Variant report

Variant	rs1112247
Chromosome Location	chr5:118683502-118683503
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118669449..118670965-chr5:118681990..118684958,2	K562	blood:
2	chr5:118675434..118678874-chr5:118679948..118684456,6	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10059175	0.91[YRI][hapmap]
rs10477585	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11949608	0.86[CHB][hapmap]
rs13155880	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1396609	0.95[LWK][hapmap];0.81[MKK][hapmap];0.91[YRI][hapmap]
rs17145265	0.92[LWK][hapmap];0.82[MKK][hapmap];0.87[YRI][hapmap]
rs250298	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs250299	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs250308	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32653	0.92[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs32655	0.90[AFR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs32657	0.90[AFR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs32658	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];0.94[LWK][hapmap];0.92[MKK][hapmap];0.89[TSI][hapmap];0.87[YRI][hapmap];0.89[AFR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3797339	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3797343	0.91[YRI][hapmap]
rs3813308	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.95[TSI][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3920174	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs408095	0.88[CEU][hapmap];0.87[CHB][hapmap];0.91[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs461108	0.80[GIH][hapmap]
rs465091	0.81[JPT][hapmap]
rs4895372	0.83[CEU][hapmap];0.86[JPT][hapmap]
rs6864305	0.91[YRI][hapmap]
rs6869512	0.91[YRI][hapmap]
rs6875595	0.80[GIH][hapmap]
rs6876224	0.92[LWK][hapmap];0.85[MKK][hapmap];0.91[YRI][hapmap]
rs6877025	0.89[LWK][hapmap];0.84[MKK][hapmap];0.87[YRI][hapmap]
rs6896553	0.95[LWK][hapmap];0.81[MKK][hapmap];0.91[YRI][hapmap]
rs7707470	0.81[AFR][1000 genomes]
rs996934	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869828	chr5:118610548-118691190	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv599565	chr5:118661882-118691888	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv882775	chr5:118669094-118691888	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118670800-118691000	Weak transcription	Aorta	Aorta
2	chr5:118671200-118695400	Weak transcription	A549	lung
3	chr5:118673200-118683600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:118673200-118683800	Weak transcription	Hela-S3	cervix
5	chr5:118674200-118689000	Weak transcription	Esophagus	oesophagus
6	chr5:118674400-118689000	Weak transcription	Gastric	stomach
7	chr5:118676800-118689000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:118676800-118691400	Weak transcription	Lung	lung
9	chr5:118677000-118686000	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr5:118677200-118686800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr5:118678000-118690600	Weak transcription	NHEK	skin
12	chr5:118678200-118684600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr5:118678800-118683600	Weak transcription	Adipose Nuclei	Adipose
14	chr5:118678800-118686400	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr5:118679000-118690600	Weak transcription	Fetal Intestine Small	intestine
16	chr5:118679000-118690800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr5:118679600-118683600	Weak transcription	Fetal Kidney	kidney
18	chr5:118679800-118683800	Weak transcription	Fetal Lung	lung
19	chr5:118679800-118689400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr5:118680000-118683600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:118680200-118683600	Weak transcription	Osteobl	bone
22	chr5:118680200-118683800	Weak transcription	Small Intestine	intestine
23	chr5:118680200-118690400	Weak transcription	Stomach Mucosa	stomach
24	chr5:118680200-118690600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:118680200-118690600	Weak transcription	Colonic Mucosa	Colon
26	chr5:118680400-118689000	Weak transcription	Placenta	Placenta
27	chr5:118680400-118690600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr5:118680800-118691000	Weak transcription	HSMMtube	muscle
29	chr5:118681200-118683800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr5:118681600-118684000	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr5:118681600-118684800	Genic enhancers	Primary T cells from cord blood	blood
32	chr5:118681800-118684000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr5:118681800-118685400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr5:118681800-118685400	Genic enhancers	Primary T cells fromperipheralblood	blood
35	chr5:118682000-118684600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr5:118682000-118684600	Weak transcription	Duodenum Mucosa	Duodenum
37	chr5:118682000-118685800	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr5:118682000-118689200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr5:118682000-118689200	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr5:118682000-118689200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr5:118682000-118689600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr5:118682200-118683600	Flanking Active TSS	GM12878-XiMat	blood
43	chr5:118682200-118683600	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr5:118682200-118683800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:118682200-118685800	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr5:118682200-118687800	Weak transcription	Fetal Thymus	thymus
47	chr5:118682200-118688200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr5:118682200-118689600	Weak transcription	Pancreas	Pancrea
49	chr5:118682600-118683600	Weak transcription	NH-A	brain
50	chr5:118682600-118684000	Enhancers	HUES64 Cell Line	embryonic stem cell

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