Variant report

Variant	rs12291164
Chromosome Location	chr11:73051877-73051878
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	ZNF263	chr11:73051344-73052306	HEK293-T-REx	kidney:	n/a	chr11:73052055-73052064 chr11:73051922-73051931

No.	Distal block	Cell Line	Cell type
1	chr11:73045859..73047367-chr11:73050454..73052611,2	MCF-7	breast:
2	chr11:73051469..73053504-chr11:73055523..73058425,3	MCF-7	breast:
3	chr11:73050857..73052738-chr11:73086451..73088096,2	MCF-7	breast:
4	chr11:73051769..73054322-chr11:73072717..73075301,2	MCF-7	breast:
5	chr11:72999041..73001772-chr11:73050425..73052221,2	K562	blood:
6	chr11:73051653..73053765-chr11:73094533..73097113,2	MCF-7	breast:

Variant related genes	Relation type
ARHGEF17	TF binding region
ENSG00000054967	Chromatin interaction
ENSG00000171631	Chromatin interaction
ENSG00000110237	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1107037	0.81[AFR][1000 genomes]
rs1107038	0.81[AFR][1000 genomes]
rs11826797	0.86[AFR][1000 genomes]
rs12280876	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12284174	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12284575	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12290082	0.81[AFR][1000 genomes]
rs12293779	0.81[AFR][1000 genomes]
rs1938776	0.86[AFR][1000 genomes]
rs2017066	0.86[AFR][1000 genomes]
rs28719552	1.00[EUR][1000 genomes]
rs3933402	1.00[EUR][1000 genomes]
rs55664562	0.83[AFR][1000 genomes]
rs55851019	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56184513	0.83[AFR][1000 genomes]
rs56334857	0.81[AFR][1000 genomes]
rs56665358	0.83[AFR][1000 genomes]
rs56775065	0.81[AFR][1000 genomes]
rs58053874	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58460917	1.00[EUR][1000 genomes]
rs58965711	1.00[EUR][1000 genomes]
rs58995758	1.00[EUR][1000 genomes]
rs59127043	0.83[AFR][1000 genomes]
rs59268601	1.00[EUR][1000 genomes]
rs59271755	1.00[EUR][1000 genomes]
rs59804106	1.00[EUR][1000 genomes]
rs60206663	1.00[EUR][1000 genomes]
rs60610185	1.00[EUR][1000 genomes]
rs60779105	1.00[EUR][1000 genomes]
rs61086238	1.00[EUR][1000 genomes]
rs61122124	1.00[EUR][1000 genomes]
rs61400770	1.00[EUR][1000 genomes]
rs61654355	1.00[EUR][1000 genomes]
rs7111021	1.00[EUR][1000 genomes]
rs7119632	1.00[EUR][1000 genomes]
rs7119975	1.00[EUR][1000 genomes]
rs7122979	1.00[EUR][1000 genomes]
rs7123114	1.00[EUR][1000 genomes]
rs7123218	1.00[EUR][1000 genomes]
rs7127143	1.00[EUR][1000 genomes]
rs7127412	1.00[EUR][1000 genomes]
rs73542448	0.83[AFR][1000 genomes]
rs73542460	0.82[AFR][1000 genomes]
rs874456	0.86[AFR][1000 genomes]
rs947836	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv520665	chr11:72999221-73061856	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv825993	chr11:73029209-73091929	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS 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	29 gene(s)	inside rSNPs	diseases
5	nsv897911	chr11:73044351-73108276	Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73044800-73053000	Weak transcription	Aorta	Aorta
2	chr11:73045800-73053400	Weak transcription	Pancreas	Pancrea
3	chr11:73046400-73052800	Weak transcription	Brain Germinal Matrix	brain
4	chr11:73046400-73052800	Weak transcription	Lung	lung
5	chr11:73046400-73053000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:73046400-73053200	Weak transcription	Gastric	stomach
7	chr11:73046400-73053400	Weak transcription	Brain Substantia Nigra	brain
8	chr11:73046600-73053000	Weak transcription	Right Atrium	heart
9	chr11:73046600-73053400	Weak transcription	Colonic Mucosa	Colon
10	chr11:73046600-73053400	Weak transcription	Fetal Brain Male	brain
11	chr11:73046600-73058600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr11:73046600-73058800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:73046600-73061600	Weak transcription	Primary B cells from cord blood	blood
14	chr11:73046600-73075400	Weak transcription	A549	lung
15	chr11:73046800-73053400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:73047000-73052800	Weak transcription	Liver	Liver
17	chr11:73047000-73053000	Strong transcription	Fetal Stomach	stomach
18	chr11:73047000-73053200	Weak transcription	Fetal Brain Female	brain
19	chr11:73047000-73053200	Strong transcription	Fetal Intestine Small	intestine
20	chr11:73047000-73053200	Weak transcription	HSMM	muscle
21	chr11:73047000-73053400	Weak transcription	Fetal Kidney	kidney
22	chr11:73047000-73053600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr11:73047000-73053600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr11:73047000-73054600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:73047200-73052000	Weak transcription	Hela-S3	cervix
26	chr11:73047200-73052600	Weak transcription	Fetal Heart	heart
27	chr11:73047200-73053400	Weak transcription	Fetal Lung	lung
28	chr11:73047200-73053400	Weak transcription	HUVEC	blood vessel
29	chr11:73047200-73053600	Weak transcription	NH-A	brain
30	chr11:73047400-73058400	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr11:73048000-73052600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr11:73048000-73052800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:73049000-73052000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:73049000-73053400	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr11:73049000-73054600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:73049200-73053400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr11:73049200-73053400	Weak transcription	Fetal Intestine Large	intestine
38	chr11:73049400-73052000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:73049400-73054600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:73049600-73053000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:73049600-73053200	Weak transcription	Adipose Nuclei	Adipose
42	chr11:73049800-73053400	Weak transcription	Ovary	ovary
43	chr11:73050000-73053000	Weak transcription	Fetal Muscle Leg	muscle
44	chr11:73050600-73052000	Enhancers	Right Ventricle	heart
45	chr11:73050600-73053400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:73050600-73053600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr11:73050800-73052000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr11:73051000-73052000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
49	chr11:73051000-73052000	Enhancers	NHDF-Ad	bronchial
50	chr11:73051000-73052200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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