Variant report

Variant	rs13017649
Chromosome Location	chr2:171788913-171788914
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:171764593..171767413-chr2:171787705..171789524,2	K562	blood:
2	chr2:171788393..171792186-chr2:171793028..171799958,7	MCF-7	breast:
3	chr2:171786011..171788954-chr2:172272838..172276305,3	K562	blood:
4	chr2:171787073..171789315-chr2:171814638..171817447,2	K562	blood:
5	chr2:171786521..171789315-chr2:171814811..171817447,2	K562	blood:
6	chr2:171786681..171789668-chr2:172749612..172751986,2	K562	blood:
7	chr2:171786011..171788954-chr2:172274093..172276305,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000115840	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1035839	1.00[CEU][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs13028361	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13389859	1.00[CEU][hapmap]
rs16859087	1.00[CEU][hapmap]
rs16859121	1.00[CEU][hapmap]
rs16859167	1.00[CEU][hapmap]
rs2059723	0.91[CEU][hapmap];0.93[TSI][hapmap]
rs2162574	0.80[CEU][hapmap]
rs2356600	1.00[CEU][hapmap]
rs2356609	1.00[CEU][hapmap]
rs2676139	0.98[EUR][1000 genomes]
rs2676143	1.00[CEU][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs2676145	1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2676158	0.93[EUR][1000 genomes]
rs2723248	0.91[CEU][hapmap]
rs2723250	1.00[CEU][hapmap]
rs2723253	1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.92[TSI][hapmap];0.91[EUR][1000 genomes]
rs2883940	1.00[CEU][hapmap]
rs4668342	0.80[CEU][hapmap];0.85[TSI][hapmap]
rs4668353	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4668356	1.00[CEU][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs6711510	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6736045	1.00[CEU][hapmap]
rs6743095	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6746413	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6753513	1.00[CEU][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7608813	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs966181	0.98[EUR][1000 genomes]
rs999837	0.93[EUR][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	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

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171787000-171793800	Weak transcription	Gastric	stomach
2	chr2:171787000-171810400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:171787200-171790800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:171787200-171791000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr2:171787200-171791400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:171787200-171793200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:171787200-171793800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:171787200-171795200	Weak transcription	Ovary	ovary
9	chr2:171787400-171789000	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr2:171787400-171789000	Enhancers	Rectal Smooth Muscle	rectum
11	chr2:171787400-171789400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr2:171787400-171790200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr2:171787400-171790600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:171787400-171790800	Weak transcription	Fetal Muscle Leg	muscle
15	chr2:171787400-171790800	Weak transcription	Pancreas	Pancrea
16	chr2:171787400-171791000	Weak transcription	Lung	lung
17	chr2:171787400-171791200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr2:171787400-171791400	Weak transcription	Thymus	Thymus
19	chr2:171787400-171792200	Weak transcription	Fetal Thymus	thymus
20	chr2:171787400-171792800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr2:171787400-171792800	Weak transcription	Spleen	Spleen
22	chr2:171787400-171793000	Weak transcription	Placenta	Placenta
23	chr2:171787400-171806000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr2:171787400-171806000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr2:171787400-171806000	Weak transcription	Esophagus	oesophagus
26	chr2:171787400-171806000	Weak transcription	Psoas Muscle	Psoas
27	chr2:171787400-171807200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:171787400-171808200	Weak transcription	Aorta	Aorta
29	chr2:171787400-171810000	Weak transcription	Small Intestine	intestine
30	chr2:171787600-171789000	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr2:171787600-171789000	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr2:171787600-171789000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:171787600-171789000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:171787600-171789200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr2:171787600-171789200	Flanking Active TSS	HepG2	liver
36	chr2:171787600-171790200	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr2:171787600-171790600	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr2:171787600-171790600	Enhancers	Liver	Liver
39	chr2:171787600-171791000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:171787600-171791000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr2:171787600-171793200	Weak transcription	Primary B cells from peripheral blood	blood
42	chr2:171787600-171793800	Weak transcription	Right Ventricle	heart
43	chr2:171787600-171796600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr2:171787600-171806800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr2:171787600-171807600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr2:171787600-171829800	Weak transcription	Right Atrium	heart
47	chr2:171787800-171789200	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr2:171787800-171789200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr2:171787800-171789400	Enhancers	NHEK	skin
50	chr2:171787800-171790000	Enhancers	Primary T cells from cord blood	blood

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