Variant report

Variant	rs208006
Chromosome Location	chr17:46237667-46237668
allele	A/T
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	SIN3AK20	chr17:46237656-46238787	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:46236677..46239400-chr17:46239909..46241915,2	K562	blood:
2	chr17:46102851..46105314-chr17:46237154..46238995,2	MCF-7	breast:

Variant related genes	Relation type
MIR1203	TF binding region
ENSG00000141293	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11079815	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11079817	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12452103	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1349676	0.85[EUR][1000 genomes]
rs1452661	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs188268	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1910574	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs208007	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs208013	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs208017	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2123342	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2325886	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28439030	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28551638	0.89[EUR][1000 genomes]
rs2924255	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2924256	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2924258	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2938471	0.82[ASN][1000 genomes]
rs2938480	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2938482	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2957932	0.82[ASN][1000 genomes]
rs2957933	0.82[ASN][1000 genomes]
rs3792693	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4794426	0.87[EUR][1000 genomes]
rs4794427	0.87[EUR][1000 genomes]
rs4794467	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4794488	0.83[EUR][1000 genomes]
rs5016303	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs595874	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6504100	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6504101	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6504113	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7207270	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7208796	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7213530	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7216766	0.89[EUR][1000 genomes]
rs7220940	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7225140	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8066529	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8071262	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8077814	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8081199	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs979746	0.82[ASN][1000 genomes]
rs9893405	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv908576	chr17:46147807-46260366	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46216400-46251400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr17:46220800-46249000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr17:46221600-46238400	Weak transcription	Fetal Thymus	thymus
4	chr17:46230600-46245000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr17:46231000-46243800	Weak transcription	Primary B cells from cord blood	blood
6	chr17:46231800-46238200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr17:46232000-46238000	Weak transcription	Pancreas	Pancrea
8	chr17:46232000-46239000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr17:46232000-46239800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr17:46233400-46238200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr17:46234000-46240600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr17:46234200-46238000	Weak transcription	Thymus	Thymus
13	chr17:46234400-46238400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr17:46234400-46239600	Weak transcription	GM12878-XiMat	blood
15	chr17:46234400-46240600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr17:46235600-46240600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr17:46236000-46241200	Enhancers	Fetal Intestine Large	intestine
18	chr17:46236000-46250200	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr17:46236200-46244200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr17:46236400-46238200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr17:46236400-46240600	Enhancers	Fetal Kidney	kidney
22	chr17:46236400-46241200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr17:46236400-46241200	Enhancers	Fetal Intestine Small	intestine
24	chr17:46236400-46242600	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr17:46236600-46237800	Enhancers	Liver	Liver
26	chr17:46236600-46238200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr17:46236600-46238200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr17:46236600-46239200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr17:46236600-46239200	Strong transcription	Primary B cells from peripheral blood	blood
30	chr17:46236600-46239400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
31	chr17:46236600-46242600	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr17:46236800-46240000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
33	chr17:46236800-46244200	Strong transcription	Primary T cells from cord blood	blood
34	chr17:46237000-46240400	Enhancers	Duodenum Mucosa	Duodenum
35	chr17:46237000-46241200	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr17:46237200-46238200	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr17:46237200-46239800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr17:46237200-46240800	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr17:46237400-46237800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr17:46237400-46238200	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr17:46237400-46242000	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr17:46237600-46238000	Enhancers	Gastric	stomach
43	chr17:46237600-46238200	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr17:46237600-46238400	Enhancers	Small Intestine	intestine
45	chr17:46237600-46238400	Enhancers	A549	lung
46	chr17:46237600-46239200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood

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