Variant report

Variant	rs13395789
Chromosome Location	chr2:182822089-182822090
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:182817451..182819237-chr2:182820797..182822943,2	MCF-7	breast:
2	chr2:182820077..182822937-chr2:182942227..182944128,2	MCF-7	breast:
3	chr2:182820183..182822975-chr2:182941873..182944115,2	MCF-7	breast:
4	chr2:182818243..182820551-chr2:182821644..182824450,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150722	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10181991	1.00[AMR][1000 genomes]
rs11887558	1.00[AMR][1000 genomes]
rs11890230	1.00[AMR][1000 genomes]
rs11894897	1.00[AMR][1000 genomes]
rs11896011	1.00[AMR][1000 genomes]
rs11898245	1.00[AMR][1000 genomes]
rs11903559	1.00[AMR][1000 genomes]
rs13384392	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13384479	1.00[AMR][1000 genomes]
rs13405727	1.00[AMR][1000 genomes]
rs13407143	1.00[AMR][1000 genomes]
rs13419020	1.00[AMR][1000 genomes]
rs16867501	1.00[AMR][1000 genomes]
rs73032631	1.00[AMR][1000 genomes]
rs73032655	1.00[AMR][1000 genomes]
rs73032661	1.00[AMR][1000 genomes]
rs73032669	1.00[AMR][1000 genomes]
rs73032673	1.00[AMR][1000 genomes]
rs73032699	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73038912	1.00[AMR][1000 genomes]
rs73038938	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv834478	chr2:182654811-182843201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv834479	chr2:182738483-182905444	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182819200-182822400	Weak transcription	Pancreas	Pancrea
2	chr2:182819200-182822600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr2:182819200-182822600	Weak transcription	Fetal Intestine Small	intestine
4	chr2:182819200-182828200	Weak transcription	Right Atrium	heart
5	chr2:182819400-182822400	Weak transcription	Fetal Intestine Large	intestine
6	chr2:182819400-182822800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:182819400-182823000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:182819600-182825800	Weak transcription	Fetal Heart	heart
9	chr2:182819800-182822400	Weak transcription	Small Intestine	intestine
10	chr2:182819800-182822800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:182819800-182822800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:182819800-182825200	Weak transcription	Fetal Stomach	stomach
13	chr2:182820000-182822400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:182820000-182822400	Weak transcription	NHLF	lung
15	chr2:182820200-182822200	Weak transcription	A549	lung
16	chr2:182820200-182824200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:182820400-182822400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:182820400-182822400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:182820400-182822400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:182820400-182822400	Weak transcription	Stomach Mucosa	stomach
21	chr2:182820400-182822400	Weak transcription	Thymus	Thymus
22	chr2:182820400-182822800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:182820400-182824000	Weak transcription	NH-A	brain
24	chr2:182820400-182824000	Weak transcription	NHEK	skin
25	chr2:182820400-182824400	Weak transcription	HMEC	breast
26	chr2:182820600-182822400	Weak transcription	NHDF-Ad	bronchial
27	chr2:182820600-182822600	Weak transcription	Hela-S3	cervix
28	chr2:182820600-182822800	Weak transcription	HUVEC	blood vessel
29	chr2:182820600-182823400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr2:182821800-182823200	Enhancers	Fetal Thymus	thymus
31	chr2:182822000-182823000	Enhancers	HepG2	liver

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