Variant report

Variant	rs6747943
Chromosome Location	chr2:183235848-183235849
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10197295	0.83[EUR][1000 genomes]
rs10803955	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931009	0.84[AFR][1000 genomes]
rs12475637	0.83[AFR][1000 genomes]
rs2164861	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2195611	0.82[EUR][1000 genomes]
rs833115	0.85[EUR][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	nsv583913	chr2:183043563-183243313	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv533782	chr2:183059730-183500040	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv834481	chr2:183189758-183339577	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183225600-183237400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:183226400-183237200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr2:183226600-183236800	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:183229200-183237400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:183234000-183236800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:183234000-183237200	Weak transcription	Hela-S3	cervix
7	chr2:183234000-183237600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:183234000-183237600	Weak transcription	Aorta	Aorta
9	chr2:183234200-183236800	Weak transcription	NHEK	skin
10	chr2:183234400-183236600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:183234600-183237400	Weak transcription	Stomach Mucosa	stomach
12	chr2:183235000-183237200	Enhancers	NHDF-Ad	bronchial
13	chr2:183235000-183237400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr2:183235000-183238200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:183235200-183236200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:183235400-183237000	Weak transcription	NHLF	lung
17	chr2:183235400-183237200	Weak transcription	NH-A	brain
18	chr2:183235600-183236600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:183235600-183237000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:183235600-183237400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr2:183235600-183243800	Weak transcription	Fetal Kidney	kidney
22	chr2:183235800-183236200	Weak transcription	Fetal Stomach	stomach
23	chr2:183235800-183237000	Weak transcription	A549	lung

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