Variant report

Variant	rs9402382
Chromosome Location	chr6:132317585-132317586
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	6:132269655-132282174..6:132317180-132317980	H1-hESC	embryonic stem cell:	embryo
2	6:132317180-132317980..6:132641847-132646256	K562	blood:
3	6:132317180-132317980..6:132646256-132647474	K562	blood:
4	chr6:132316653..132319485-chr6:132330291..132332319,2	K562	blood:

Variant related genes	Relation type
ENSG00000079931	Chromatin interaction
ENSG00000118523	Chromatin interaction
ENSG00000227220	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1011555	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11154656	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12193041	0.90[ASN][1000 genomes]
rs12202729	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12212906	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12214274	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12214663	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12214716	0.91[ASN][1000 genomes]
rs2022390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2022391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs233928	0.90[ASN][1000 genomes]
rs233929	0.90[ASN][1000 genomes]
rs233930	0.85[ASN][1000 genomes]
rs233931	0.85[ASN][1000 genomes]
rs233932	0.85[ASN][1000 genomes]
rs4452668	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs576718	0.85[ASN][1000 genomes]
rs7356961	0.83[ASN][1000 genomes]
rs7357002	0.90[ASN][1000 genomes]
rs7742135	0.90[ASN][1000 genomes]
rs9373005	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9373006	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9373007	0.90[ASN][1000 genomes]
rs9375854	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9385593	0.96[AFR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9388957	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9399006	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9399007	0.84[ASN][1000 genomes]
rs9402380	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9402381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9402383	0.93[ASN][1000 genomes]
rs9483372	0.90[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	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

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132298200-132319000	Weak transcription	Aorta	Aorta
2	chr6:132303000-132320600	Weak transcription	Left Ventricle	heart
3	chr6:132304800-132320600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:132306200-132319800	Weak transcription	HSMM	muscle
5	chr6:132306200-132321400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr6:132316200-132318200	Enhancers	HMEC	breast
7	chr6:132316400-132318000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:132316400-132318200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr6:132316600-132318200	Enhancers	HUVEC	blood vessel
10	chr6:132316800-132317600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:132316800-132317600	Enhancers	NHLF	lung
12	chr6:132316800-132317800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:132316800-132317800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:132316800-132317800	Enhancers	A549	lung
15	chr6:132316800-132318000	Enhancers	NH-A	brain
16	chr6:132316800-132318000	Enhancers	Osteobl	bone
17	chr6:132316800-132318200	Enhancers	NHEK	skin
18	chr6:132317000-132318200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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