Variant report

Variant	rs6587100
Chromosome Location	chr17:20826189-20826190
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	chr17:20825547..20827539-chr17:20831716..20833822,2	K562	blood:

Variant related genes	Relation type
ENSG00000233098	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10445414	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11204323	0.81[CEU][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11653586	1.00[CEU][hapmap];0.85[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12450680	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4280307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4452013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6587101	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs66762238	0.81[ASN][1000 genomes]
rs7207876	0.86[EUR][1000 genomes]
rs7215428	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7222400	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7224181	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7501645	0.82[ASN][1000 genomes]
rs7501651	1.00[CEU][hapmap];0.86[ASN][1000 genomes]
rs8067705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8073343	0.80[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8075403	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8075712	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9709208	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9897888	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9902946	1.00[CEU][hapmap];0.86[JPT][hapmap];0.86[YRI][hapmap];0.86[ASN][1000 genomes]
rs9911380	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9912200	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9912643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916440	chr17:20171468-20839266	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv2751619	chr17:20462908-20914156	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv3361931	chr17:20539962-20845258	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv3330516	chr17:20572433-20862663	Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1064365	chr17:20801739-20890716	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv949097	chr17:20801739-21406355	Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
7	nsv574597	chr17:20802778-20872331	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv527161	chr17:20814766-20872331	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv457706	chr17:20814766-20872331	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv574598	chr17:20814766-20872331	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20812600-20830800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr17:20820200-20827800	Weak transcription	Right Atrium	heart
3	chr17:20820400-20827200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr17:20823200-20826600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr17:20823400-20826400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr17:20823400-20827600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr17:20823400-20831600	Weak transcription	Colon Smooth Muscle	Colon
8	chr17:20823400-20833600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr17:20824000-20826200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr17:20824400-20826200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr17:20824800-20826200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr17:20825000-20827800	Weak transcription	Ovary	ovary
13	chr17:20825600-20826200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr17:20825600-20826200	Enhancers	A549	lung
15	chr17:20825600-20826200	Enhancers	HMEC	breast
16	chr17:20825600-20826200	Enhancers	HSMM	muscle
17	chr17:20825600-20826400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr17:20825600-20826800	Flanking Active TSS	HSMMtube	muscle
19	chr17:20825800-20826200	Enhancers	HUVEC	blood vessel
20	chr17:20826000-20826200	Enhancers	NH-A	brain
21	chr17:20826000-20826200	Enhancers	Osteobl	bone
22	chr17:20826000-20826800	Enhancers	NHDF-Ad	bronchial
23	chr17:20826000-20827000	Enhancers	Hela-S3	cervix
24	chr17:20826000-20827800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr17:20826000-20829000	Weak transcription	NHLF	lung
26	chr17:20826000-20829200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr17:20826000-20830800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr17:20826000-20837800	Weak transcription	K562	blood

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