Variant report

Variant	rs2059723
Chromosome Location	chr2:171831197-171831198
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:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:171829682..171831989-chr2:171879829..171882156,2	MCF-7	breast:
2	chr2:171828921..171832417-chr2:172287512..172291387,9	MCF-7	breast:
3	chr2:171828900..171831418-chr2:171870207..171872627,2	MCF-7	breast:
4	chr2:171829582..171831952-chr2:171873813..171875953,2	MCF-7	breast:
5	chr2:171828415..171832020-chr2:172013629..172018339,9	K562	blood:
6	chr2:171828262..171831608-chr2:172289755..172293219,4	K562	blood:
7	chr2:171830334..171832213-chr2:171912666..171915147,2	K562	blood:
8	chr2:171830988..171833432-chr2:172289480..172291537,2	K562	blood:
9	chr2:171829705..171831736-chr2:171840478..171843316,2	MCF-7	breast:
10	chr2:171830458..171832703-chr2:171892970..171895411,2	K562	blood:
11	chr2:171823033..171825275-chr2:171825625..171831472,9	K562	blood:
12	chr2:171830081..171832859-chr2:172285221..172286782,2	MCF-7	breast:
13	chr2:171783032..171788275-chr2:171824950..171831826,10	K562	blood:
14	chr2:171829864..171832222-chr2:172003176..172005661,2	MCF-7	breast:
15	chr2:171829580..171831728-chr2:171945403..171948277,2	MCF-7	breast:
16	chr2:171830122..171831623-chr2:171940240..171942283,2	MCF-7	breast:
17	chr2:171830276..171832132-chr2:172271180..172272801,2	MCF-7	breast:
18	chr12:114701025..114703275-chr2:171828800..171831736,2	MCF-7	breast:
19	chr2:171829044..171833904-chr2:172289780..172292386,7	MCF-7	breast:
20	chr2:171830241..171832520-chr2:172396337..172399397,3	MCF-7	breast:
21	chr2:171831104..171831914-chr2:172272322..172273272,2	K562	blood:
22	chr2:171829457..171832213-chr2:171912666..171915097,2	K562	blood:
23	chr2:171797614..171801245-chr2:171829863..171832287,3	MCF-7	breast:
24	chr2:171828467..171833455-chr2:172014696..172018339,11	K562	blood:
25	chr2:171784327..171789462-chr2:171828243..171831352,6	K562	blood:
26	chr2:171830106..171833063-chr2:171996453..171998706,2	K562	blood:
27	chr2:171828787..171834064-chr2:172014893..172018034,9	MCF-7	breast:
28	chr2:171829283..171832000-chr2:172272425..172274768,3	MCF-7	breast:
29	chr2:171218037..171220892-chr2:171829255..171832038,2	MCF-7	breast:
30	chr2:171827918..171832960-chr2:172014444..172018904,9	MCF-7	breast:
31	chr2:171785126..171787756-chr2:171828278..171833323,7	MCF-7	breast:
32	chr2:171829670..171831937-chr2:172274360..172276442,2	MCF-7	breast:
33	chr2:171829711..171831608-chr2:171843095..171845582,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000123600	Chromatin interaction
ENSG00000115827	Chromatin interaction
ENSG00000115806	Chromatin interaction
ENSG00000198586	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1035839	0.91[CEU][hapmap];0.93[TSI][hapmap]
rs10930450	0.82[ASN][1000 genomes]
rs11902369	0.81[CHB][hapmap]
rs11904750	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap]
rs12467411	0.95[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs12473741	0.80[CHB][hapmap];0.87[CHD][hapmap];0.81[JPT][hapmap]
rs13017649	0.91[CEU][hapmap];0.93[TSI][hapmap]
rs13389859	0.91[CEU][hapmap]
rs13410683	0.85[CHB][hapmap]
rs16859050	0.86[CHB][hapmap];0.84[CHD][hapmap]
rs16859087	0.90[CEU][hapmap]
rs16859121	0.91[CEU][hapmap]
rs16859157	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs16859167	0.91[CEU][hapmap]
rs16859176	0.91[CEU][hapmap]
rs16859177	0.91[CEU][hapmap]
rs17505447	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs1863679	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[CHD][hapmap];0.90[JPT][hapmap]
rs2081767	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap]
rs2081768	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs2098999	0.86[CHB][hapmap]
rs2356422	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2356424	0.87[ASN][1000 genomes]
rs2356600	0.91[CEU][hapmap]
rs2356609	0.91[CEU][hapmap]
rs2676143	0.91[CEU][hapmap];0.93[TSI][hapmap]
rs2676145	0.91[CEU][hapmap];0.93[TSI][hapmap]
rs2723248	0.82[CEU][hapmap]
rs2723250	0.91[CEU][hapmap]
rs2723253	0.91[CEU][hapmap];0.86[TSI][hapmap]
rs2883940	0.91[CEU][hapmap]
rs3731993	0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs3755124	0.86[CHB][hapmap];0.84[CHD][hapmap]
rs3755126	0.86[CHB][hapmap];0.83[CHD][hapmap]
rs3770419	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs3770436	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs4668343	0.86[CHB][hapmap]
rs4668354	0.86[CHB][hapmap]
rs4668356	0.91[CEU][hapmap];0.93[TSI][hapmap]
rs61233426	0.91[ASN][1000 genomes]
rs6736045	0.91[CEU][hapmap]
rs6753513	0.91[CEU][hapmap]
rs7608813	1.00[CEU][hapmap]
rs930035	0.81[CHB][hapmap];0.81[CHD][hapmap]
rs964172	0.81[CHB][hapmap]
rs9752051	0.91[CEU][hapmap]

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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171830000-171831600	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr2:171830200-171831200	Flanking Active TSS	NHEK	skin
3	chr2:171830400-171831200	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr2:171830400-171842200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:171830600-171831200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:171830600-171831200	Enhancers	Aorta	Aorta
7	chr2:171830600-171831200	Flanking Active TSS	Duodenum Mucosa	Duodenum
8	chr2:171830600-171831200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
9	chr2:171830600-171831200	Enhancers	HSMMtube	muscle
10	chr2:171830600-171831400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:171830600-171831400	Flanking Bivalent TSS/Enh	HepG2	liver
12	chr2:171830600-171831600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:171830600-171832600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:171830600-171832600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:171830600-171902800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr2:171830800-171831200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:171830800-171831200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:171830800-171831200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr2:171830800-171831200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr2:171830800-171831200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:171830800-171831200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:171830800-171831200	Enhancers	Brain Germinal Matrix	brain
23	chr2:171830800-171831200	Enhancers	Fetal Muscle Trunk	muscle
24	chr2:171830800-171831200	Enhancers	Placenta Amnion	Placenta Amnion
25	chr2:171830800-171831200	Enhancers	Small Intestine	intestine
26	chr2:171830800-171831400	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr2:171830800-171831400	Bivalent Enhancer	Stomach Mucosa	stomach
28	chr2:171830800-171831400	Enhancers	GM12878-XiMat	blood
29	chr2:171830800-171831600	Enhancers	Primary B cells from peripheral blood	blood
30	chr2:171830800-171832200	Enhancers	K562	blood
31	chr2:171830800-171832400	Enhancers	Placenta	Placenta
32	chr2:171830800-171832600	Enhancers	Fetal Intestine Large	intestine
33	chr2:171830800-171832600	Enhancers	Fetal Intestine Small	intestine
34	chr2:171830800-171839800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:171830800-171891400	Weak transcription	Spleen	Spleen
36	chr2:171831000-171831200	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr2:171831000-171831200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:171831000-171831200	Enhancers	Primary T cells fromperipheralblood	blood
39	chr2:171831000-171831200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:171831000-171831200	Enhancers	Liver	Liver
41	chr2:171831000-171831200	Enhancers	Colonic Mucosa	Colon
42	chr2:171831000-171831200	Enhancers	A549	lung
43	chr2:171831000-171831200	Enhancers	Hela-S3	cervix
44	chr2:171831000-171831200	Enhancers	HMEC	breast
45	chr2:171831000-171831200	Enhancers	NHDF-Ad	bronchial
46	chr2:171831000-171831200	Enhancers	Osteobl	bone
47	chr2:171831000-171831400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:171831000-171831400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr2:171831000-171831600	Enhancers	H9 Cell Line	embryonic stem cell
50	chr2:171831000-171831600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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