Variant report

Variant	rs16970407
Chromosome Location	chr16:70669535-70669536
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10163215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10163436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11859014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11866663	1.00[AMR][1000 genomes]
rs55638004	1.00[AMR][1000 genomes]
rs55641601	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55952842	1.00[AMR][1000 genomes]
rs57770619	1.00[AMR][1000 genomes]
rs57982245	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59149508	1.00[AMR][1000 genomes]
rs60762222	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61077008	1.00[AMR][1000 genomes]
rs7206509	1.00[AMR][1000 genomes]
rs7206831	1.00[AMR][1000 genomes]
rs74024403	1.00[AMR][1000 genomes]
rs74024404	1.00[AMR][1000 genomes]
rs74024407	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024409	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024410	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024416	1.00[AMR][1000 genomes]
rs74026072	1.00[AMR][1000 genomes]
rs74026076	1.00[AMR][1000 genomes]
rs74026080	1.00[AMR][1000 genomes]
rs74026081	1.00[AMR][1000 genomes]
rs8049495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8054087	1.00[AMR][1000 genomes]
rs8057671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8061445	1.00[AFR][1000 genomes];1.00[AMR][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	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

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70666000-70679000	Weak transcription	Spleen	Spleen
2	chr16:70668600-70669600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr16:70668600-70669600	Enhancers	NHLF	lung
4	chr16:70668600-70670400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr16:70668600-70670800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:70668600-70670800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr16:70668800-70669600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr16:70668800-70669600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr16:70669000-70669600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr16:70669000-70669600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr16:70669000-70669600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr16:70669000-70669600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr16:70669000-70669600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr16:70669000-70669600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr16:70669000-70669600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr16:70669000-70669600	Enhancers	Colon Smooth Muscle	Colon
17	chr16:70669000-70669600	Enhancers	Fetal Stomach	stomach
18	chr16:70669000-70669600	Enhancers	HMEC	breast
19	chr16:70669000-70669600	Enhancers	HSMMtube	muscle
20	chr16:70669000-70670000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr16:70669000-70670200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr16:70669000-70670200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr16:70669000-70670600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr16:70669000-70670600	Enhancers	Aorta	Aorta
25	chr16:70669200-70669600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr16:70669200-70669600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr16:70669200-70669600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr16:70669200-70669600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr16:70669200-70669600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr16:70669200-70669600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr16:70669200-70669600	Enhancers	Fetal Kidney	kidney
32	chr16:70669200-70669600	Enhancers	Ovary	ovary
33	chr16:70669200-70669600	Enhancers	Right Atrium	heart
34	chr16:70669200-70669600	Flanking Active TSS	HUVEC	blood vessel
35	chr16:70669200-70669600	Flanking Active TSS	NH-A	brain
36	chr16:70669200-70669600	Flanking Active TSS	NHDF-Ad	bronchial
37	chr16:70669200-70669600	Enhancers	NHEK	skin
38	chr16:70669200-70669600	Flanking Active TSS	Osteobl	bone
39	chr16:70669200-70670600	Strong transcription	Fetal Intestine Small	intestine
40	chr16:70669400-70669600	Bivalent Enhancer	HepG2	liver
41	chr16:70669400-70669600	Flanking Active TSS	HSMM	muscle
42	chr16:70669400-70672800	Weak transcription	Esophagus	oesophagus
43	chr16:70669400-70673000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr16:70669400-70673200	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr16:70669400-70673200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr16:70669400-70673200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr16:70669400-70673200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr16:70669400-70679000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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