Variant report

Variant	rs7591672
Chromosome Location	chr2:190497586-190497587
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190304560..190306212-chr2:190497162..190499042,2	MCF-7	breast:
2	chr2:190443675..190446494-chr2:190495419..190499796,4	K562	blood:
3	chr2:190494740..190497603-chr2:190500641..190502959,2	K562	blood:

Variant related genes	Relation type
ENSG00000115368	Chromatin interaction
ENSG00000138449	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1225079	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1225080	1.00[ASN][1000 genomes]
rs1225081	1.00[ASN][1000 genomes]
rs1225084	1.00[ASN][1000 genomes]
rs1225085	1.00[ASN][1000 genomes]
rs1225088	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1225089	1.00[ASN][1000 genomes]
rs1225096	1.00[ASN][1000 genomes]
rs1225098	1.00[ASN][1000 genomes]
rs1225099	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1225107	1.00[CHB][hapmap]
rs1225109	1.00[CHB][hapmap]
rs1225110	1.00[CHB][hapmap]
rs1225112	1.00[ASN][1000 genomes]
rs1225116	1.00[ASN][1000 genomes]
rs1225120	1.00[CHB][hapmap]
rs1233277	1.00[CHB][hapmap]
rs1233287	1.00[CHB][hapmap]
rs1233296	1.00[CHB][hapmap]
rs1233300	1.00[CHB][hapmap]
rs1233303	1.00[CHB][hapmap]
rs1235156	1.00[ASN][1000 genomes]
rs13034572	1.00[ASN][1000 genomes]
rs1437880	1.00[CHB][hapmap]
rs16831812	0.82[AFR][1000 genomes]
rs16831859	1.00[CHB][hapmap]
rs16831861	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16831866	1.00[ASN][1000 genomes]
rs16831884	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16831894	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1866643	1.00[CHB][hapmap]
rs1899027	1.00[ASN][1000 genomes]
rs2118455	1.00[CHB][hapmap]
rs2164831	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2243894	1.00[ASN][1000 genomes]
rs2244190	1.00[ASN][1000 genomes]
rs2245742	1.00[ASN][1000 genomes]
rs2245753	1.00[ASN][1000 genomes]
rs2249907	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2252486	1.00[ASN][1000 genomes]
rs2252487	1.00[ASN][1000 genomes]
rs2254270	1.00[ASN][1000 genomes]
rs2255705	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2256718	1.00[ASN][1000 genomes]
rs2256719	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2262765	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2439185	1.00[ASN][1000 genomes]
rs3811622	1.00[CHB][hapmap]
rs6434364	1.00[CHB][hapmap]
rs6709840	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6725344	1.00[CHB][hapmap]
rs7606224	1.00[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190479000-190503800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:190494600-190498400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:190494800-190499200	Weak transcription	NHDF-Ad	bronchial
4	chr2:190497000-190497600	Enhancers	Rectal Smooth Muscle	rectum
5	chr2:190497000-190498800	Weak transcription	Osteobl	bone
6	chr2:190497200-190497800	Enhancers	Colon Smooth Muscle	Colon
7	chr2:190497400-190497600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:190497400-190497600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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