Variant report

Variant	rs6751138
Chromosome Location	chr2:48961641-48961642
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10176989	0.85[AMR][1000 genomes]
rs10209331	0.82[AMR][1000 genomes]
rs10495959	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11887058	0.80[AFR][1000 genomes]
rs11897846	0.96[YRI][hapmap]
rs13405728	0.87[CEU][hapmap]
rs13432488	1.00[CEU][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs4075876	0.91[AMR][1000 genomes]
rs4131885	0.89[YRI][hapmap]
rs4637174	0.93[CHB][hapmap];0.82[JPT][hapmap];0.92[ASN][1000 genomes]
rs4953618	0.85[YRI][hapmap];0.81[AFR][1000 genomes]
rs4953619	0.93[YRI][hapmap];0.87[AFR][1000 genomes]
rs4953620	0.83[AFR][1000 genomes]
rs6732721	1.00[CEU][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs7561945	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7562215	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7563126	1.00[CEU][hapmap]
rs7582603	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs7588339	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7594589	0.86[AMR][1000 genomes]
rs7595136	1.00[CEU][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.92[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	nsv1010494	chr2:48767055-49027310	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1002793	chr2:48771220-49466550	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1004965	chr2:48796170-49443587	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv535684	chr2:48796170-49443587	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv498119	chr2:48808834-49422647	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv833992	chr2:48814223-48998037	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv817851	chr2:48941428-48973127	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48959600-48961800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:48959600-48963200	Enhancers	Adipose Nuclei	Adipose
3	chr2:48959800-48961800	Enhancers	Fetal Kidney	kidney
4	chr2:48959800-48962400	Enhancers	Colon Smooth Muscle	Colon
5	chr2:48960000-48962000	Enhancers	Rectal Smooth Muscle	rectum
6	chr2:48960200-48962400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:48960400-48962800	Enhancers	Ovary	ovary
8	chr2:48960800-48961800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:48960800-48961800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:48960800-48962600	Enhancers	Stomach Smooth Muscle	stomach
11	chr2:48961200-48962200	Weak transcription	Fetal Stomach	stomach
12	chr2:48961400-48962200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:48961600-48963000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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