Variant report

Variant	rs1974695
Chromosome Location	chr12:11653775-11653776
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1005265	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10743960	0.91[YRI][hapmap];0.87[AFR][1000 genomes]
rs10772478	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12581399	0.95[CHB][hapmap]
rs17209646	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2908831	0.89[AFR][1000 genomes]
rs2908836	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2908838	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2951770	0.94[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2951775	0.83[YRI][hapmap]
rs2951783	0.90[YRI][hapmap]
rs2965703	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4237932	0.91[YRI][hapmap];0.81[AFR][1000 genomes]
rs888125	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs888127	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs963878	0.94[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758294	chr12:10969620-11714921	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	esv2759879	chr12:10969620-11714921	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
3	nsv428272	chr12:11069845-11714921	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	nsv557572	chr12:11575570-11693121	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv469112	chr12:11575570-11711690	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv557573	chr12:11575570-11711690	Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11652200-11655000	Active TSS	Brain Angular Gyrus	brain
2	chr12:11652600-11655200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:11652800-11653800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:11652800-11653800	Enhancers	Esophagus	oesophagus
5	chr12:11652800-11654000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
6	chr12:11652800-11654000	Enhancers	Fetal Brain Male	brain
7	chr12:11652800-11654000	Enhancers	Gastric	stomach
8	chr12:11652800-11654000	Enhancers	Pancreas	Pancrea
9	chr12:11652800-11654000	Enhancers	Right Ventricle	heart
10	chr12:11652800-11654200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:11652800-11654200	Bivalent/Poised TSS	Fetal Brain Female	brain
12	chr12:11653000-11653800	Enhancers	Lung	lung
13	chr12:11653000-11654000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr12:11653000-11654000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
15	chr12:11653000-11654000	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr12:11653000-11654000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:11653000-11654000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr12:11653000-11654000	Bivalent Enhancer	Fetal Thymus	thymus
19	chr12:11653200-11653800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:11653200-11653800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
21	chr12:11653200-11654000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:11653200-11654000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:11653200-11654000	Enhancers	Adipose Nuclei	Adipose
24	chr12:11653200-11654000	Bivalent Enhancer	Fetal Muscle Leg	muscle
25	chr12:11653200-11654000	Enhancers	Ovary	ovary
26	chr12:11653200-11654000	Bivalent Enhancer	Thymus	Thymus
27	chr12:11653200-11654000	ZNF genes & repeats	Spleen	Spleen
28	chr12:11653200-11656600	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr12:11653400-11653800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr12:11653400-11653800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr12:11653400-11654000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:11653400-11654000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr12:11653400-11654200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
34	chr12:11653400-11654600	Active TSS	Brain Hippocampus Middle	brain
35	chr12:11653400-11655200	Active TSS	Brain Anterior Caudate	brain
36	chr12:11653600-11653800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr12:11653600-11653800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:11653600-11653800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
39	chr12:11653600-11654000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
40	chr12:11653600-11654000	Enhancers	H1 Cell Line	embryonic stem cell
41	chr12:11653600-11654000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
42	chr12:11653600-11654000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr12:11653600-11654000	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr12:11653600-11654200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:11653600-11654800	Active TSS	Brain Cingulate Gyrus	brain

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