Variant report

Variant	rs1496214
Chromosome Location	chr12:29310646-29310647
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10843333	0.82[AFR][1000 genomes]
rs10843334	0.82[AFR][1000 genomes]
rs12815733	0.85[AMR][1000 genomes]
rs12817351	0.85[AMR][1000 genomes]
rs12826306	0.85[AMR][1000 genomes]
rs1390536	0.82[AFR][1000 genomes]
rs34158620	0.85[AMR][1000 genomes]
rs34270636	0.85[AMR][1000 genomes]
rs34339523	0.85[AMR][1000 genomes]
rs34492685	0.85[AMR][1000 genomes]
rs34601700	0.85[AMR][1000 genomes]
rs34825983	0.85[AMR][1000 genomes]
rs34941964	0.85[AMR][1000 genomes]
rs34990495	0.85[AMR][1000 genomes]
rs35002558	0.85[AMR][1000 genomes]
rs35054952	0.85[AMR][1000 genomes]
rs35071007	0.85[AMR][1000 genomes]
rs35100017	0.85[AMR][1000 genomes]
rs35121122	0.85[AMR][1000 genomes]
rs35199330	0.85[AMR][1000 genomes]
rs35736217	0.85[AMR][1000 genomes]
rs35763553	0.85[AMR][1000 genomes]
rs35773649	0.85[AMR][1000 genomes]
rs35861754	0.85[AMR][1000 genomes]
rs71453726	0.85[AMR][1000 genomes]
rs71453728	0.85[AMR][1000 genomes]
rs71453729	0.85[AMR][1000 genomes]
rs7315584	0.85[AMR][1000 genomes]
rs7953699	1.00[AMR][1000 genomes]
rs7969058	0.85[AMR][1000 genomes]
rs7971655	0.85[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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29303400-29311400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:29303400-29312200	Weak transcription	Spleen	Spleen
3	chr12:29303400-29316600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:29303400-29317000	Weak transcription	Colonic Mucosa	Colon
5	chr12:29303400-29317800	Weak transcription	Fetal Kidney	kidney
6	chr12:29303600-29313400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:29304000-29312600	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr12:29306000-29312400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr12:29306400-29313000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr12:29306400-29313200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:29306600-29312600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:29306600-29312600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr12:29306600-29313000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr12:29306600-29324600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr12:29306800-29313200	Weak transcription	Fetal Thymus	thymus
16	chr12:29306800-29324400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr12:29308400-29312600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr12:29308400-29312600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr12:29308400-29312600	Weak transcription	K562	blood
20	chr12:29308400-29313200	Weak transcription	Brain Anterior Caudate	brain
21	chr12:29308400-29317000	Weak transcription	Fetal Intestine Small	intestine
22	chr12:29308400-29324000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:29308400-29324400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:29308600-29311200	Weak transcription	GM12878-XiMat	blood
25	chr12:29308600-29312600	Weak transcription	Small Intestine	intestine
26	chr12:29308800-29317200	Weak transcription	Dnd41	blood
27	chr12:29309200-29312600	Enhancers	HUVEC	blood vessel
28	chr12:29309400-29311400	Active TSS	Brain Hippocampus Middle	brain
29	chr12:29309400-29314400	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr12:29309600-29311600	Enhancers	Muscle Satellite Cultured Cells	--
31	chr12:29309800-29311000	Enhancers	Primary B cells from cord blood	blood
32	chr12:29309800-29311400	Enhancers	NHDF-Ad	bronchial
33	chr12:29309800-29312000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr12:29310200-29310800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:29310200-29310800	Enhancers	NHEK	skin
36	chr12:29310200-29311000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr12:29310200-29311000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:29310200-29311000	Enhancers	HMEC	breast
39	chr12:29310200-29311400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:29310200-29311600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:29310200-29311600	Enhancers	Osteobl	bone
42	chr12:29310200-29313400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:29310200-29313400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr12:29310200-29313800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr12:29310400-29310800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:29310400-29310800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr12:29310400-29310800	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr12:29310400-29310800	Enhancers	NHLF	lung
49	chr12:29310400-29311000	Enhancers	Placenta	Placenta
50	chr12:29310400-29311200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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