Variant report

Variant	rs12596070
Chromosome Location	chr16:70686009-70686010
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:70685129..70687949-chr16:70714245..70716905,2	K562	blood:
2	chr16:70684913..70687861-chr16:70697213..70699784,2	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11865804	0.89[EUR][1000 genomes]
rs12598456	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12598945	0.80[EUR][1000 genomes]
rs12919296	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12919451	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12920334	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12920529	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12923477	0.81[EUR][1000 genomes]
rs12923630	0.80[EUR][1000 genomes]
rs12923637	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12924304	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12929463	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12929508	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12935541	0.82[EUR][1000 genomes]
rs1551530	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16970408	0.80[EUR][1000 genomes]
rs1973089	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1973090	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34426756	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34644948	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34692833	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34811595	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35283920	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35285555	0.80[EUR][1000 genomes]
rs35290416	0.80[EUR][1000 genomes]
rs35381200	0.81[EUR][1000 genomes]
rs35437297	0.82[EUR][1000 genomes]
rs35794088	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3813905	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4985413	0.80[EUR][1000 genomes]
rs4985546	0.82[EUR][1000 genomes]
rs4985549	0.80[EUR][1000 genomes]
rs4985550	0.80[EUR][1000 genomes]
rs4985551	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4985553	0.81[EUR][1000 genomes]
rs55872380	0.82[EUR][1000 genomes]
rs56220651	0.83[AMR][1000 genomes]
rs57738457	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57752020	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59865481	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61170208	0.82[EUR][1000 genomes]
rs71401818	0.84[EUR][1000 genomes]
rs7191249	0.80[EUR][1000 genomes]
rs7192723	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7198170	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8060584	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9933834	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517391	chr16:70666410-70840490	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer 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	30 gene(s)	inside rSNPs	diseases
2	nsv457517	chr16:70666722-70840490	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS 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 lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv572945	chr16:70666722-70840490	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv906874	chr16:70677785-70740707	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv906875	chr16:70677785-70742536	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv906876	chr16:70677785-70757555	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv906877	chr16:70677785-70766378	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer 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	18 gene(s)	inside rSNPs	diseases
8	nsv906878	chr16:70677785-70782922	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv906879	chr16:70677785-70790831	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS 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 miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv906880	chr16:70677785-70796515	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70669600-70687800	Weak transcription	Right Atrium	heart
2	chr16:70680000-70687200	Strong transcription	Fetal Intestine Small	intestine
3	chr16:70680800-70687800	Weak transcription	Colonic Mucosa	Colon
4	chr16:70680800-70687800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr16:70681400-70686400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr16:70681400-70687600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr16:70681800-70687800	Weak transcription	Brain Substantia Nigra	brain
8	chr16:70681800-70687800	Weak transcription	HSMM	muscle
9	chr16:70682000-70687800	Weak transcription	Fetal Muscle Leg	muscle
10	chr16:70682000-70687800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr16:70682400-70687800	Weak transcription	Fetal Brain Male	brain
12	chr16:70682600-70687800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr16:70682800-70686600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr16:70682800-70687800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr16:70682800-70687800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr16:70683200-70687800	Weak transcription	Fetal Stomach	stomach
17	chr16:70683200-70687800	Weak transcription	K562	blood
18	chr16:70683200-70688000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr16:70683600-70687600	Weak transcription	Brain Hippocampus Middle	brain
20	chr16:70683600-70687800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr16:70683600-70687800	Weak transcription	NHDF-Ad	bronchial
22	chr16:70683600-70697200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr16:70683600-70698600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr16:70684200-70697400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr16:70684800-70687800	Weak transcription	Fetal Intestine Large	intestine
26	chr16:70685200-70687000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr16:70685200-70687800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr16:70685200-70687800	Enhancers	Muscle Satellite Cultured Cells	--
29	chr16:70685400-70687800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr16:70685600-70687400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr16:70685600-70687400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr16:70685600-70687400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr16:70685600-70687600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr16:70685600-70687800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr16:70685600-70687800	Weak transcription	Brain Anterior Caudate	brain
36	chr16:70685600-70687800	Weak transcription	HMEC	breast
37	chr16:70685600-70687800	Weak transcription	NH-A	brain
38	chr16:70685600-70687800	Weak transcription	NHLF	lung
39	chr16:70685600-70688000	Weak transcription	Spleen	Spleen
40	chr16:70685600-70688200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr16:70685600-70688200	Weak transcription	Esophagus	oesophagus
42	chr16:70685600-70693600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr16:70685800-70686200	Weak transcription	HSMMtube	muscle
44	chr16:70685800-70687400	Weak transcription	Osteobl	bone
45	chr16:70685800-70687800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr16:70686000-70687400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr16:70686000-70687800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links