Variant report

Variant	rs2955352
Chromosome Location	chr17:17961389-17961390
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17959821..17961989-chr17:17966641..17969324,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11078408	0.87[ASN][1000 genomes]
rs11078409	0.81[ASN][1000 genomes]
rs11650021	0.83[AMR][1000 genomes]
rs11658257	0.87[ASN][1000 genomes]
rs12939020	0.84[AMR][1000 genomes]
rs12940282	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs28537385	0.90[ASN][1000 genomes]
rs2955350	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2955353	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2955354	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2955355	0.81[AMR][1000 genomes]
rs2955356	0.83[AMR][1000 genomes]
rs2955357	0.82[AMR][1000 genomes]
rs2955358	0.81[AMR][1000 genomes]
rs2955359	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2955369	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2955370	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2955372	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2955377	0.87[ASN][1000 genomes]
rs2955378	0.90[ASN][1000 genomes]
rs2955380	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2955381	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2955383	0.81[AMR][1000 genomes]
rs2955384	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2955385	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3935505	0.87[ASN][1000 genomes]
rs3935506	0.87[ASN][1000 genomes]
rs4368210	0.90[ASN][1000 genomes]
rs4471742	0.80[ASN][1000 genomes]
rs4506969	0.87[ASN][1000 genomes]
rs4584886	0.90[ASN][1000 genomes]
rs4925135	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4925136	0.81[AMR][1000 genomes]
rs62072050	0.82[ASN][1000 genomes]
rs6502633	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6502634	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7207461	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7207821	0.90[ASN][1000 genomes]
rs7210400	0.81[AMR][1000 genomes]
rs7215524	0.90[ASN][1000 genomes]
rs7224047	0.87[ASN][1000 genomes]
rs7406982	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7503738	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs8070731	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs8071238	0.90[ASN][1000 genomes]
rs8080334	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs8080602	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs8082590	0.81[AMR][1000 genomes]
rs9894138	0.86[AMR][1000 genomes]
rs9896837	0.90[ASN][1000 genomes]
rs9914127	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription 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 miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
4	nsv482879	chr17:17802463-17989273	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription 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	13 gene(s)	inside rSNPs	diseases
5	nsv960429	chr17:17951047-18027679	Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv482491	chr17:17959577-18153920	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17944000-17974200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr17:17944000-17974200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr17:17944200-17974400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr17:17944400-17961800	Weak transcription	Fetal Kidney	kidney
5	chr17:17944400-17962000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr17:17944400-17978800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr17:17945200-17965200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr17:17945400-17967200	Weak transcription	Small Intestine	intestine
9	chr17:17947000-17974400	Weak transcription	Fetal Heart	heart
10	chr17:17947400-17963400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr17:17948600-17964400	Weak transcription	K562	blood
12	chr17:17950000-17974400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr17:17950800-17974000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr17:17951000-17962000	Weak transcription	Colonic Mucosa	Colon
15	chr17:17951000-17965600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr17:17953400-17970000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr17:17953600-17966000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr17:17954000-17968600	Weak transcription	Psoas Muscle	Psoas
19	chr17:17954200-17974200	Weak transcription	Fetal Brain Male	brain
20	chr17:17954800-17974200	Weak transcription	Stomach Mucosa	stomach
21	chr17:17955200-17963000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr17:17955600-17963200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr17:17955600-17963200	Strong transcription	Dnd41	blood
24	chr17:17955600-17969400	Strong transcription	Fetal Muscle Leg	muscle
25	chr17:17955600-17969800	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr17:17955600-17970600	Strong transcription	Fetal Muscle Trunk	muscle
27	chr17:17955600-17971200	Strong transcription	Liver	Liver
28	chr17:17956600-17970800	Strong transcription	Fetal Intestine Small	intestine
29	chr17:17956800-17963000	Strong transcription	Primary T cells from cord blood	blood
30	chr17:17956800-17963000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr17:17956800-17969400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr17:17956800-17969800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr17:17956800-17969800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr17:17957000-17963000	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr17:17957000-17970200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr17:17957200-17962800	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr17:17957200-17962800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr17:17957200-17966000	Strong transcription	Primary B cells from peripheral blood	blood
39	chr17:17957200-17970600	Strong transcription	Stomach Smooth Muscle	stomach
40	chr17:17957200-17970800	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr17:17957400-17962800	Strong transcription	Duodenum Mucosa	Duodenum
42	chr17:17957400-17963000	Strong transcription	Adipose Nuclei	Adipose
43	chr17:17957400-17963000	Strong transcription	Brain Anterior Caudate	brain
44	chr17:17957400-17969400	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr17:17958000-17961800	Weak transcription	HUVEC	blood vessel
46	chr17:17958000-17962000	Weak transcription	Colon Smooth Muscle	Colon
47	chr17:17958000-17962000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr17:17958000-17962200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr17:17958000-17964600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr17:17958000-17964600	Weak transcription	NH-A	brain

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