Variant report

Variant	rs11173095
Chromosome Location	chr12:59991655-59991656
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11173094	0.85[ASN][1000 genomes]
rs12230116	0.85[ASN][1000 genomes]
rs17122676	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122678	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7962682	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762982	chr12:59659871-60000135	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1042271	chr12:59668468-59993468	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1038467	chr12:59680717-59999008	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv541507	chr12:59680717-59999008	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1049084	chr12:59700333-59993468	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv869425	chr12:59746898-60479741	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	nsv899131	chr12:59942122-60124089	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1048949	chr12:59974039-60041477	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1038100	chr12:59983391-60018745	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59988800-59991800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr12:59989000-59992000	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr12:59989200-59991800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:59989200-59991800	Active TSS	NHDF-Ad	bronchial
5	chr12:59989200-59992000	Active TSS	Aorta	Aorta
6	chr12:59989200-59992000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:59989200-59992000	Active TSS	Right Atrium	heart
8	chr12:59990200-59991800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:59990200-59992000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr12:59990800-59992000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:59990800-59992000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr12:59990800-59992200	Flanking Active TSS	Fetal Heart	heart
13	chr12:59991000-59991800	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr12:59991000-59991800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr12:59991000-59991800	Flanking Active TSS	Dnd41	blood
16	chr12:59991000-60005000	Weak transcription	Lung	lung
17	chr12:59991200-59991800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:59991200-60004600	Weak transcription	Ovary	ovary
19	chr12:59991400-59991800	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr12:59991400-59991800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:59991400-59991800	Active TSS	Fetal Brain Male	brain
22	chr12:59991400-59991800	Active TSS	Fetal Brain Female	brain
23	chr12:59991400-59991800	Enhancers	HMEC	breast
24	chr12:59991400-59991800	Enhancers	HSMMtube	muscle
25	chr12:59991400-59991800	Enhancers	NHEK	skin
26	chr12:59991400-59992000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr12:59991400-59992000	Enhancers	Brain Substantia Nigra	brain
28	chr12:59991400-59992000	Enhancers	Colon Smooth Muscle	Colon
29	chr12:59991400-59992000	Enhancers	NH-A	brain
30	chr12:59991400-59992200	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr12:59991400-59992200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:59991400-59992200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr12:59991400-59992600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr12:59991400-59992800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr12:59991400-59992800	Weak transcription	Small Intestine	intestine
36	chr12:59991400-59993400	Weak transcription	Right Ventricle	heart
37	chr12:59991400-59994000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr12:59991400-59994800	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr12:59991400-59994800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr12:59991400-59995400	Weak transcription	Psoas Muscle	Psoas
41	chr12:59991400-59998800	Weak transcription	Left Ventricle	heart
42	chr12:59991400-60004600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr12:59991400-60004600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr12:59991400-60004600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr12:59991400-60005000	Weak transcription	Pancreas	Pancrea
46	chr12:59991400-60009400	Weak transcription	Gastric	stomach
47	chr12:59991600-59991800	Flanking Active TSS	GM12878-XiMat	blood
48	chr12:59991600-59991800	Flanking Active TSS	Hela-S3	cervix
49	chr12:59991600-59992000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:59991600-59992000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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