Variant report

Variant	rs17681908
Chromosome Location	chr5:75991420-75991421
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:75987359..75989456-chr5:75991308..75993702,2	K562	blood:
2	chr5:75987956..75990820-chr5:75991308..75992869,2	K562	blood:
3	chr5:75986793..75988568-chr5:75989789..75992230,2	MCF-7	breast:
4	chr5:75985699..75988121-chr5:75989171..75991647,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs2227746	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2227749	0.80[ASN][1000 genomes]
rs2227753	1.00[GIH][hapmap]
rs2227757	0.80[ASN][1000 genomes]
rs2287932	1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs253089	0.89[AMR][1000 genomes]
rs2909888	1.00[LWK][hapmap]
rs61370375	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61557265	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73127565	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73127576	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73127579	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73127582	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73127587	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73127593	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73127597	0.90[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1035135	chr5:75927027-76092058	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75945200-76001000	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr5:75946400-76001000	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr5:75947800-75992000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr5:75948000-76004600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr5:75950800-75999400	Weak transcription	Ovary	ovary
6	chr5:75951800-76001400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr5:75955000-75996600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:75969800-75999600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr5:75975600-75999600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:75977600-76003400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr5:75978400-76001600	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr5:75978400-76004400	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr5:75978600-76003400	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr5:75979800-75996200	Strong transcription	Liver	Liver
15	chr5:75980600-76002600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr5:75980800-76000200	Strong transcription	Primary hematopoietic stem cells	blood
17	chr5:75981200-76001600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr5:75985800-76004400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr5:75986600-75996800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:75986600-76000000	Strong transcription	Primary B cells from cord blood	blood
21	chr5:75987400-75993800	Weak transcription	HepG2	liver
22	chr5:75987600-75992000	Weak transcription	K562	blood
23	chr5:75987600-75996200	Weak transcription	Fetal Stomach	stomach
24	chr5:75987600-75996600	Weak transcription	Gastric	stomach
25	chr5:75987600-75996800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:75987600-76001200	Weak transcription	Small Intestine	intestine
27	chr5:75987800-75992200	Weak transcription	HMEC	breast
28	chr5:75987800-76001400	Weak transcription	Fetal Lung	lung
29	chr5:75988000-75994000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr5:75988000-75996800	Weak transcription	NHEK	skin
31	chr5:75988000-75999200	Weak transcription	Stomach Mucosa	stomach
32	chr5:75988200-75992200	Enhancers	HUVEC	blood vessel
33	chr5:75988200-75992600	Strong transcription	Primary T cells from cord blood	blood
34	chr5:75988200-75995600	Weak transcription	Left Ventricle	heart
35	chr5:75988200-75996600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr5:75988200-75996800	Weak transcription	NH-A	brain
37	chr5:75988200-75997000	Weak transcription	Spleen	Spleen
38	chr5:75988200-75997000	Weak transcription	Osteobl	bone
39	chr5:75988200-75999400	Strong transcription	Placenta	Placenta
40	chr5:75988200-75999600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:75988400-75991600	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr5:75988400-75991800	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr5:75988400-75992600	Strong transcription	Duodenum Mucosa	Duodenum
44	chr5:75988400-75998600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
45	chr5:75988400-76004600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr5:75988600-75992200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr5:75988600-75992600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr5:75988600-75992600	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr5:75988600-76001800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr5:75988600-76007800	Weak transcription	Fetal Intestine Large	intestine

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