Variant report

Variant	rs6709846
Chromosome Location	chr2:62816885-62816886
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:62815568..62818395-chr2:62989644..62992050,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1487072	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1487073	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1527964	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57287620	1.00[AMR][1000 genomes]
rs58276014	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61210193	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61356682	1.00[AMR][1000 genomes]
rs6708962	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6709285	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6732313	1.00[AMR][1000 genomes]
rs6732451	1.00[AMR][1000 genomes]
rs9751158	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
7	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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:62798600-62818400	Weak transcription	Esophagus	oesophagus
2	chr2:62813400-62819400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:62813600-62819200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:62814200-62818000	Enhancers	HepG2	liver
5	chr2:62814600-62818400	Enhancers	Brain Substantia Nigra	brain
6	chr2:62814800-62817800	Enhancers	Brain Cingulate Gyrus	brain
7	chr2:62815000-62822600	Weak transcription	NHLF	lung
8	chr2:62815200-62817000	Weak transcription	HSMMtube	muscle
9	chr2:62815200-62817200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:62815200-62822400	Weak transcription	Fetal Stomach	stomach
11	chr2:62815200-62822600	Weak transcription	NH-A	brain
12	chr2:62815400-62823000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:62815600-62818000	Enhancers	Ovary	ovary
14	chr2:62816000-62817200	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr2:62816000-62817400	Enhancers	Brain Germinal Matrix	brain
16	chr2:62816200-62817000	Enhancers	H9 Cell Line	embryonic stem cell
17	chr2:62816200-62817000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:62816200-62817200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr2:62816200-62817400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr2:62816200-62817600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:62816200-62817600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr2:62816200-62817600	Enhancers	Brain Anterior Caudate	brain
23	chr2:62816200-62817600	Enhancers	NHDF-Ad	bronchial
24	chr2:62816200-62817800	Enhancers	Brain Hippocampus Middle	brain
25	chr2:62816400-62817000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr2:62816400-62817400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:62816400-62817400	Enhancers	Osteobl	bone
28	chr2:62816400-62818400	Enhancers	Rectal Smooth Muscle	rectum
29	chr2:62816600-62817000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr2:62816600-62817000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:62816600-62817000	Weak transcription	Brain Angular Gyrus	brain
32	chr2:62816800-62817200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:62816800-62817200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr2:62816800-62817400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:62816800-62817600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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