Variant report

Variant	rs11050085
Chromosome Location	chr12:29317132-29317133
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:29312167..29314596-chr12:29316274..29317883,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10431273	0.90[EUR][1000 genomes]
rs10771491	0.82[ASN][1000 genomes]
rs10843341	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11050024	0.85[AMR][1000 genomes]
rs11050038	0.85[AMR][1000 genomes]
rs11050069	0.82[AMR][1000 genomes]
rs11050080	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11050082	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11050094	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11050097	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050105	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11050116	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11050119	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11050122	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11537408	0.85[AMR][1000 genomes]
rs12578244	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7136405	0.85[AMR][1000 genomes]
rs73073792	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7307501	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7308340	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7316695	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7954686	0.89[EUR][1000 genomes]
rs7959020	0.85[AMR][1000 genomes]
rs7969699	0.89[EUR][1000 genomes]
rs7972016	0.85[AMR][1000 genomes]
rs924108	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532233	chr12:29009388-29496179	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29303400-29317800	Weak transcription	Fetal Kidney	kidney
2	chr12:29306600-29324600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:29306800-29324400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:29308400-29324000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:29308400-29324400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:29308800-29317200	Weak transcription	Dnd41	blood
7	chr12:29310800-29317400	Weak transcription	NHEK	skin
8	chr12:29311600-29317600	Weak transcription	HMEC	breast
9	chr12:29312000-29317200	Weak transcription	Primary B cells from cord blood	blood
10	chr12:29312000-29317200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:29313000-29317200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:29313400-29317200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:29313400-29317200	Weak transcription	Spleen	Spleen
14	chr12:29313400-29319400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:29313600-29317200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:29313600-29317200	Weak transcription	Esophagus	oesophagus
17	chr12:29313600-29317200	Weak transcription	Right Atrium	heart
18	chr12:29313600-29317400	Weak transcription	Primary T cells from cord blood	blood
19	chr12:29313600-29317400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:29313600-29317400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr12:29313600-29317400	Weak transcription	Fetal Thymus	thymus
22	chr12:29313600-29317600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr12:29313800-29317200	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr12:29313800-29317200	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr12:29313800-29317400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr12:29313800-29317600	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr12:29315600-29317400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:29315800-29320200	Enhancers	Small Intestine	intestine
29	chr12:29316000-29317200	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr12:29316200-29317200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:29316200-29317800	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr12:29316200-29324200	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr12:29316200-29324400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:29316400-29317200	Weak transcription	Stomach Mucosa	stomach
35	chr12:29316600-29317200	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr12:29316600-29317400	Enhancers	Rectal Smooth Muscle	rectum
37	chr12:29316600-29317800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr12:29316800-29317600	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr12:29316800-29317600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr12:29316800-29318000	Enhancers	Primary hematopoietic stem cells	blood
41	chr12:29316800-29318200	Enhancers	Adipose Nuclei	Adipose
42	chr12:29316800-29318800	Enhancers	Colon Smooth Muscle	Colon
43	chr12:29316800-29323800	Enhancers	Fetal Intestine Large	intestine
44	chr12:29317000-29317400	Enhancers	GM12878-XiMat	blood
45	chr12:29317000-29317600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr12:29317000-29318000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr12:29317000-29318200	Flanking Active TSS	Duodenum Mucosa	Duodenum
48	chr12:29317000-29318400	Enhancers	Colonic Mucosa	Colon
49	chr12:29317000-29318400	Enhancers	K562	blood
50	chr12:29317000-29319000	Enhancers	HUVEC	blood vessel

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