Variant report

Variant	rs67756954
Chromosome Location	chr2:36960325-36960326
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:36959452..36962419-chr2:36962892..36964794,2	K562	blood:

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

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

rs_ID	r²[population]
rs1015696	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10201689	0.92[ASN][1000 genomes]
rs13397655	0.97[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs13398046	0.93[AFR][1000 genomes]
rs13423449	0.96[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs13423458	0.99[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs17019636	0.96[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs17019638	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17019641	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs66497336	0.94[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs66773952	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72783168	0.90[EUR][1000 genomes]
rs7572548	0.97[AMR][1000 genomes];0.99[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	nsv1007757	chr2:36838387-37011384	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv535643	chr2:36838387-37011384	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	esv2762493	chr2:36958342-36965718	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv525132	chr2:36959486-36964751	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36942600-36968800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:36958000-36962000	Enhancers	Hela-S3	cervix
3	chr2:36958000-36968200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:36958000-36970800	Weak transcription	Ovary	ovary
5	chr2:36958200-36960600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:36958200-36963600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:36958800-36961000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:36958800-36961000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:36958800-36961600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:36959000-36960400	Enhancers	Placenta	Placenta
11	chr2:36959000-36960400	Enhancers	Fetal Stomach	stomach
12	chr2:36959600-36960400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:36959600-36960600	Enhancers	Fetal Muscle Leg	muscle
14	chr2:36959800-36960400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr2:36960000-36961000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr2:36960000-36961200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr2:36960000-36961400	Weak transcription	Osteobl	bone
18	chr2:36960200-36960400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:36960200-36960600	Enhancers	H1 Cell Line	embryonic stem cell
20	chr2:36960200-36960800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr2:36960200-36961200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr2:36960200-36980400	Weak transcription	NHDF-Ad	bronchial

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