	Flanking Active TSS	HepG2	liver
32	chr11:47430800-47432000	Enhancers	Gastric	stomach
33	chr11:47430800-47432200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr11:47430800-47432200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr11:47430800-47434200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:47430800-47434200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr11:47431000-47431600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr11:47431000-47431600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr11:47431000-47431600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr11:47431000-47431600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:47431000-47431600	Enhancers	K562	blood
42	chr11:47431000-47431800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:47431000-47432000	Enhancers	Fetal Intestine Large	intestine
44	chr11:47431000-47432200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr11:47431000-47432200	Enhancers	Fetal Heart	heart
46	chr11:47431000-47432200	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr11:47431000-47432200	Flanking Active TSS	NHDF-Ad	bronchial
48	chr11:47431000-47432400	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:47431000-47432400	Enhancers	Primary T cells fromperipheralblood	blood
50	chr11:47431000-47432400	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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