Variant report

Variant	rs6464067
Chromosome Location	chr7:150174079-150174080
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150172387..150174291-chr7:150178480..150181498,3	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1113485	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11769211	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1608627	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2140595	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2373748	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2373749	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56693569	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58111571	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59777480	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60114833	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61342202	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6947973	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6969414	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73155823	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73155829	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034409	chr7:149844639-150447071	Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1015582	chr7:149967986-150285104	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	nsv1025129	chr7:150146593-150266217	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1031309	chr7:150171651-150222230	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6464067	GIMAP8	cis	Adipose Subcutaneous	GTEx
rs6464067	GIMAP8	Cis_1M	lymphoblastoid	RTeQTL
rs6464067	GIMAP8	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150158400-150174200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:150161200-150175200	Weak transcription	Small Intestine	intestine
3	chr7:150161200-150178400	Weak transcription	Esophagus	oesophagus
4	chr7:150162200-150176600	Weak transcription	Colonic Mucosa	Colon
5	chr7:150163600-150176600	Weak transcription	Primary B cells from cord blood	blood
6	chr7:150164200-150175400	Weak transcription	Gastric	stomach
7	chr7:150164400-150178000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr7:150165600-150175000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
9	chr7:150165600-150176600	Weak transcription	Fetal Intestine Small	intestine
10	chr7:150165600-150179200	Weak transcription	Brain Hippocampus Middle	brain
11	chr7:150166400-150176600	Weak transcription	Fetal Thymus	thymus
12	chr7:150166600-150175200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr7:150166600-150175400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr7:150166600-150178800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr7:150166600-150179200	Weak transcription	Fetal Muscle Leg	muscle
16	chr7:150167800-150176200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr7:150168000-150175200	Strong transcription	HUVEC	blood vessel
18	chr7:150168000-150177400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:150168200-150174800	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr7:150168400-150174200	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr7:150168600-150176800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:150169600-150175200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr7:150169600-150176800	Weak transcription	Liver	Liver
24	chr7:150169600-150177600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr7:150171200-150175200	Weak transcription	Adipose Nuclei	Adipose
26	chr7:150171400-150175200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr7:150171800-150174200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr7:150172200-150175200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
29	chr7:150172600-150175200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr7:150172600-150175400	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr7:150172800-150174200	Enhancers	HMEC	breast
32	chr7:150172800-150174400	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr7:150172800-150174400	Genic enhancers	Right Ventricle	heart
34	chr7:150172800-150174600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr7:150172800-150178000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr7:150172800-150178600	Weak transcription	GM12878-XiMat	blood
37	chr7:150173200-150174200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr7:150173600-150174600	Strong transcription	Primary hematopoietic stem cells	blood
39	chr7:150173600-150175200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr7:150173600-150175800	Genic enhancers	Primary T cells fromperipheralblood	blood
41	chr7:150173800-150174400	Enhancers	Right Atrium	heart
42	chr7:150173800-150174400	Genic enhancers	Spleen	Spleen
43	chr7:150173800-150175400	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
44	chr7:150173800-150175400	Genic enhancers	Left Ventricle	heart
45	chr7:150173800-150175400	Genic enhancers	Lung	lung
46	chr7:150173800-150176000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr7:150174000-150174400	Flanking Bivalent TSS/Enh	K562	blood
48	chr7:150174000-150175000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr7:150174000-150175400	Weak transcription	NHEK	skin
50	chr7:150174000-150178400	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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