Variant report

Variant	rs8075170
Chromosome Location	chr17:16337714-16337715
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr17:16337668-16338413	GM12878	blood:	n/a	chr17:16337896-16337909 chr17:16337899-16337908 chr17:16337898-16337909 chr17:16337898-16337909
2	POLR2A	chr17:16337662-16341104	GM12878	blood:	n/a	n/a
3	POLR2A	chr17:16336081-16341078	K562	blood:	n/a	n/a
4	POLR2A	chr17:16337699-16341143	GM12892	blood:	n/a	n/a
5	POLR2A	chr17:16337609-16338742	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:16328263..16331417-chr17:16335355..16337965,3	K562	blood:

Variant related genes	Relation type
TRPV2	TF binding region
FAM211A-AS1	TF binding region
ENSG00000239203	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1006958	1.00[EUR][1000 genomes]
rs57100283	1.00[EUR][1000 genomes]
rs57540884	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57939654	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57958152	1.00[EUR][1000 genomes]
rs58069228	1.00[EUR][1000 genomes]
rs58203269	1.00[EUR][1000 genomes]
rs58213352	1.00[EUR][1000 genomes]
rs58937503	1.00[EUR][1000 genomes]
rs59191673	1.00[EUR][1000 genomes]
rs59414015	1.00[EUR][1000 genomes]
rs59837344	1.00[EUR][1000 genomes]
rs60277322	1.00[EUR][1000 genomes]
rs60436356	1.00[EUR][1000 genomes]
rs61360753	1.00[EUR][1000 genomes]
rs61479315	1.00[EUR][1000 genomes]
rs61529373	1.00[EUR][1000 genomes]
rs7212903	1.00[EUR][1000 genomes]
rs7215443	1.00[AMR][1000 genomes]
rs7217230	1.00[EUR][1000 genomes]
rs7219038	1.00[EUR][1000 genomes]
rs7224408	1.00[AMR][1000 genomes]
rs7225649	1.00[EUR][1000 genomes]
rs73281934	1.00[EUR][1000 genomes]
rs73281961	1.00[EUR][1000 genomes]
rs73281967	1.00[EUR][1000 genomes]
rs73281977	1.00[EUR][1000 genomes]
rs73281979	1.00[EUR][1000 genomes]
rs73281980	1.00[EUR][1000 genomes]
rs73281981	1.00[EUR][1000 genomes]
rs73287023	1.00[EUR][1000 genomes]
rs73287032	1.00[EUR][1000 genomes]
rs73287067	1.00[EUR][1000 genomes]
rs73287076	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73287082	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73287088	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73287090	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73287414	1.00[EUR][1000 genomes]
rs73287419	1.00[EUR][1000 genomes]
rs73287423	1.00[EUR][1000 genomes]
rs73287425	1.00[EUR][1000 genomes]
rs73287426	1.00[EUR][1000 genomes]
rs73287441	1.00[EUR][1000 genomes]
rs73288903	1.00[EUR][1000 genomes]
rs73288904	1.00[EUR][1000 genomes]
rs8066726	1.00[EUR][1000 genomes]
rs8067000	1.00[EUR][1000 genomes]
rs8068254	1.00[EUR][1000 genomes]
rs8068968	1.00[AMR][1000 genomes]
rs8069679	1.00[EUR][1000 genomes]
rs8071289	1.00[EUR][1000 genomes]
rs8079037	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
3	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
5	nsv1063764	chr17:16171649-16662914	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
6	nsv1061463	chr17:16245878-16490691	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
7	nsv543216	chr17:16245878-16490691	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
8	nsv1065254	chr17:16252880-16389930	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
9	nsv428668	chr17:16265210-16455285	Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	89 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16320000-16341400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr17:16323400-16341600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr17:16325200-16341400	Weak transcription	NH-A	brain
4	chr17:16327200-16341400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr17:16327200-16341400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr17:16327200-16341600	Weak transcription	Left Ventricle	heart
7	chr17:16327200-16341600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr17:16328600-16338000	Strong transcription	Primary T cells from cord blood	blood
9	chr17:16329400-16341400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr17:16329400-16341400	Weak transcription	Fetal Intestine Large	intestine
11	chr17:16329400-16341600	Weak transcription	Liver	Liver
12	chr17:16329600-16341400	Weak transcription	HSMMtube	muscle
13	chr17:16330000-16341400	Weak transcription	NHDF-Ad	bronchial
14	chr17:16330000-16341600	Weak transcription	Colonic Mucosa	Colon
15	chr17:16330400-16341400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr17:16330400-16341600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr17:16331200-16341600	Weak transcription	HSMM	muscle
18	chr17:16331600-16341600	Weak transcription	Right Ventricle	heart
19	chr17:16331800-16341600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr17:16332000-16338800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr17:16332000-16341000	Strong transcription	NHLF	lung
22	chr17:16332000-16341200	Weak transcription	Fetal Intestine Small	intestine
23	chr17:16332000-16341400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr17:16332000-16341600	Weak transcription	Colon Smooth Muscle	Colon
25	chr17:16332000-16341600	Weak transcription	Pancreas	Pancrea
26	chr17:16332200-16338000	Weak transcription	HepG2	liver
27	chr17:16332200-16341400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr17:16332600-16338000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr17:16332600-16341400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr17:16332600-16341400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr17:16332600-16341400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr17:16332600-16341600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr17:16332600-16341600	Weak transcription	Gastric	stomach
34	chr17:16332600-16341600	Weak transcription	Ovary	ovary
35	chr17:16332600-16341600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr17:16332800-16341400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr17:16332800-16341600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr17:16333000-16340800	Weak transcription	Dnd41	blood
39	chr17:16333000-16341400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr17:16333000-16341400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr17:16333000-16341400	Weak transcription	K562	blood
42	chr17:16333600-16341400	Weak transcription	Primary B cells from cord blood	blood
43	chr17:16334200-16341400	Weak transcription	Primary hematopoietic stem cells	blood
44	chr17:16334200-16341600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr17:16335600-16339400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr17:16335600-16341400	Weak transcription	Fetal Thymus	thymus
47	chr17:16335800-16338000	Weak transcription	Placenta	Placenta
48	chr17:16335800-16341400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr17:16336000-16341400	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr17:16336600-16337800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links