Variant report

Variant	rs7585679
Chromosome Location	chr2:11517511-11517512
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11508308..11513224-chr2:11514143..11518077,7	MCF-7	breast:
2	chr2:11514491..11518486-chr2:11518719..11524773,5	K562	blood:
3	chr2:11516205..11518065-chr2:11518508..11520842,3	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs4497845	1.00[EUR][1000 genomes]
rs6714757	1.00[EUR][1000 genomes]
rs6744190	1.00[EUR][1000 genomes]
rs73177264	1.00[AMR][1000 genomes]
rs73177266	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73177268	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73177271	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73177275	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7576515	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7594466	1.00[EUR][1000 genomes]
rs7596720	1.00[EUR][1000 genomes]
rs7598990	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11512200-11518400	Enhancers	Fetal Intestine Small	intestine
2	chr2:11513200-11518200	Enhancers	Fetal Lung	lung
3	chr2:11513800-11517600	Enhancers	Placenta	Placenta
4	chr2:11514800-11518000	Weak transcription	Primary B cells from cord blood	blood
5	chr2:11514800-11519200	Enhancers	Fetal Intestine Large	intestine
6	chr2:11515000-11518400	Weak transcription	K562	blood
7	chr2:11515200-11518200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:11515200-11518200	Weak transcription	Brain Angular Gyrus	brain
9	chr2:11515200-11518400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:11515200-11519000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:11515400-11518000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:11515400-11518200	Weak transcription	Brain Hippocampus Middle	brain
13	chr2:11515400-11518400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:11515400-11518600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:11515400-11520000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr2:11515400-11526000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:11515600-11517600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr2:11515600-11518000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:11515600-11518000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:11515600-11518200	Weak transcription	Right Ventricle	heart
21	chr2:11515600-11518200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr2:11515600-11519200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:11515600-11519400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:11515600-11520000	Weak transcription	Liver	Liver
25	chr2:11515800-11517800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr2:11515800-11518200	Weak transcription	HSMM	muscle
27	chr2:11515800-11518400	Weak transcription	Osteobl	bone
28	chr2:11515800-11519200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:11515800-11519400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:11515800-11519400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:11515800-11519600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:11515800-11519600	Weak transcription	NHEK	skin
33	chr2:11515800-11520000	Weak transcription	Fetal Heart	heart
34	chr2:11516000-11518200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:11516000-11518200	Weak transcription	Brain Anterior Caudate	brain
36	chr2:11516000-11518200	Weak transcription	Right Atrium	heart
37	chr2:11516000-11518600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr2:11516000-11526000	Weak transcription	Aorta	Aorta
39	chr2:11516200-11517600	Weak transcription	Fetal Stomach	stomach
40	chr2:11516200-11518000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr2:11516200-11518200	Weak transcription	Adipose Nuclei	Adipose
42	chr2:11516200-11518200	Weak transcription	Colonic Mucosa	Colon
43	chr2:11516200-11518200	Weak transcription	Duodenum Mucosa	Duodenum
44	chr2:11516200-11518200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr2:11516200-11518200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr2:11516200-11518200	Weak transcription	HSMMtube	muscle
47	chr2:11516200-11518600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:11516200-11518600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:11516200-11518600	Weak transcription	Small Intestine	intestine
50	chr2:11516200-11519000	Weak transcription	Rectal Mucosa Donor 31	rectum

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