Variant report

Variant	rs73056193
Chromosome Location	chr12:12112046-12112047
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11614705	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11614722	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3020811	0.96[EUR][1000 genomes]
rs4406908	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73056129	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73056196	1.00[AMR][1000 genomes];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	nsv832331	chr12:11925095-12114451	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv898804	chr12:12058411-12202173	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12103400-12112200	Weak transcription	Pancreas	Pancrea
2	chr12:12110800-12112400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:12110800-12112600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:12111000-12112200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr12:12111000-12112200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:12111000-12112400	Enhancers	NHEK	skin
7	chr12:12111000-12112600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:12111000-12112600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr12:12111000-12112600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:12111000-12112600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:12111000-12112600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:12111000-12112600	Enhancers	Fetal Thymus	thymus
13	chr12:12111000-12112600	Enhancers	HMEC	breast
14	chr12:12111000-12112800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:12111000-12112800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:12111000-12112800	Enhancers	HUVEC	blood vessel
17	chr12:12111200-12112200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:12111200-12112200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:12111200-12112600	Enhancers	NHLF	lung
20	chr12:12111200-12112800	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr12:12111200-12112800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:12111200-12112800	Enhancers	Dnd41	blood
23	chr12:12111400-12112200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr12:12111400-12112200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:12111400-12112200	Enhancers	Adipose Nuclei	Adipose
26	chr12:12111400-12112200	Flanking Active TSS	NH-A	brain
27	chr12:12111400-12112200	Flanking Active TSS	Osteobl	bone
28	chr12:12111400-12112400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:12111400-12112400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:12111400-12112400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr12:12111400-12112600	Enhancers	Primary T cells fromperipheralblood	blood
32	chr12:12111400-12112600	Enhancers	A549	lung
33	chr12:12111400-12112800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:12111400-12112800	Enhancers	Stomach Mucosa	stomach
35	chr12:12111400-12115200	Enhancers	Fetal Brain Male	brain
36	chr12:12111600-12112200	Enhancers	Primary hematopoietic stem cells	blood
37	chr12:12111600-12112200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr12:12111600-12112400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr12:12111600-12112600	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr12:12111600-12114600	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr12:12111800-12112200	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr12:12111800-12112200	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr12:12111800-12112400	Enhancers	HSMM	muscle
44	chr12:12111800-12112600	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr12:12111800-12112600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr12:12111800-12112600	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr12:12111800-12112800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr12:12111800-12112800	Enhancers	NHDF-Ad	bronchial
49	chr12:12111800-12113800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:12112000-12112200	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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