Variant report

Variant	rs6743334
Chromosome Location	chr2:206431752-206431753
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10469758	0.83[AMR][1000 genomes]
rs10932117	0.83[AMR][1000 genomes]
rs11684023	1.00[AMR][1000 genomes]
rs12471061	0.83[AMR][1000 genomes]
rs1473084	1.00[AMR][1000 genomes]
rs1974688	1.00[AMR][1000 genomes]
rs1988085	1.00[AMR][1000 genomes]
rs2160383	1.00[AMR][1000 genomes]
rs2216109	0.83[AMR][1000 genomes]
rs2878751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4618031	1.00[AMR][1000 genomes]
rs4625893	1.00[AMR][1000 genomes]
rs4675533	0.83[AMR][1000 genomes]
rs4675534	1.00[AMR][1000 genomes]
rs6730102	1.00[AMR][1000 genomes]
rs6748169	0.82[AFR][1000 genomes]
rs7349394	1.00[AMR][1000 genomes]
rs738074	1.00[AMR][1000 genomes]
rs7594189	0.83[AMR][1000 genomes]
rs764150	1.00[AMR][1000 genomes]
rs9288368	1.00[AMR][1000 genomes]
rs975103	1.00[AMR][1000 genomes]
rs991689	1.00[AMR][1000 genomes]
rs9973667	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012780	chr2:206124954-206546271	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv10162	chr2:206272092-206525287	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv19770	chr2:206283097-206671319	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv2751840	chr2:206314671-206512921	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1007821	chr2:206333129-206465451	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv584245	chr2:206346410-206464465	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv1002333	chr2:206425470-206446775	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv519301	chr2:206425674-206445115	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv520393	chr2:206425674-206445115	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206405000-206446600	Weak transcription	Ovary	ovary
2	chr2:206405600-206435400	Weak transcription	Fetal Stomach	stomach
3	chr2:206405600-206445000	Weak transcription	HSMMtube	muscle
4	chr2:206411000-206439000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:206418600-206439000	Weak transcription	Pancreas	Pancrea
6	chr2:206422400-206464600	Weak transcription	Aorta	Aorta
7	chr2:206422600-206436000	Weak transcription	Fetal Muscle Leg	muscle
8	chr2:206430600-206434400	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:206431000-206431800	Enhancers	Placenta	Placenta
10	chr2:206431000-206441200	Weak transcription	Fetal Heart	heart
11	chr2:206431400-206431800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:206431400-206432600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:206431600-206431800	Enhancers	Placenta Amnion	Placenta Amnion
14	chr2:206431600-206432800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:206431600-206433000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:206431600-206433000	Weak transcription	NHEK	skin
17	chr2:206431600-206434000	Weak transcription	Esophagus	oesophagus

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