Variant report

Variant	rs11050097
Chromosome Location	chr12:29325041-29325042
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10431273	0.90[EUR][1000 genomes]
rs10771491	0.82[ASN][1000 genomes]
rs10843341	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11050024	0.80[AMR][1000 genomes]
rs11050038	0.80[AMR][1000 genomes]
rs11050080	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11050082	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11050085	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050094	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11050105	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11050116	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11050119	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11050122	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11537408	0.80[AMR][1000 genomes]
rs12578244	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7136405	0.80[AMR][1000 genomes]
rs73073792	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7307501	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7308340	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7316695	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7954686	0.89[EUR][1000 genomes]
rs7959020	0.80[AMR][1000 genomes]
rs7969699	0.89[EUR][1000 genomes]
rs7972016	0.80[AMR][1000 genomes]
rs924108	0.94[AFR][1000 genomes];0.92[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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29317600-29340800	Weak transcription	Left Ventricle	heart
2	chr12:29317800-29326800	Weak transcription	Primary T cells from cord blood	blood
3	chr12:29318200-29326200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:29318400-29329600	Weak transcription	NHLF	lung
5	chr12:29321200-29325200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr12:29321800-29327000	Weak transcription	Small Intestine	intestine
7	chr12:29322400-29335600	Weak transcription	Gastric	stomach
8	chr12:29323000-29329600	Weak transcription	Adipose Nuclei	Adipose
9	chr12:29323000-29332400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:29323400-29327000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:29324000-29325400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
12	chr12:29324000-29325400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:29324000-29325600	ZNF genes & repeats	Fetal Intestine Small	intestine
14	chr12:29324000-29325800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:29324000-29326000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:29324000-29329600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr12:29324200-29325200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:29324200-29325200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:29324200-29325200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
20	chr12:29324400-29325200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
21	chr12:29324400-29325200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:29324400-29325200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:29324400-29325200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:29324400-29325200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
25	chr12:29324400-29325200	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr12:29324400-29325200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:29324400-29325200	ZNF genes & repeats	Fetal Intestine Large	intestine
28	chr12:29324400-29325200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
29	chr12:29324400-29325200	ZNF genes & repeats	Lung	lung
30	chr12:29324400-29325200	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr12:29324400-29325200	Genic enhancers	Spleen	Spleen
32	chr12:29324400-29325400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:29324400-29325600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
34	chr12:29324400-29325600	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr12:29324600-29325200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:29324600-29325200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr12:29324600-29325200	Strong transcription	Duodenum Mucosa	Duodenum
38	chr12:29324600-29325200	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr12:29324600-29325400	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr12:29324600-29325600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:29324600-29325600	Weak transcription	Thymus	Thymus
42	chr12:29325000-29328000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr12:29325000-29329200	Weak transcription	HUVEC	blood vessel

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