Variant report

Variant	rs833113
Chromosome Location	chr2:183238062-183238063
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10207047	0.86[AFR][1000 genomes]
rs13384332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13388594	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13421087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs711806	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs833114	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs833116	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs833147	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs833150	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs833151	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs833153	0.82[YRI][hapmap]
rs833154	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	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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183235000-183238200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr2:183235600-183243800	Weak transcription	Fetal Kidney	kidney
3	chr2:183236200-183238200	Enhancers	Osteobl	bone
4	chr2:183236400-183240200	Weak transcription	Fetal Stomach	stomach
5	chr2:183236600-183238200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:183236600-183238200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:183236600-183238200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:183236800-183238200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:183236800-183238800	Enhancers	HUVEC	blood vessel
10	chr2:183237000-183238200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:183237000-183238200	Flanking Active TSS	A549	lung
12	chr2:183237000-183238200	Enhancers	NHLF	lung
13	chr2:183237200-183238200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:183237200-183238200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:183237200-183238200	Enhancers	Rectal Smooth Muscle	rectum
16	chr2:183237200-183238200	Enhancers	Hela-S3	cervix
17	chr2:183237200-183238200	Enhancers	HMEC	breast
18	chr2:183237200-183238200	Enhancers	HSMM	muscle
19	chr2:183237200-183238200	Enhancers	NH-A	brain
20	chr2:183237400-183238200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:183237400-183238200	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr2:183237400-183238200	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr2:183237600-183238200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:183237600-183238200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:183237600-183238200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr2:183237600-183238200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:183237600-183238200	Enhancers	Aorta	Aorta
28	chr2:183237800-183238200	Enhancers	Esophagus	oesophagus
29	chr2:183237800-183238200	Enhancers	NHDF-Ad	bronchial
30	chr2:183237800-183238800	Enhancers	NHEK	skin
31	chr2:183238000-183238200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr2:183238000-183238400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:183238000-183243400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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