Variant report

Variant	rs6921299
Chromosome Location	chr6:131423233-131423234
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1919453	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2050731	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4895916	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4897501	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6901790	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6915845	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6923720	0.81[EUR][1000 genomes]
rs6927445	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6929143	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9388880	0.81[ASN][1000 genomes]
rs9398976	0.81[ASN][1000 genomes]
rs9483218	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9483219	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv830807	chr6:131390952-131581931	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1019112	chr6:131409284-131452300	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2761029	chr6:131413789-131452312	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1016925	chr6:131418532-131452300	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	1 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	chr6:131422200-131424000	Enhancers	Rectal Mucosa Donor 29	rectum
2	chr6:131422400-131423400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr6:131422400-131428000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr6:131422600-131423600	Enhancers	NH-A	brain
5	chr6:131422600-131424600	Enhancers	HUVEC	blood vessel
6	chr6:131423000-131423400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:131423000-131423600	Enhancers	HMEC	breast
8	chr6:131423000-131423600	Enhancers	NHEK	skin
9	chr6:131423000-131423800	Active TSS	A549	lung
10	chr6:131423000-131423800	Enhancers	HSMM	muscle
11	chr6:131423000-131424000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:131423000-131425400	Enhancers	Duodenum Mucosa	Duodenum
13	chr6:131423000-131425400	Enhancers	Osteobl	bone
14	chr6:131423000-131426000	Enhancers	Fetal Intestine Large	intestine
15	chr6:131423200-131423400	Enhancers	Fetal Intestine Small	intestine
16	chr6:131423200-131423600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:131423200-131424000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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

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