Variant report

Variant	rs11694643
Chromosome Location	chr2:10552927-10552928
allele	C/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10552687..10555850-chr2:10585657..10589524,6	K562	blood:
2	chr2:10551885..10553881-chr2:10561679..10563656,2	K562	blood:
3	chr2:10548741..10551044-chr2:10552688..10554394,2	K562	blood:
4	chr2:10408907..10411049-chr2:10550707..10552973,2	K562	blood:
5	chr2:10548229..10551901-chr2:10552572..10557970,6	K562	blood:
6	chr2:10483117..10484704-chr2:10552041..10554561,2	K562	blood:
7	chr2:10259957..10264310-chr2:10552122..10556376,5	MCF-7	breast:
8	chr2:10276192..10278788-chr2:10550662..10554322,4	K562	blood:
9	chr2:10552751..10557401-chr2:10586002..10589007,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000115758	Chromatin interaction
ENSG00000206633	Chromatin interaction
ENSG00000257135	Chromatin interaction
ENSG00000272524	Chromatin interaction
ENSG00000171848	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs13383055	0.95[ASN][1000 genomes]
rs13383253	0.95[ASN][1000 genomes]
rs17434886	0.90[ASN][1000 genomes]
rs2270303	0.90[ASN][1000 genomes]
rs3755261	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3755262	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3771123	1.00[ASN][1000 genomes]
rs3771126	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3771135	0.88[ASN][1000 genomes]
rs3771144	0.90[ASN][1000 genomes]
rs3771145	0.90[ASN][1000 genomes]
rs3771146	0.88[ASN][1000 genomes]
rs3821200	1.00[ASN][1000 genomes]
rs55961729	0.95[ASN][1000 genomes]
rs56156675	0.95[ASN][1000 genomes]
rs56382508	0.95[ASN][1000 genomes]
rs62128251	0.90[ASN][1000 genomes]
rs62128252	0.90[ASN][1000 genomes]
rs62128254	0.90[ASN][1000 genomes]
rs62130179	0.90[ASN][1000 genomes]
rs62130183	0.90[ASN][1000 genomes]
rs62130187	0.93[ASN][1000 genomes]
rs62130191	0.95[ASN][1000 genomes]
rs7579181	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7599203	0.90[ASN][1000 genomes]
rs7603265	0.95[ASN][1000 genomes]
rs7603352	0.95[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	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv873643	chr2:10535481-10583160	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv873644	chr2:10537347-10576424	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv873645	chr2:10537347-10612091	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
5	nsv1007185	chr2:10540386-10791743	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv873646	chr2:10550517-10612091	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10549000-10570400	Weak transcription	Psoas Muscle	Psoas
2	chr2:10549400-10553000	Weak transcription	HUVEC	blood vessel
3	chr2:10549400-10553600	Weak transcription	NHLF	lung
4	chr2:10549400-10554000	Weak transcription	Right Atrium	heart
5	chr2:10549400-10554000	Weak transcription	NHDF-Ad	bronchial
6	chr2:10549400-10554200	Weak transcription	Aorta	Aorta
7	chr2:10549400-10555000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:10549400-10562200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:10549400-10563400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:10549600-10553600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:10549600-10554000	Weak transcription	Left Ventricle	heart
12	chr2:10549600-10554200	Weak transcription	Brain Angular Gyrus	brain
13	chr2:10549600-10562200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:10549600-10572400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr2:10549800-10553600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:10549800-10553600	Weak transcription	Right Ventricle	heart
17	chr2:10549800-10553600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr2:10549800-10553800	Weak transcription	Brain Anterior Caudate	brain
19	chr2:10549800-10554000	Weak transcription	Brain Substantia Nigra	brain
20	chr2:10549800-10561200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr2:10549800-10562200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr2:10549800-10562600	Weak transcription	Esophagus	oesophagus
23	chr2:10549800-10563400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr2:10550000-10554800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:10550200-10553400	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr2:10550200-10571800	Weak transcription	Small Intestine	intestine
27	chr2:10550400-10555200	Strong transcription	Primary T cells from cord blood	blood
28	chr2:10550800-10553000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr2:10550800-10553000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr2:10550800-10554800	Enhancers	Colon Smooth Muscle	Colon
31	chr2:10550800-10555200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr2:10551000-10553400	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr2:10551000-10553600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr2:10551000-10554200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr2:10551200-10553000	Genic enhancers	Primary B cells from peripheral blood	blood
36	chr2:10551200-10553600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:10551200-10553600	Weak transcription	HSMMtube	muscle
38	chr2:10551200-10554400	Weak transcription	Fetal Brain Female	brain
39	chr2:10551200-10574800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:10551400-10553400	Weak transcription	Fetal Brain Male	brain
41	chr2:10551400-10553600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:10551400-10554000	Weak transcription	NH-A	brain
43	chr2:10551400-10564400	Weak transcription	Fetal Kidney	kidney
44	chr2:10551600-10553000	Weak transcription	HSMM	muscle
45	chr2:10551600-10554000	Weak transcription	Brain Germinal Matrix	brain
46	chr2:10551600-10554200	Weak transcription	Fetal Lung	lung
47	chr2:10551600-10555400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr2:10551600-10557800	Enhancers	Pancreas	Pancrea
49	chr2:10551800-10553400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:10551800-10553400	ZNF genes & repeats	A549	lung

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