Variant report

Variant	rs7425786
Chromosome Location	chr2:11601508-11601509
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11595658..11598467-chr2:11600589..11603076,4	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10186511	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10929740	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10929741	0.82[ASN][1000 genomes]
rs10929742	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11674593	0.87[EUR][1000 genomes]
rs11680919	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11685543	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11686138	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11687178	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11687681	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11693023	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11694857	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12472962	0.93[AFR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12611958	0.99[ASN][1000 genomes]
rs12615317	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12988106	0.89[ASN][1000 genomes]
rs12990560	0.84[EUR][1000 genomes]
rs34514099	0.86[ASN][1000 genomes]
rs35306821	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35423645	0.86[ASN][1000 genomes]
rs35727311	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35818376	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4292073	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4491705	0.82[ASN][1000 genomes]
rs4553788	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4668726	0.85[EUR][1000 genomes]
rs57197575	0.84[EUR][1000 genomes]
rs61016299	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6432192	0.84[EUR][1000 genomes]
rs6432193	0.80[AFR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6432195	0.82[ASN][1000 genomes]
rs6432196	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6432200	0.81[EUR][1000 genomes]
rs6729114	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6751915	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7556984	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7584175	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7595697	0.87[EUR][1000 genomes]
rs9789694	0.90[EUR][1000 genomes];0.99[ASN][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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 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	chr2:11577600-11603800	Weak transcription	Colonic Mucosa	Colon
2	chr2:11579000-11604800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr2:11580200-11604000	Weak transcription	Fetal Brain Male	brain
4	chr2:11587200-11605400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:11587400-11605200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:11587600-11602200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:11587600-11603800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:11587600-11605400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:11589000-11604800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:11589200-11605400	Weak transcription	Thymus	Thymus
11	chr2:11589400-11605400	Weak transcription	Fetal Kidney	kidney
12	chr2:11589600-11603200	Weak transcription	Spleen	Spleen
13	chr2:11589600-11605400	Weak transcription	Esophagus	oesophagus
14	chr2:11589800-11603800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:11590000-11604000	Weak transcription	Brain Germinal Matrix	brain
16	chr2:11590200-11603800	Weak transcription	Small Intestine	intestine
17	chr2:11590200-11604800	Weak transcription	Primary B cells from cord blood	blood
18	chr2:11590200-11605400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:11591600-11603800	Weak transcription	Aorta	Aorta
20	chr2:11592000-11603800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:11592000-11603800	Weak transcription	Fetal Intestine Small	intestine
22	chr2:11592400-11603000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:11592600-11603800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:11593400-11605400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:11593600-11602600	Weak transcription	Fetal Brain Female	brain
26	chr2:11593600-11603400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr2:11593800-11602600	Weak transcription	Fetal Lung	lung
28	chr2:11593800-11605000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:11593800-11605200	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr2:11594000-11603400	Weak transcription	Placenta	Placenta
31	chr2:11594000-11605000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr2:11594000-11605200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr2:11594200-11603200	Weak transcription	Osteobl	bone
34	chr2:11594200-11605000	Weak transcription	Primary B cells from peripheral blood	blood
35	chr2:11594200-11605000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:11594600-11604800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr2:11595200-11604200	Weak transcription	NHDF-Ad	bronchial
38	chr2:11595200-11605000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr2:11595400-11603400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr2:11595600-11602600	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr2:11595600-11603200	Weak transcription	Fetal Intestine Large	intestine
42	chr2:11595600-11605200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr2:11596200-11602000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:11596200-11602600	Weak transcription	HUVEC	blood vessel
45	chr2:11596600-11602400	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr2:11596600-11603800	Weak transcription	Fetal Stomach	stomach
47	chr2:11596600-11604200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr2:11596800-11602200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr2:11596800-11602800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr2:11596800-11603600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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