Variant report

Variant	rs6720091
Chromosome Location	chr2:151452042-151452043
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10469691	0.89[ASN][1000 genomes]
rs10469692	0.86[ASN][1000 genomes]
rs10930161	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2340857	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];0.87[MKK][hapmap];0.88[TSI][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2340858	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2340859	0.80[EUR][1000 genomes]
rs2340864	0.82[MEX][hapmap]
rs34849534	0.87[ASN][1000 genomes]
rs4233661	0.82[YRI][hapmap];0.85[AMR][1000 genomes]
rs4355108	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs4438475	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6757157	0.89[ASN][1000 genomes]
rs7604619	0.91[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001838	chr2:150819672-151745876	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv535980	chr2:150819672-151745876	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv532473	chr2:151164210-151701860	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv834415	chr2:151374254-151558649	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	esv275419	chr2:151447063-151452042	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151444600-151452200	Weak transcription	NH-A	brain
2	chr2:151448000-151452600	Weak transcription	Fetal Brain Female	brain
3	chr2:151448400-151452200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:151448800-151452200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:151449000-151452200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:151449000-151452200	Weak transcription	NHLF	lung
7	chr2:151449000-151457600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:151449400-151455000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:151451400-151452600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:151451400-151453600	Enhancers	HSMM	muscle
11	chr2:151451400-151453800	Enhancers	HSMMtube	muscle
12	chr2:151451800-151452400	Enhancers	Osteobl	bone
13	chr2:151451800-151452600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:151451800-151453600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:151451800-151453600	Enhancers	NHDF-Ad	bronchial
16	chr2:151452000-151452200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:151452000-151453200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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