Variant report

Variant	rs10843336
Chromosome Location	chr12:29312193-29312194
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	chr12:29301930..29304912-chr12:29311459..29315491,4	K562	blood:
2	chr12:29312167..29314596-chr12:29316274..29317883,2	K562	blood:

Variant related genes	Relation type
ENSG00000064763	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10843330	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10843331	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10843332	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10843333	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10843334	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10843338	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11050046	0.82[EUR][1000 genomes]
rs11050076	0.86[EUR][1000 genomes]
rs11050077	0.86[EUR][1000 genomes]
rs11050078	0.84[EUR][1000 genomes]
rs11050095	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11050096	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11050103	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11050113	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11050125	0.92[EUR][1000 genomes]
rs11050129	0.92[EUR][1000 genomes]
rs12306316	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12581588	0.92[EUR][1000 genomes]
rs1390536	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1390537	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1587186	0.82[EUR][1000 genomes]
rs34844277	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73071989	0.86[EUR][1000 genomes]
rs7309466	0.97[EUR][1000 genomes];0.92[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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29303400-29312200	Weak transcription	Spleen	Spleen
2	chr12:29303400-29316600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:29303400-29317000	Weak transcription	Colonic Mucosa	Colon
4	chr12:29303400-29317800	Weak transcription	Fetal Kidney	kidney
5	chr12:29303600-29313400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:29304000-29312600	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr12:29306000-29312400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr12:29306400-29313000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr12:29306400-29313200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:29306600-29312600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:29306600-29312600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr12:29306600-29313000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr12:29306600-29324600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:29306800-29313200	Weak transcription	Fetal Thymus	thymus
15	chr12:29306800-29324400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr12:29308400-29312600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr12:29308400-29312600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr12:29308400-29312600	Weak transcription	K562	blood
19	chr12:29308400-29313200	Weak transcription	Brain Anterior Caudate	brain
20	chr12:29308400-29317000	Weak transcription	Fetal Intestine Small	intestine
21	chr12:29308400-29324000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:29308400-29324400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:29308600-29312600	Weak transcription	Small Intestine	intestine
24	chr12:29308800-29317200	Weak transcription	Dnd41	blood
25	chr12:29309200-29312600	Enhancers	HUVEC	blood vessel
26	chr12:29309400-29314400	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr12:29310200-29313400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:29310200-29313400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:29310200-29313800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr12:29310600-29312400	Enhancers	Adipose Nuclei	Adipose
31	chr12:29310800-29317400	Weak transcription	NHEK	skin
32	chr12:29311000-29313600	Enhancers	Primary hematopoietic stem cells	blood
33	chr12:29311400-29312600	Enhancers	Placenta	Placenta
34	chr12:29311400-29313000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr12:29311600-29312600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:29311600-29312600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr12:29311600-29313200	Weak transcription	Right Atrium	heart
38	chr12:29311600-29317600	Weak transcription	HMEC	breast
39	chr12:29312000-29313600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr12:29312000-29313600	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr12:29312000-29317200	Weak transcription	Primary B cells from cord blood	blood
42	chr12:29312000-29317200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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