Variant report

Variant	rs35708989
Chromosome Location	chr12:29317986-29317987
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10843325	1.00[AMR][1000 genomes]
rs12811417	1.00[EUR][1000 genomes]
rs12815733	1.00[EUR][1000 genomes]
rs12816534	1.00[EUR][1000 genomes]
rs12817351	1.00[EUR][1000 genomes]
rs12819686	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12820515	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12826306	1.00[EUR][1000 genomes]
rs12831837	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12832977	1.00[EUR][1000 genomes]
rs34064202	1.00[EUR][1000 genomes]
rs34158620	1.00[EUR][1000 genomes]
rs34170651	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34237455	1.00[EUR][1000 genomes]
rs34270636	1.00[EUR][1000 genomes]
rs34339523	1.00[EUR][1000 genomes]
rs34391841	1.00[EUR][1000 genomes]
rs34492685	1.00[EUR][1000 genomes]
rs34526565	1.00[EUR][1000 genomes]
rs34572599	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34601700	1.00[EUR][1000 genomes]
rs34624113	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34685180	1.00[EUR][1000 genomes]
rs34690032	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34825983	1.00[EUR][1000 genomes]
rs34879577	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34941964	1.00[EUR][1000 genomes]
rs34990495	1.00[EUR][1000 genomes]
rs35002558	1.00[EUR][1000 genomes]
rs35039649	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35042869	1.00[EUR][1000 genomes]
rs35054952	1.00[EUR][1000 genomes]
rs35071007	1.00[EUR][1000 genomes]
rs35100017	1.00[EUR][1000 genomes]
rs35121122	1.00[EUR][1000 genomes]
rs35195316	1.00[EUR][1000 genomes]
rs35199330	1.00[EUR][1000 genomes]
rs35426167	1.00[EUR][1000 genomes]
rs35447364	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35736217	1.00[EUR][1000 genomes]
rs35763553	1.00[EUR][1000 genomes]
rs35773649	1.00[EUR][1000 genomes]
rs35776525	1.00[EUR][1000 genomes]
rs35779561	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35861754	1.00[EUR][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]
rs71453725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71453726	1.00[EUR][1000 genomes]
rs71453728	1.00[EUR][1000 genomes]
rs71453729	1.00[EUR][1000 genomes]
rs7315584	1.00[EUR][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]
rs7955386	1.00[EUR][1000 genomes]
rs7972299	1.00[EUR][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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29306600-29324600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:29306800-29324400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:29308400-29324000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:29308400-29324400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:29313400-29319400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:29315800-29320200	Enhancers	Small Intestine	intestine
7	chr12:29316200-29324200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr12:29316200-29324400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:29316800-29318000	Enhancers	Primary hematopoietic stem cells	blood
10	chr12:29316800-29318200	Enhancers	Adipose Nuclei	Adipose
11	chr12:29316800-29318800	Enhancers	Colon Smooth Muscle	Colon
12	chr12:29316800-29323800	Enhancers	Fetal Intestine Large	intestine
13	chr12:29317000-29318000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr12:29317000-29318200	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr12:29317000-29318400	Enhancers	Colonic Mucosa	Colon
16	chr12:29317000-29318400	Enhancers	K562	blood
17	chr12:29317000-29319000	Enhancers	HUVEC	blood vessel
18	chr12:29317000-29320800	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr12:29317000-29324000	Enhancers	Fetal Intestine Small	intestine
20	chr12:29317200-29318000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:29317200-29318000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
22	chr12:29317200-29318200	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr12:29317200-29318200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:29317200-29318200	Enhancers	Dnd41	blood
25	chr12:29317200-29318400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:29317200-29318400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr12:29317200-29318400	Enhancers	NHLF	lung
28	chr12:29317200-29318600	Enhancers	Primary B cells from peripheral blood	blood
29	chr12:29317200-29318800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:29317200-29318800	Enhancers	Stomach Mucosa	stomach
31	chr12:29317200-29319000	Enhancers	Primary B cells from cord blood	blood
32	chr12:29317400-29318200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:29317400-29318200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:29317400-29318200	Enhancers	NH-A	brain
35	chr12:29317400-29318400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:29317400-29318400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr12:29317400-29318400	Enhancers	NHDF-Ad	bronchial
38	chr12:29317400-29318400	Enhancers	NHEK	skin
39	chr12:29317400-29318600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr12:29317400-29318800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr12:29317400-29319000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr12:29317600-29318000	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr12:29317600-29318200	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr12:29317600-29318200	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr12:29317600-29318200	Enhancers	HMEC	breast
46	chr12:29317600-29318200	Enhancers	HSMM	muscle
47	chr12:29317600-29318400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr12:29317600-29318400	Enhancers	Fetal Lung	lung
49	chr12:29317600-29318800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr12:29317600-29322000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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