Variant report

Variant	rs10470914
Chromosome Location	chr4:119704744-119704745
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	chr4:119694188..119695693-chr4:119703708..119705888,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10011672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10014208	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10518322	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10518323	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10518324	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11098449	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11098450	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11730993	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11736024	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12505513	1.00[CHB][hapmap];0.84[JPT][hapmap];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12506295	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12506576	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12509236	0.83[CHB][hapmap];0.89[JPT][hapmap]
rs12649666	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13109947	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs13109966	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs13114964	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13120798	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs13128195	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17050423	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs34384498	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs34616305	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs34730066	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs35868882	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3775836	0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs4834699	0.83[CHB][hapmap];0.89[JPT][hapmap]
rs58450672	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67175714	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7676832	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs960738	0.83[CEU][hapmap];0.84[JPT][hapmap];0.82[AMR][1000 genomes]
rs960739	0.84[JPT][hapmap]
rs9997799	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[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	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv3355840	chr4:119296640-119774737	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119625800-119718000	Weak transcription	Hela-S3	cervix
2	chr4:119678600-119717400	Weak transcription	Esophagus	oesophagus
3	chr4:119679000-119717600	Weak transcription	Colonic Mucosa	Colon
4	chr4:119687600-119711800	Weak transcription	Stomach Mucosa	stomach
5	chr4:119688600-119705000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:119688600-119710000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr4:119688600-119712800	Weak transcription	Gastric	stomach
8	chr4:119688600-119715800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr4:119688600-119717400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr4:119688600-119717400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr4:119688600-119732600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:119688800-119716800	Weak transcription	Fetal Kidney	kidney
13	chr4:119689400-119709000	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr4:119689400-119716200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr4:119689400-119716600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr4:119689400-119716800	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr4:119689600-119709400	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr4:119689600-119717600	Weak transcription	K562	blood
19	chr4:119689800-119708800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr4:119690000-119717600	Weak transcription	Primary T cells from cord blood	blood
21	chr4:119694000-119715000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr4:119694000-119717400	Weak transcription	Ovary	ovary
23	chr4:119694400-119716600	Weak transcription	Aorta	Aorta
24	chr4:119695000-119710000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr4:119695000-119717600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr4:119696400-119715600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr4:119696800-119717400	Weak transcription	Spleen	Spleen
28	chr4:119698000-119706800	Weak transcription	HUVEC	blood vessel
29	chr4:119698000-119709400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr4:119698200-119712200	Weak transcription	Adipose Nuclei	Adipose
31	chr4:119702200-119705000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:119702400-119706000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr4:119702600-119705000	Strong transcription	Fetal Muscle Leg	muscle
34	chr4:119702600-119705200	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr4:119702600-119705400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr4:119702600-119717600	Weak transcription	Fetal Brain Male	brain
37	chr4:119702800-119704800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:119703000-119705000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:119703000-119705000	Strong transcription	Osteobl	bone
40	chr4:119703000-119705200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr4:119703000-119705200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr4:119703000-119705200	Strong transcription	Fetal Muscle Trunk	muscle
43	chr4:119703000-119705600	Strong transcription	Duodenum Mucosa	Duodenum
44	chr4:119703000-119711000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:119703200-119705000	Strong transcription	Left Ventricle	heart
46	chr4:119703200-119705200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr4:119703200-119705800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr4:119703400-119705200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
49	chr4:119703400-119705200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr4:119703400-119705200	Strong transcription	HepG2	liver

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