Variant report

Variant	rs71453725
Chromosome Location	chr12:29317688-29317689
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: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10843325	1.00[AMR][1000 genomes]
rs12819686	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12820515	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12831837	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34170651	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34572599	1.00[AMR][1000 genomes]
rs34624113	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34690032	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34879577	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35039649	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35447364	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35708989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35779561	0.88[AFR][1000 genomes]
rs55710291	1.00[AMR][1000 genomes]
rs55880276	1.00[AMR][1000 genomes]
rs56269416	1.00[AMR][1000 genomes]
rs57106561	1.00[AMR][1000 genomes]
rs59663308	1.00[AMR][1000 genomes]
rs60656521	1.00[AMR][1000 genomes]
rs6487777	1.00[AMR][1000 genomes]
rs74076456	1.00[AMR][1000 genomes]
rs74076489	1.00[AMR][1000 genomes]
rs74076501	1.00[AMR][1000 genomes]
rs74077035	1.00[AMR][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:72 , 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	chr12:29313400-29319400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:29315800-29320200	Enhancers	Small Intestine	intestine
8	chr12:29316200-29317800	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr12:29316200-29324200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr12:29316200-29324400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:29316600-29317800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:29316800-29318000	Enhancers	Primary hematopoietic stem cells	blood
13	chr12:29316800-29318200	Enhancers	Adipose Nuclei	Adipose
14	chr12:29316800-29318800	Enhancers	Colon Smooth Muscle	Colon
15	chr12:29316800-29323800	Enhancers	Fetal Intestine Large	intestine
16	chr12:29317000-29318000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr12:29317000-29318200	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr12:29317000-29318400	Enhancers	Colonic Mucosa	Colon
19	chr12:29317000-29318400	Enhancers	K562	blood
20	chr12:29317000-29319000	Enhancers	HUVEC	blood vessel
21	chr12:29317000-29320800	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr12:29317000-29324000	Enhancers	Fetal Intestine Small	intestine
23	chr12:29317200-29317800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:29317200-29317800	Enhancers	Primary T cells fromperipheralblood	blood
25	chr12:29317200-29317800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:29317200-29317800	Enhancers	Fetal Muscle Leg	muscle
27	chr12:29317200-29317800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
28	chr12:29317200-29317800	Enhancers	Right Atrium	heart
29	chr12:29317200-29317800	Enhancers	Right Ventricle	heart
30	chr12:29317200-29317800	Enhancers	Spleen	Spleen
31	chr12:29317200-29318000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:29317200-29318000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
33	chr12:29317200-29318200	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr12:29317200-29318200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:29317200-29318200	Enhancers	Dnd41	blood
36	chr12:29317200-29318400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:29317200-29318400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr12:29317200-29318400	Enhancers	NHLF	lung
39	chr12:29317200-29318600	Enhancers	Primary B cells from peripheral blood	blood
40	chr12:29317200-29318800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:29317200-29318800	Enhancers	Stomach Mucosa	stomach
42	chr12:29317200-29319000	Enhancers	Primary B cells from cord blood	blood
43	chr12:29317400-29317800	Enhancers	Primary T cells from cord blood	blood
44	chr12:29317400-29317800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:29317400-29317800	Enhancers	Fetal Stomach	stomach
46	chr12:29317400-29317800	Enhancers	Fetal Thymus	thymus
47	chr12:29317400-29317800	Flanking Active TSS	Rectal Smooth Muscle	rectum
48	chr12:29317400-29317800	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr12:29317400-29317800	Flanking Active TSS	GM12878-XiMat	blood
50	chr12:29317400-29318200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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