Variant report

Variant	rs12916326
Chromosome Location	chr15:79054011-79054012
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11630236	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11633351	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11635870	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs11635931	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12286	0.91[ASN][1000 genomes]
rs12898323	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12898346	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12906653	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12916648	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1807006	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1809409	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1809419	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1809420	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1809423	0.87[EUR][1000 genomes]
rs1810165	0.88[EUR][1000 genomes]
rs3894351	0.83[EUR][1000 genomes]
rs3894352	0.82[EUR][1000 genomes]
rs4887090	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4887095	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4887096	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4887099	0.83[EUR][1000 genomes]
rs55834964	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs56195905	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs56354501	0.83[ASN][1000 genomes]
rs6495267	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7168391	0.85[EUR][1000 genomes]
rs7174367	0.82[AMR][1000 genomes]
rs7182642	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8031513	0.83[ASN][1000 genomes]
rs8043119	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs899984	0.83[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	nsv917303	chr15:78491050-79205255	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
2	nsv904431	chr15:79006442-79155088	Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv33573	chr15:79053484-79293881	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79040600-79060000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:79042800-79055400	Enhancers	Right Ventricle	heart
3	chr15:79043600-79077800	Weak transcription	Brain Germinal Matrix	brain
4	chr15:79044200-79059000	Enhancers	Fetal Muscle Trunk	muscle
5	chr15:79045000-79055800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr15:79045000-79059000	Enhancers	Fetal Muscle Leg	muscle
7	chr15:79046200-79054600	Enhancers	Fetal Heart	heart
8	chr15:79046400-79063200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:79047200-79054600	Enhancers	HSMMtube	muscle
10	chr15:79048200-79055200	Enhancers	Primary B cells from cord blood	blood
11	chr15:79048200-79057000	Enhancers	Primary B cells from peripheral blood	blood
12	chr15:79048600-79054600	Enhancers	Placenta	Placenta
13	chr15:79048600-79055000	Enhancers	Left Ventricle	heart
14	chr15:79049200-79055200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr15:79049200-79058600	Enhancers	Spleen	Spleen
16	chr15:79050000-79054400	Enhancers	HSMM	muscle
17	chr15:79050000-79055800	Weak transcription	Esophagus	oesophagus
18	chr15:79050000-79058600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr15:79050200-79056200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr15:79051000-79054800	Enhancers	Primary hematopoietic stem cells	blood
21	chr15:79051000-79054800	Enhancers	Adipose Nuclei	Adipose
22	chr15:79051600-79054600	Enhancers	Fetal Lung	lung
23	chr15:79051600-79055000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr15:79051800-79054600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr15:79051800-79054600	Enhancers	GM12878-XiMat	blood
26	chr15:79051800-79070600	Weak transcription	Fetal Brain Female	brain
27	chr15:79052000-79054200	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr15:79052000-79054600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr15:79052000-79054800	Enhancers	HUVEC	blood vessel
30	chr15:79052600-79055000	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr15:79052600-79055200	Enhancers	Primary T cells fromperipheralblood	blood
32	chr15:79052600-79056600	Weak transcription	Brain Substantia Nigra	brain
33	chr15:79052800-79070600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr15:79052800-79070800	Weak transcription	Ovary	ovary
35	chr15:79052800-79071000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr15:79053000-79054800	Enhancers	Fetal Thymus	thymus
37	chr15:79053200-79054200	Enhancers	Colonic Mucosa	Colon
38	chr15:79053200-79054600	Enhancers	Pancreas	Pancrea
39	chr15:79053200-79056200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr15:79053200-79056400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr15:79053200-79063200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr15:79053200-79063800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr15:79053200-79071000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr15:79053400-79054400	Enhancers	Dnd41	blood
45	chr15:79053400-79054600	Enhancers	Duodenum Mucosa	Duodenum
46	chr15:79053400-79054600	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr15:79053400-79054800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr15:79053400-79054800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr15:79053400-79054800	Enhancers	Thymus	Thymus
50	chr15:79053400-79055000	Enhancers	Right Atrium	heart

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