Variant report

Variant	rs6860432
Chromosome Location	chr5:118536233-118536234
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11241484	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11959739	0.90[EUR][1000 genomes]
rs12719254	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4243445	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4576176	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4588617	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895361	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6595175	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6595177	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6896024	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9327090	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882774	chr5:118325429-118553470	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv462426	chr5:118465249-118621672	Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv599564	chr5:118465249-118621672	ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1016595	chr5:118468658-118621672	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1019788	chr5:118488501-118607405	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv537882	chr5:118488501-118607405	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv1034616	chr5:118506348-118600391	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv1031914	chr5:118516878-118589497	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118483000-118541400	Weak transcription	NHEK	skin
2	chr5:118485800-118572200	Weak transcription	Small Intestine	intestine
3	chr5:118486000-118588600	Weak transcription	Right Ventricle	heart
4	chr5:118489800-118591200	Weak transcription	Colonic Mucosa	Colon
5	chr5:118498000-118584200	Weak transcription	Spleen	Spleen
6	chr5:118503800-118585800	Weak transcription	NH-A	brain
7	chr5:118505400-118554600	Weak transcription	HepG2	liver
8	chr5:118507800-118580200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr5:118514400-118589000	Weak transcription	Pancreas	Pancrea
10	chr5:118514400-118591400	Weak transcription	Esophagus	oesophagus
11	chr5:118514600-118554800	Weak transcription	NHDF-Ad	bronchial
12	chr5:118516000-118544000	Weak transcription	Hela-S3	cervix
13	chr5:118516200-118538000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr5:118516200-118554800	Weak transcription	Osteobl	bone
15	chr5:118521200-118571000	Weak transcription	HMEC	breast
16	chr5:118524200-118570800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr5:118524400-118571000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr5:118524600-118536600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr5:118524600-118537400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr5:118524600-118561200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr5:118524600-118584200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr5:118525400-118541000	Strong transcription	Liver	Liver
23	chr5:118527600-118537400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr5:118527800-118549000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr5:118531800-118536400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr5:118531800-118536400	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr5:118532200-118540800	Strong transcription	Duodenum Mucosa	Duodenum
28	chr5:118532400-118536400	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr5:118532800-118536400	Strong transcription	Stomach Smooth Muscle	stomach
30	chr5:118532800-118540600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr5:118533200-118537600	Strong transcription	Primary T cells from cord blood	blood
32	chr5:118533200-118538200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
33	chr5:118534000-118536400	Strong transcription	Fetal Brain Male	brain
34	chr5:118534200-118536400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
35	chr5:118534200-118536600	ZNF genes & repeats	Fetal Brain Female	brain
36	chr5:118534200-118538200	ZNF genes & repeats	Fetal Muscle Leg	muscle
37	chr5:118534400-118536400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
38	chr5:118534400-118536600	Weak transcription	K562	blood
39	chr5:118534600-118538000	Weak transcription	HSMM	muscle
40	chr5:118534600-118574200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr5:118534800-118542000	Weak transcription	A549	lung
42	chr5:118535000-118536400	ZNF genes & repeats	Brain Angular Gyrus	brain
43	chr5:118535000-118536600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr5:118535000-118536600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr5:118535000-118536600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr5:118535000-118536600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr5:118535000-118537000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr5:118535000-118537400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:118535000-118538000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr5:118535000-118538200	Weak transcription	Fetal Intestine Small	intestine

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