Variant report

Variant	rs10275495
Chromosome Location	chr7:14060957-14060958
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	chr7:14059044..14062154-chr7:14062708..14065783,4	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10251025	0.83[EUR][1000 genomes]
rs10254973	0.81[CEU][hapmap]
rs10268435	0.81[CEU][hapmap]
rs10271792	0.81[CEU][hapmap]
rs11973792	1.00[CEU][hapmap]
rs13438227	1.00[CEU][hapmap]
rs17167732	0.81[ASN][1000 genomes]
rs17167755	0.81[CEU][hapmap]
rs17167778	0.84[ASN][1000 genomes]
rs2190065	0.83[EUR][1000 genomes]
rs2190066	0.83[EUR][1000 genomes]
rs3888604	0.83[EUR][1000 genomes]
rs4308625	0.94[CEU][hapmap]
rs58567888	0.82[ASN][1000 genomes]
rs60718708	0.84[ASN][1000 genomes]
rs62452789	0.94[ASN][1000 genomes]
rs62452790	0.83[EUR][1000 genomes]
rs6969768	1.00[CEU][hapmap]
rs6970150	1.00[CEU][hapmap]
rs73057909	0.92[ASN][1000 genomes]
rs7785120	0.94[CEU][hapmap]
rs917136	0.94[CEU][hapmap]
rs9639172	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019873	chr7:13707148-14133367	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv949467	chr7:13938464-14279074	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1030645	chr7:14015533-14078153	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv538739	chr7:14015533-14078153	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14050200-14070800	Weak transcription	K562	blood
2	chr7:14059800-14061200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:14059800-14061800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:14060000-14061000	Enhancers	Muscle Satellite Cultured Cells	--
5	chr7:14060000-14061200	Enhancers	HMEC	breast
6	chr7:14060200-14061200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr7:14060200-14061200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:14060200-14061200	Enhancers	Osteobl	bone
9	chr7:14060200-14061400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:14060400-14061000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr7:14060400-14061000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:14060400-14061200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:14060400-14061200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr7:14060400-14061400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:14060400-14061400	Enhancers	NHEK	skin
16	chr7:14060600-14061200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr7:14060600-14061200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:14060600-14061400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:14060800-14061000	Enhancers	NH-A	brain
20	chr7:14060800-14061200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:14060800-14061200	Enhancers	HUES48 Cell Line	embryonic stem cell

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