Variant report

Variant	rs233942
Chromosome Location	chr6:132320381-132320382
allele	C/T
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:26)

rs_ID	r²[population]
rs12199097	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs170881	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs173055	0.85[ASN][1000 genomes]
rs233907	0.82[ASN][1000 genomes]
rs233909	0.84[ASN][1000 genomes]
rs233910	0.84[ASN][1000 genomes]
rs233912	0.87[ASN][1000 genomes]
rs233914	0.84[ASN][1000 genomes]
rs233915	0.87[ASN][1000 genomes]
rs233916	0.87[ASN][1000 genomes]
rs233918	0.87[ASN][1000 genomes]
rs233920	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs233921	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs233922	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs233924	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs233926	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs233927	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs233933	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs233936	0.81[JPT][hapmap]
rs233939	0.83[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs233943	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs233945	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs403374	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs412319	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs440883	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs693712	0.82[ASN][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	nsv7968	chr6:131917172-132321099	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv470861	chr6:132291785-132351866	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv886672	chr6:132299748-132349215	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv886673	chr6:132299748-132363507	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv427768	chr6:132300468-132398477	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv970350	chr6:132317890-132327515	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv3329360	chr6:132320322-132320497	Enhancers Weak transcription	n/a	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	chr6:132303000-132320600	Weak transcription	Left Ventricle	heart
2	chr6:132304800-132320600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:132306200-132321400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr6:132317600-132324400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:132317800-132320600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:132318000-132320600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:132318600-132320800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:132318800-132320800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:132318800-132324800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:132319200-132320400	Enhancers	HepG2	liver
11	chr6:132319200-132320800	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr6:132319400-132321800	Enhancers	Fetal Heart	heart
13	chr6:132319600-132320800	Enhancers	HSMMtube	muscle
14	chr6:132319800-132320400	Enhancers	Brain Substantia Nigra	brain
15	chr6:132319800-132320600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:132319800-132320800	Enhancers	HSMM	muscle
17	chr6:132320000-132320800	Enhancers	Fetal Stomach	stomach
18	chr6:132320000-132321200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr6:132320000-132321800	Enhancers	Primary B cells from peripheral blood	blood
20	chr6:132320000-132321800	Weak transcription	Aorta	Aorta
21	chr6:132320000-132324400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr6:132320200-132321000	Weak transcription	NHDF-Ad	bronchial

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