Variant report

Variant	rs7934320
Chromosome Location	chr11:85909249-85909250
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	GATA1	chr11:85907394-85909524	PBDE	blood:	n/a	chr11:85908503-85908513 chr11:85907557-85907573

No.	Distal block	Cell Line	Cell type
1	chr11:85908463..85910477-chr11:85912676..85914784,2	K562	blood:
2	chr11:85902463..85904724-chr11:85908007..85910447,3	K562	blood:
3	chr11:85908094..85909994-chr11:85921014..85923973,2	K562	blood:
4	chr11:85894603..85896311-chr11:85907931..85910681,2	K562	blood:

Variant related genes	Relation type
ENSG00000254699	TF binding region
ENSG00000254699	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10751135	1.00[CEU][hapmap]
rs10792836	1.00[CEU][hapmap]
rs11234604	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs11820048	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap]
rs11822824	0.85[CHB][hapmap];1.00[CHD][hapmap]
rs11823516	1.00[CHB][hapmap]
rs11825208	1.00[CHB][hapmap]
rs2167611	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs3758879	1.00[CHB][hapmap]
rs7106523	1.00[CEU][hapmap]
rs7115858	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs7924368	1.00[CEU][hapmap]
rs7931249	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs7951357	0.83[CHD][hapmap]
rs7951433	0.83[CHD][hapmap]
rs7951478	0.85[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050948	chr11:85756325-85968665	Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv541117	chr11:85756325-85968665	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv832223	chr11:85845315-86015957	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85898400-85913400	Weak transcription	Left Ventricle	heart
2	chr11:85904400-85913200	Weak transcription	Fetal Intestine Small	intestine
3	chr11:85905000-85912400	Weak transcription	HSMM	muscle
4	chr11:85905000-85913200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:85905000-85913200	Weak transcription	Placenta	Placenta
6	chr11:85905000-85913200	Weak transcription	Fetal Stomach	stomach
7	chr11:85905200-85910800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:85905200-85913200	Weak transcription	Stomach Mucosa	stomach
9	chr11:85905800-85911200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr11:85905800-85913200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr11:85906600-85909600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:85907000-85909600	Enhancers	Brain Hippocampus Middle	brain
13	chr11:85907200-85909400	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr11:85907200-85909600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr11:85907200-85909600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:85907400-85910800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:85907800-85911400	Weak transcription	Spleen	Spleen
18	chr11:85907800-85912400	Weak transcription	Fetal Kidney	kidney
19	chr11:85908000-85909400	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr11:85908000-85913400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr11:85908200-85910400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:85908200-85910800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr11:85908200-85911200	Enhancers	Hela-S3	cervix
24	chr11:85908200-85912400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr11:85908200-85913200	Weak transcription	Fetal Lung	lung
26	chr11:85908400-85910400	Weak transcription	Ovary	ovary
27	chr11:85908400-85910400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr11:85908400-85913200	Weak transcription	Osteobl	bone
29	chr11:85908600-85913000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:85908600-85913200	Weak transcription	Adipose Nuclei	Adipose
31	chr11:85908600-85913200	Weak transcription	Brain Angular Gyrus	brain
32	chr11:85908600-85920000	Weak transcription	Small Intestine	intestine
33	chr11:85908800-85910800	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr11:85908800-85912000	Weak transcription	Brain Substantia Nigra	brain
35	chr11:85908800-85912400	Weak transcription	Brain Anterior Caudate	brain
36	chr11:85908800-85912600	Weak transcription	NHEK	skin
37	chr11:85908800-85913000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:85909000-85909600	Enhancers	K562	blood
39	chr11:85909000-85911200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr11:85909000-85912400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr11:85909000-85912800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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