Variant report

Variant	rs4256302
Chromosome Location	chr5:60593896-60593897
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:60593618..60596553-chr5:60596973..60598822,2	K562	blood:
2	chr5:60457666..60459255-chr5:60593266..60595068,2	MCF-7	breast:
3	chr5:60591185..60593919-chr5:60603774..60605452,2	K562	blood:

Variant related genes	Relation type
ENSG00000188725	Chromatin interaction
ENSG00000251279	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10044518	1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.90[ASN][1000 genomes]
rs10044575	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12188621	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12188882	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs159373	1.00[JPT][hapmap]
rs28685817	1.00[ASN][1000 genomes]
rs295523	1.00[JPT][hapmap]
rs295525	1.00[JPT][hapmap]
rs295526	1.00[JPT][hapmap]
rs295529	1.00[JPT][hapmap]
rs295530	1.00[JPT][hapmap]
rs295568	1.00[JPT][hapmap]
rs295580	1.00[JPT][hapmap]
rs298624	1.00[JPT][hapmap]
rs298626	1.00[JPT][hapmap]
rs298627	1.00[JPT][hapmap]
rs298628	1.00[JPT][hapmap]
rs298630	1.00[JPT][hapmap]
rs298631	1.00[JPT][hapmap]
rs4382119	1.00[ASN][1000 genomes]
rs4452517	1.00[ASN][1000 genomes]
rs498497	1.00[JPT][hapmap]
rs557092	1.00[JPT][hapmap]
rs59628996	1.00[ASN][1000 genomes]
rs603018	1.00[JPT][hapmap]
rs73105361	1.00[ASN][1000 genomes]
rs73105363	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034038	chr5:60375328-60607654	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv823089	chr5:60589501-60669903	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60573400-60594800	Weak transcription	Right Atrium	heart
2	chr5:60587000-60594000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:60587000-60594600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:60587000-60595200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:60587000-60597400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:60587200-60594000	Weak transcription	NHDF-Ad	bronchial
7	chr5:60587200-60595000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:60587200-60597200	Weak transcription	Brain Hippocampus Middle	brain
9	chr5:60587200-60597400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr5:60587400-60594200	Weak transcription	Osteobl	bone
11	chr5:60587400-60594400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:60587400-60594600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr5:60587400-60595200	Weak transcription	HSMM	muscle
14	chr5:60589200-60594000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:60589200-60594000	Weak transcription	NHEK	skin
16	chr5:60589200-60594400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:60589200-60594600	Weak transcription	Esophagus	oesophagus
18	chr5:60589200-60594600	Weak transcription	Lung	lung
19	chr5:60589200-60597200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr5:60589400-60594000	Weak transcription	Pancreas	Pancrea
21	chr5:60589400-60597000	Weak transcription	Fetal Intestine Large	intestine
22	chr5:60589400-60597400	Weak transcription	Brain Anterior Caudate	brain
23	chr5:60589600-60594000	Weak transcription	Stomach Mucosa	stomach
24	chr5:60591000-60594000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr5:60591800-60597400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:60592800-60594200	Weak transcription	NHLF	lung
27	chr5:60593000-60594000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:60593000-60594600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr5:60593400-60595600	Enhancers	HUVEC	blood vessel
30	chr5:60593600-60594800	Weak transcription	Gastric	stomach
31	chr5:60593800-60594200	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr5:60593800-60597200	Enhancers	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links