Variant report

Variant	rs4473967
Chromosome Location	chr7:112207266-112207267
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1234346	1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs1234348	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1234350	0.85[EUR][1000 genomes]
rs1234351	0.90[CEU][hapmap];0.94[CHB][hapmap];0.80[JPT][hapmap];0.82[ASN][1000 genomes]
rs1234352	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1236840	0.91[ASN][1000 genomes]
rs1623536	0.92[ASN][1000 genomes]
rs1796502	0.88[CHB][hapmap];0.81[ASN][1000 genomes]
rs1971656	0.85[EUR][1000 genomes]
rs2079530	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2097672	0.85[ASN][1000 genomes]
rs2188547	0.85[ASN][1000 genomes]
rs2860402	0.85[ASN][1000 genomes]
rs28844	0.84[ASN][1000 genomes]
rs2905278	0.85[ASN][1000 genomes]
rs2905280	0.89[CHB][hapmap]
rs2952678	0.80[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap];0.84[ASN][1000 genomes]
rs2952687	0.80[CEU][hapmap];0.94[CHB][hapmap];0.80[JPT][hapmap]
rs2952688	0.80[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap]
rs3111438	0.93[ASN][1000 genomes]
rs3128399	0.93[ASN][1000 genomes]
rs4518580	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	nsv889055	chr7:112174089-112353440	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112205600-112207800	Enhancers	Fetal Heart	heart
2	chr7:112206200-112207400	Enhancers	Fetal Brain Male	brain
3	chr7:112206200-112207800	Enhancers	Brain Germinal Matrix	brain
4	chr7:112206400-112207400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr7:112206400-112207400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr7:112206400-112207400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
7	chr7:112206400-112207400	Active TSS	Osteobl	bone
8	chr7:112206400-112207600	Enhancers	Colon Smooth Muscle	Colon
9	chr7:112206400-112207800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:112206400-112207800	Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr7:112206600-112207400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:112206600-112207400	Active TSS	Psoas Muscle	Psoas
13	chr7:112206600-112207800	Enhancers	Small Intestine	intestine
14	chr7:112206800-112207400	Active TSS	Right Atrium	heart
15	chr7:112206800-112207400	Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr7:112206800-112207400	Enhancers	HMEC	breast
17	chr7:112207000-112207400	Active TSS	Fetal Brain Female	brain
18	chr7:112207000-112207400	Enhancers	Rectal Smooth Muscle	rectum
19	chr7:112207200-112207400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:112207200-112207400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr7:112207200-112207600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
22	chr7:112207200-112211200	Weak transcription	Fetal Intestine Large	intestine
23	chr7:112207200-112211200	Weak transcription	Fetal Intestine Small	intestine
24	chr7:112207200-112211600	Weak transcription	Duodenum Mucosa	Duodenum

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