Variant report

Variant	rs11942725
Chromosome Location	chr4:75193638-75193639
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:75090793..75093494-chr4:75193558..75196089,2	K562	blood:
2	chr4:75193547..75202304-chr4:75225099..75233434,18	K562	blood:
3	chr4:75192786..75195576-chr4:75240334..75242838,2	K562	blood:
4	chr4:75193110..75194871-chr4:75595778..75598711,2	K562	blood:
5	chr4:75192691..75195126-chr4:75328844..75330528,2	K562	blood:
6	chr4:75192372..75204703-chr4:75227413..75239566,26	K562	blood:
7	chr4:75193289..75195375-chr4:75259120..75261620,2	K562	blood:

Variant related genes	Relation type
ENSG00000124882	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10010575	0.86[CEU][hapmap];0.91[EUR][1000 genomes]
rs10013212	0.84[EUR][1000 genomes]
rs10018373	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs10019396	0.84[EUR][1000 genomes]
rs10023519	0.81[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs10026687	0.82[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs1037824	0.81[EUR][1000 genomes]
rs10938112	0.84[EUR][1000 genomes]
rs1246594	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs16850883	0.80[CEU][hapmap];0.81[EUR][1000 genomes]
rs16850941	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17232394	0.88[EUR][1000 genomes]
rs17829765	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2045616	0.81[EUR][1000 genomes]
rs2045617	0.81[EUR][1000 genomes]
rs28378517	0.86[EUR][1000 genomes]
rs28436705	0.82[EUR][1000 genomes]
rs4502653	0.88[EUR][1000 genomes]
rs58813617	0.89[EUR][1000 genomes]
rs62312545	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6814880	0.81[EUR][1000 genomes]
rs6820992	0.81[EUR][1000 genomes]
rs6821664	0.81[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs6835734	0.81[EUR][1000 genomes]
rs6854723	0.81[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs715844	0.90[EUR][1000 genomes]
rs7663269	0.82[CEU][hapmap];0.87[EUR][1000 genomes]
rs7670535	0.87[EUR][1000 genomes]
rs7680463	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9997322	0.81[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9997788	0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][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	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1009099	chr4:75089233-75726206	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 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	chr4:75192800-75194200	Enhancers	Muscle Satellite Cultured Cells	--
2	chr4:75192800-75194600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:75192800-75194800	Enhancers	Brain Germinal Matrix	brain
4	chr4:75192800-75194800	Enhancers	HMEC	breast
5	chr4:75193000-75194000	Enhancers	Osteobl	bone
6	chr4:75193200-75193800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr4:75193200-75193800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:75193200-75193800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:75193200-75194000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr4:75193200-75194000	Enhancers	HSMM	muscle
11	chr4:75193200-75196800	Active TSS	K562	blood
12	chr4:75193400-75193800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:75193400-75193800	Enhancers	NH-A	brain
14	chr4:75193400-75194200	Flanking Active TSS	NHEK	skin
15	chr4:75193600-75193800	Enhancers	HUVEC	blood vessel
16	chr4:75193600-75194200	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr4:75193600-75194600	Enhancers	Primary monocytes fromperipheralblood	blood

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