Variant report

Variant	rs12991078
Chromosome Location	chr2:62802407-62802408
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	chr2:62801914..62804670-chr2:62805943..62809053,3	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12987703	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12998264	0.86[EUR][1000 genomes]
rs35387085	0.91[EUR][1000 genomes]
rs35499742	1.00[YRI][hapmap]
rs360798	1.00[YRI][hapmap]
rs360802	1.00[YRI][hapmap]
rs6705692	0.91[EUR][1000 genomes]
rs6753095	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv535766	chr2:62177655-62929746	Bivalent/Poised TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv916190	chr2:62233785-63006200	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv932487	chr2:62258290-63006200	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv834226	chr2:62745027-62894013	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	esv3336776	chr2:62747914-62813461	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv874232	chr2:62758044-62906084	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv834237	chr2:62762743-62926036	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr2:62797800-62803400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:62798400-62803000	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:62798600-62803400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:62798600-62803400	Weak transcription	Right Atrium	heart
5	chr2:62798600-62803400	Weak transcription	HMEC	breast
6	chr2:62798600-62805200	Weak transcription	Brain Anterior Caudate	brain
7	chr2:62798600-62818400	Weak transcription	Esophagus	oesophagus
8	chr2:62798800-62802800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:62798800-62802800	Weak transcription	Adipose Nuclei	Adipose
10	chr2:62798800-62804600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:62800600-62803400	Weak transcription	Pancreas	Pancrea
12	chr2:62800600-62803600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:62800600-62803800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:62800600-62803800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:62800800-62803400	Weak transcription	NHEK	skin
16	chr2:62800800-62803800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr2:62800800-62804600	Weak transcription	NH-A	brain
18	chr2:62801000-62802800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:62801000-62802800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:62801000-62802800	Weak transcription	NHDF-Ad	bronchial
21	chr2:62801000-62803200	Weak transcription	NHLF	lung
22	chr2:62801000-62803400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:62801000-62803400	Weak transcription	Ovary	ovary
24	chr2:62801000-62804400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:62801400-62803400	ZNF genes & repeats	A549	lung
26	chr2:62801400-62806000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:62801600-62803400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr2:62801600-62803400	Weak transcription	Osteobl	bone
29	chr2:62801800-62803000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:62802400-62805000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:62802400-62807200	Enhancers	HepG2	liver

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