Variant report

Variant	rs7764081
Chromosome Location	chr6:27517977-27517978
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27465146..27467709-chr6:27517525..27520048,3	K562	blood:
2	chr6:27516649..27519121-chr6:27558606..27561383,2	K562	blood:
3	chr6:27516133..27518259-chr6:27720231..27723733,3	K562	blood:
4	chr6:27113576..27116327-chr6:27516305..27519102,3	K562	blood:
5	chr6:27439345..27440952-chr6:27516433..27518989,2	K562	blood:
6	chr6:27517580..27520296-chr6:27658437..27660745,2	K562	blood:
7	chr6:27439212..27442698-chr6:27513989..27518332,5	K562	blood:
8	chr6:27514757..27519080-chr6:27534326..27537789,3	K562	blood:
9	chr6:27515165..27518892-chr6:27550748..27553909,3	K562	blood:
10	chr6:27516900..27519076-chr6:27523913..27526457,2	MCF-7	breast:
11	chr6:27516838..27518363-chr6:27758772..27760622,2	K562	blood:
12	chr6:27215954..27218971-chr6:27516754..27520868,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000197903	Chromatin interaction
ENSG00000096654	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000112812	Chromatin interaction
ENSG00000265565	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1022486	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10807026	0.91[ASN][1000 genomes]
rs10807029	0.80[ASN][1000 genomes]
rs10946932	0.80[YRI][hapmap]
rs10946935	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10946936	0.81[ASN][1000 genomes]
rs10946938	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10946940	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs12197514	0.81[ASN][1000 genomes]
rs12208078	0.81[ASN][1000 genomes]
rs12215012	0.82[ASN][1000 genomes]
rs13201411	0.81[ASN][1000 genomes]
rs2056924	0.86[JPT][hapmap]
rs2294480	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs2294481	0.94[CEU][hapmap];0.88[CHB][hapmap];0.95[JPT][hapmap]
rs4272217	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4713112	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4713113	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62401383	0.85[ASN][1000 genomes]
rs6456799	0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs67734963	0.98[ASN][1000 genomes]
rs6908295	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6915266	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6915987	0.87[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6916878	0.94[CEU][hapmap];0.96[CHB][hapmap];0.87[JPT][hapmap]
rs6921256	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs6933926	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6934437	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6934794	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7769662	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7774939	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7775817	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9348772	0.86[JPT][hapmap]
rs9380007	0.86[JPT][hapmap]
rs9393830	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs9393831	0.93[CEU][hapmap];0.86[JPT][hapmap]
rs9468156	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv830617	chr6:27424769-27598595	Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv462665	chr6:27458013-27547792	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv601203	chr6:27458013-27547792	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv1030256	chr6:27477726-27605842	Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv1025862	chr6:27480227-27605321	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv1017347	chr6:27483816-27605842	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv1025572	chr6:27487852-27604454	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv538167	chr6:27487852-27604454	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv883509	chr6:27492906-27586181	Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	nsv1018107	chr6:27503525-27596736	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
12	nsv538168	chr6:27503525-27596736	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 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	chr6:27513600-27520200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:27515600-27518000	Active TSS	K562	blood
3	chr6:27516600-27520000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:27516600-27520600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr6:27516800-27519800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr6:27516800-27519800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:27516800-27519800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr6:27516800-27519800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr6:27516800-27519800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr6:27516800-27519800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:27516800-27519800	Weak transcription	GM12878-XiMat	blood
12	chr6:27517000-27519800	Weak transcription	HMEC	breast
13	chr6:27517000-27520000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr6:27517000-27520000	Weak transcription	NHEK	skin
15	chr6:27517200-27519800	Weak transcription	HepG2	liver
16	chr6:27517200-27520000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:27517400-27519600	Weak transcription	A549	lung

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