Variant report

Variant	rs58126203
Chromosome Location	chr2:171896464-171896465
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:171896308..171898201-chr2:171899378..171901872,2	MCF-7	breast:
2	chr2:171894172..171896677-chr2:172291398..172293254,2	MCF-7	breast:
3	chr2:171896348..171898007-chr2:171899729..171902396,2	K562	blood:
4	chr2:171895455..171897918-chr2:172334255..172336331,2	K562	blood:

Variant related genes	Relation type
ENSG00000115827	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1019710	0.81[EUR][1000 genomes]
rs1019711	0.81[EUR][1000 genomes]
rs12467411	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12469418	0.81[EUR][1000 genomes]
rs12469870	0.81[EUR][1000 genomes]
rs12470359	0.81[EUR][1000 genomes]
rs12473741	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12477413	0.81[EUR][1000 genomes]
rs12477548	0.81[EUR][1000 genomes]
rs12477555	0.81[EUR][1000 genomes]
rs12478336	0.81[EUR][1000 genomes]
rs16859157	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16859189	0.81[EUR][1000 genomes]
rs1989612	0.81[EUR][1000 genomes]
rs2356424	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2356517	0.81[EUR][1000 genomes]
rs35614064	0.81[EUR][1000 genomes]
rs3731993	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3770419	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4305237	0.81[EUR][1000 genomes]
rs4331471	0.81[EUR][1000 genomes]
rs4365428	0.81[EUR][1000 genomes]
rs57851561	0.81[EUR][1000 genomes]
rs58289498	0.81[EUR][1000 genomes]
rs58712847	0.81[EUR][1000 genomes]
rs59083018	0.81[EUR][1000 genomes]
rs60241632	0.81[EUR][1000 genomes]
rs60724749	0.81[EUR][1000 genomes]
rs60729063	0.81[EUR][1000 genomes]
rs60928633	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61233426	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs728456	0.81[EUR][1000 genomes]
rs728457	0.81[EUR][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	nsv431801	chr2:171721493-171966493	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv834456	chr2:171874210-172014659	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171830600-171902800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:171831400-171916200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:171841600-171940000	Weak transcription	Right Ventricle	heart
4	chr2:171842600-171912000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:171846000-171898000	Weak transcription	Psoas Muscle	Psoas
6	chr2:171846200-171901000	Weak transcription	Fetal Brain Male	brain
7	chr2:171847400-171902600	Weak transcription	Brain Angular Gyrus	brain
8	chr2:171853200-171898800	Weak transcription	Aorta	Aorta
9	chr2:171859600-171897000	Weak transcription	Esophagus	oesophagus
10	chr2:171862600-171918400	Weak transcription	Brain Germinal Matrix	brain
11	chr2:171862800-171899000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:171862800-171931200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:171865800-171905000	Weak transcription	Fetal Heart	heart
14	chr2:171867800-171898600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:171867800-171898800	Weak transcription	Colonic Mucosa	Colon
16	chr2:171867800-171916200	Weak transcription	Gastric	stomach
17	chr2:171871200-171897800	Weak transcription	Pancreas	Pancrea
18	chr2:171871400-171898000	Weak transcription	Lung	lung
19	chr2:171874800-171916200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:171878000-171943200	Weak transcription	Small Intestine	intestine
21	chr2:171878800-171940000	Weak transcription	Stomach Mucosa	stomach
22	chr2:171881800-171899000	Strong transcription	Dnd41	blood
23	chr2:171882400-171900800	Weak transcription	NH-A	brain
24	chr2:171882600-171902200	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr2:171883200-171897200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr2:171883600-171916200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:171884200-171913000	Strong transcription	Liver	Liver
28	chr2:171885600-171902800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr2:171886000-171902200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:171887400-171903200	Strong transcription	Primary hematopoietic stem cells	blood
31	chr2:171888200-171913800	Strong transcription	HepG2	liver
32	chr2:171889000-171897800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr2:171890400-171901400	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr2:171890400-171912800	Strong transcription	Placenta	Placenta
35	chr2:171890400-171917600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:171890600-171902200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr2:171891000-171913400	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr2:171891400-171911600	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr2:171892000-171904000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:171892000-171906600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:171892400-171899000	Weak transcription	Fetal Kidney	kidney
42	chr2:171892400-171911800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:171892400-171943400	Weak transcription	Spleen	Spleen
44	chr2:171892600-171896600	Weak transcription	Brain Anterior Caudate	brain
45	chr2:171892600-171898000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr2:171892600-171899000	Strong transcription	Primary B cells from peripheral blood	blood
47	chr2:171892600-171899000	Weak transcription	HUVEC	blood vessel
48	chr2:171892600-171905000	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr2:171892600-171905000	Weak transcription	Brain Substantia Nigra	brain
50	chr2:171892600-171916200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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