Variant report

Variant	rs11175197
Chromosome Location	chr12:64268795-64268796
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:64268767-64268832	ProgFib	skin:	n/a	n/a
2	GATA2	chr12:64268653-64268913	SH-SY5Y	brain:	n/a	n/a
3	GATA3	chr12:64268567-64268947	T-47D	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000256571	TF binding region
RPL36AP41	TF binding region

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11175184	0.93[ASN][1000 genomes]
rs11175185	0.93[ASN][1000 genomes]
rs11175188	0.96[ASN][1000 genomes]
rs11175189	0.96[ASN][1000 genomes]
rs11833808	0.86[ASN][1000 genomes]
rs11835034	0.96[ASN][1000 genomes]
rs12228199	0.96[ASN][1000 genomes]
rs12229790	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17099866	0.86[ASN][1000 genomes]
rs2335884	0.96[ASN][1000 genomes]
rs35143986	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4072758	0.83[ASN][1000 genomes]
rs55642517	0.96[ASN][1000 genomes]
rs55655348	0.83[ASN][1000 genomes]
rs55760535	0.86[ASN][1000 genomes]
rs55907605	0.96[ASN][1000 genomes]
rs55930806	0.83[ASN][1000 genomes]
rs56028204	0.96[ASN][1000 genomes]
rs56080061	0.96[ASN][1000 genomes]
rs56264182	0.86[ASN][1000 genomes]
rs58424013	0.96[ASN][1000 genomes]
rs60031756	0.86[ASN][1000 genomes]
rs6581509	0.96[ASN][1000 genomes]
rs6581510	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs66856673	0.96[ASN][1000 genomes]
rs67401817	0.96[ASN][1000 genomes]
rs67684483	0.86[ASN][1000 genomes]
rs67830727	0.96[ASN][1000 genomes]
rs67880496	0.96[ASN][1000 genomes]
rs67892056	0.95[ASN][1000 genomes]
rs67993208	0.96[ASN][1000 genomes]
rs68188132	0.86[ASN][1000 genomes]
rs7136130	0.86[ASN][1000 genomes]
rs7294327	0.96[ASN][1000 genomes]
rs7301437	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7302672	0.84[ASN][1000 genomes]
rs7304340	0.96[ASN][1000 genomes]
rs7305893	0.85[ASN][1000 genomes]
rs7307108	0.83[ASN][1000 genomes]
rs7308850	0.82[ASN][1000 genomes]
rs7310327	0.96[ASN][1000 genomes]
rs7310329	0.83[ASN][1000 genomes]
rs7310575	0.96[ASN][1000 genomes]
rs7311611	0.83[ASN][1000 genomes]
rs73313479	0.86[ASN][1000 genomes]
rs73315321	0.95[ASN][1000 genomes]
rs73315365	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7953208	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2751110	chr12:63939733-64274680	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv832442	chr12:64228071-64442771	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64241000-64268800	Weak transcription	Lung	lung
2	chr12:64241000-64278800	Weak transcription	Fetal Stomach	stomach
3	chr12:64246200-64286400	Weak transcription	Fetal Brain Female	brain
4	chr12:64250200-64287200	Weak transcription	Aorta	Aorta
5	chr12:64256800-64271400	Weak transcription	Brain Angular Gyrus	brain
6	chr12:64256800-64276600	Weak transcription	HSMM	muscle
7	chr12:64256800-64282600	Weak transcription	Gastric	stomach
8	chr12:64257400-64270600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:64258800-64286200	Weak transcription	Fetal Intestine Small	intestine
10	chr12:64261200-64268800	Weak transcription	Stomach Mucosa	stomach
11	chr12:64263200-64270800	Weak transcription	Pancreas	Pancrea
12	chr12:64263600-64269000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:64263600-64278800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:64263800-64268800	Weak transcription	NHDF-Ad	bronchial
15	chr12:64263800-64276600	Weak transcription	NHLF	lung
16	chr12:64263800-64289200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:64264000-64268800	Weak transcription	Fetal Lung	lung
18	chr12:64264000-64271600	Weak transcription	Osteobl	bone
19	chr12:64264000-64276600	Weak transcription	HSMMtube	muscle
20	chr12:64264000-64279000	Weak transcription	NHEK	skin
21	chr12:64264000-64282600	Weak transcription	HMEC	breast
22	chr12:64264000-64294400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:64264200-64270200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:64264200-64271600	Weak transcription	Hela-S3	cervix
25	chr12:64264200-64282400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr12:64264600-64269200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:64265200-64269000	Weak transcription	Ovary	ovary
28	chr12:64266600-64268800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:64266800-64269000	Weak transcription	A549	lung
30	chr12:64266800-64270800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:64267000-64271800	Weak transcription	Fetal Heart	heart
32	chr12:64267600-64268800	Weak transcription	Esophagus	oesophagus
33	chr12:64267800-64269200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr12:64267800-64271200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:64268200-64269000	Enhancers	Fetal Brain Male	brain
36	chr12:64268200-64269200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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