Variant report

Variant	rs7123691
Chromosome Location	chr11:67010042-67010043
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	POLR2A	chr11:67009689-67011014	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:67009989-67010867	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:67009952-67010929	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:67006828..67010582-chr11:67138867..67142453,4	MCF-7	breast:
2	chr11:66884916..66890908-chr11:67005112..67010354,8	MCF-7	breast:
3	chr11:66820676..66825699-chr11:67004753..67010986,10	MCF-7	breast:
4	chr11:67008823..67011606-chr11:67168605..67170244,2	MCF-7	breast:

Variant related genes	Relation type
KDM2A	TF binding region
ENSG00000175505	Chromatin interaction
ENSG00000173156	Chromatin interaction
ENSG00000173120	Chromatin interaction
ENSG00000256514	Chromatin interaction
ENSG00000172531	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs10791901	1.00[AMR][1000 genomes]

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	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers 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	271 gene(s)	inside rSNPs	diseases
2	nsv532287	chr11:66784014-67023899	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67007200-67010200	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr11:67008400-67010200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr11:67008400-67012000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
4	chr11:67008600-67010400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:67009000-67010400	Active TSS	Brain Anterior Caudate	brain
6	chr11:67009000-67010600	Enhancers	Pancreas	Pancrea
7	chr11:67009000-67011400	Enhancers	Fetal Heart	heart
8	chr11:67009000-67012400	Weak transcription	Ovary	ovary
9	chr11:67009000-67012600	Weak transcription	Aorta	Aorta
10	chr11:67009200-67010200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:67009200-67010200	Weak transcription	Brain Substantia Nigra	brain
12	chr11:67009200-67010200	Enhancers	Left Ventricle	heart
13	chr11:67009200-67010200	Enhancers	Placenta Amnion	Placenta Amnion
14	chr11:67009200-67010400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:67009200-67010400	Enhancers	Fetal Brain Male	brain
16	chr11:67009200-67010400	Weak transcription	Thymus	Thymus
17	chr11:67009200-67010600	Enhancers	Brain Cingulate Gyrus	brain
18	chr11:67009200-67012600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:67009200-67012600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:67009200-67028800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr11:67009400-67010200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr11:67009400-67010200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr11:67009400-67010200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr11:67009400-67010200	Weak transcription	Lung	lung
25	chr11:67009400-67010200	Active TSS	Psoas Muscle	Psoas
26	chr11:67009400-67010200	Weak transcription	Small Intestine	intestine
27	chr11:67009400-67010400	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr11:67009400-67010600	Enhancers	Brain Hippocampus Middle	brain
29	chr11:67009400-67010600	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr11:67009400-67010800	Genic enhancers	Dnd41	blood
31	chr11:67009400-67011200	Weak transcription	Colonic Mucosa	Colon
32	chr11:67009400-67012000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:67009600-67010200	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:67009600-67010200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr11:67009600-67010200	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
36	chr11:67009600-67010200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:67009600-67010200	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr11:67009600-67010200	Weak transcription	Right Ventricle	heart
39	chr11:67009600-67010200	Flanking Active TSS	HepG2	liver
40	chr11:67009600-67010400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:67009600-67010400	Flanking Active TSS	Liver	Liver
42	chr11:67009600-67010400	Flanking Active TSS	HMEC	breast
43	chr11:67009600-67010600	Genic enhancers	Fetal Lung	lung
44	chr11:67009600-67010600	Transcr. at gene 5' and 3'	HSMM	muscle
45	chr11:67009600-67011600	Genic enhancers	Primary B cells from peripheral blood	blood
46	chr11:67009600-67025400	Strong transcription	Fetal Thymus	thymus
47	chr11:67009800-67010200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:67009800-67010200	Enhancers	Primary hematopoietic stem cells	blood
49	chr11:67009800-67010200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr11:67009800-67010200	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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