Variant report

Variant	rs7605812
Chromosome Location	chr2:39816999-39817000
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39663393..39666071-chr2:39815774..39818204,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000011566	Chromatin interaction
ENSG00000231312	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4992380	0.83[EUR][1000 genomes]
rs6722571	0.80[EUR][1000 genomes]
rs7597939	0.88[ASN][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	nsv833858	chr2:39684483-39856498	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv961312	chr2:39810592-39817719	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39799600-39820800	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr2:39808400-39819000	Weak transcription	Liver	Liver
3	chr2:39809400-39821000	Weak transcription	Psoas Muscle	Psoas
4	chr2:39811200-39820600	Weak transcription	Left Ventricle	heart
5	chr2:39811600-39821000	Weak transcription	Brain Angular Gyrus	brain
6	chr2:39811800-39820800	Weak transcription	Brain Anterior Caudate	brain
7	chr2:39812000-39821000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr2:39812200-39821200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:39812400-39817200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:39812400-39822400	Weak transcription	HSMM	muscle
11	chr2:39812600-39820800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:39813000-39820800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:39814200-39820800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr2:39814800-39817200	Weak transcription	Gastric	stomach
15	chr2:39814800-39817400	Weak transcription	Fetal Intestine Large	intestine
16	chr2:39815400-39817200	Weak transcription	HSMMtube	muscle
17	chr2:39815400-39821000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:39815400-39821200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:39815600-39820800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:39815600-39820800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:39815800-39821000	Weak transcription	HepG2	liver
22	chr2:39815800-39833600	Weak transcription	Aorta	Aorta
23	chr2:39816800-39819400	Weak transcription	Ovary	ovary
24	chr2:39816800-39820400	Weak transcription	Placenta	Placenta

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