Variant report

Variant	rs11854193
Chromosome Location	chr15:77458136-77458137
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11072643	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1125617	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11630689	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11632941	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11639314	0.83[ASN][1000 genomes]
rs11853287	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11853460	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11857294	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11858641	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12443386	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12900433	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12901297	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12904088	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12907847	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12908262	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12909924	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12913233	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12914128	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12916731	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1446312	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1823100	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1867779	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2175941	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3743478	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3743479	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4243045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4414462	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4886511	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4886849	0.81[EUR][1000 genomes]
rs4886850	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4886856	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62008452	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7163503	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7177533	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8028571	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3440794	chr15:76764595-77571114	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1040852	chr15:77160237-78137541	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1045376	chr15:77354671-77801487	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv542443	chr15:77354671-77801487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	esv1832234	chr15:77451350-77694607	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77427600-77460600	Weak transcription	Right Ventricle	heart
2	chr15:77434200-77460400	Weak transcription	Fetal Brain Male	brain
3	chr15:77437000-77471200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr15:77438400-77461000	Weak transcription	NH-A	brain
5	chr15:77438600-77461400	Weak transcription	Aorta	Aorta
6	chr15:77438600-77469000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr15:77438600-77470800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr15:77439800-77460600	Weak transcription	HSMMtube	muscle
9	chr15:77444200-77460600	Weak transcription	NHEK	skin
10	chr15:77445200-77461000	Weak transcription	Small Intestine	intestine
11	chr15:77449000-77465200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr15:77450000-77460600	Weak transcription	Left Ventricle	heart
13	chr15:77450400-77471200	Weak transcription	Fetal Muscle Leg	muscle
14	chr15:77450600-77471200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr15:77450800-77471200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr15:77451000-77466000	Weak transcription	Brain Substantia Nigra	brain
17	chr15:77451000-77468800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr15:77451000-77470800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr15:77451000-77470800	Weak transcription	Brain Hippocampus Middle	brain
20	chr15:77451000-77471200	Weak transcription	HSMM	muscle
21	chr15:77451000-77478800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr15:77451200-77460200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr15:77451200-77466000	Weak transcription	Brain Anterior Caudate	brain
24	chr15:77451200-77471800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr15:77451200-77491800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr15:77451400-77471200	Weak transcription	NHDF-Ad	bronchial
27	chr15:77452200-77458400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr15:77452400-77469000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr15:77453000-77460800	Weak transcription	Lung	lung
30	chr15:77453800-77461800	Weak transcription	Colonic Mucosa	Colon
31	chr15:77454000-77459200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr15:77454000-77459800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr15:77454000-77460400	Weak transcription	Fetal Heart	heart
34	chr15:77454000-77460600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr15:77454000-77460800	Weak transcription	Osteobl	bone
36	chr15:77454000-77465200	Weak transcription	Stomach Mucosa	stomach
37	chr15:77454000-77466000	Weak transcription	Fetal Kidney	kidney
38	chr15:77454000-77470000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr15:77454000-77471200	Weak transcription	NHLF	lung
40	chr15:77454000-77472400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr15:77454200-77459800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr15:77454200-77459800	Weak transcription	Fetal Lung	lung
43	chr15:77454200-77465200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr15:77454200-77469600	Weak transcription	HUVEC	blood vessel
45	chr15:77454200-77471200	Weak transcription	Placenta	Placenta
46	chr15:77454600-77460400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr15:77454800-77460200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr15:77454800-77465200	Weak transcription	Fetal Intestine Small	intestine
49	chr15:77454800-77465400	Weak transcription	Fetal Intestine Large	intestine
50	chr15:77454800-77471200	Weak transcription	Primary T cells fromperipheralblood	blood

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