Variant report

Variant	rs12914128
Chromosome Location	chr15:77493875-77493876
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11072643	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1125617	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11630689	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11632941	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11639314	0.88[ASN][1000 genomes]
rs11853287	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11853460	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11854193	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11857294	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11858641	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12443386	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12900433	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12901297	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12904088	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12907847	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12908262	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12909924	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12913233	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12916731	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1446312	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1823100	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1867779	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2175941	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28584877	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3743478	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3743479	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4243045	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4414462	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4886511	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4886849	0.80[EUR][1000 genomes]
rs4886850	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4886856	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62008452	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6495237	0.80[ASN][1000 genomes]
rs7163503	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7177533	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8028571	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8037426	0.80[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	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
6	nsv916323	chr15:77485765-78121259	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77461600-77496800	Weak transcription	Lung	lung
2	chr15:77469800-77499200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr15:77471400-77505800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:77472400-77500800	Weak transcription	HSMMtube	muscle
5	chr15:77473600-77527800	Weak transcription	Placenta	Placenta
6	chr15:77479400-77494400	Weak transcription	HepG2	liver
7	chr15:77480400-77528000	Weak transcription	Fetal Stomach	stomach
8	chr15:77482000-77506200	Weak transcription	Pancreas	Pancrea
9	chr15:77482200-77504800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr15:77482200-77528000	Weak transcription	Spleen	Spleen
11	chr15:77484000-77518800	Weak transcription	Colon Smooth Muscle	Colon
12	chr15:77487400-77516800	Weak transcription	Fetal Heart	heart
13	chr15:77488400-77494000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr15:77488600-77494000	Weak transcription	Brain Angular Gyrus	brain
15	chr15:77491000-77500000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr15:77491200-77494200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr15:77491600-77494000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr15:77491600-77494000	Weak transcription	Brain Anterior Caudate	brain
19	chr15:77491600-77494200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr15:77491800-77494000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr15:77491800-77494200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr15:77491800-77494200	Weak transcription	Brain Substantia Nigra	brain
23	chr15:77491800-77494800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr15:77491800-77510600	Weak transcription	Primary B cells from peripheral blood	blood
25	chr15:77492000-77500800	Weak transcription	HUVEC	blood vessel
26	chr15:77492000-77505600	Weak transcription	Fetal Intestine Large	intestine
27	chr15:77492000-77516600	Weak transcription	NH-A	brain
28	chr15:77492000-77517000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr15:77492200-77494000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr15:77492200-77494000	Weak transcription	Brain Hippocampus Middle	brain
31	chr15:77492200-77495800	Weak transcription	Fetal Muscle Leg	muscle
32	chr15:77492200-77496600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr15:77492200-77499600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr15:77492200-77499800	Weak transcription	Dnd41	blood
35	chr15:77492200-77500000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr15:77492200-77505800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr15:77492200-77507000	Weak transcription	Left Ventricle	heart
38	chr15:77492200-77509400	Weak transcription	Ovary	ovary
39	chr15:77492200-77515000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr15:77492200-77516600	Weak transcription	Duodenum Mucosa	Duodenum
41	chr15:77492200-77516800	Weak transcription	Adipose Nuclei	Adipose
42	chr15:77492200-77516800	Weak transcription	NHLF	lung
43	chr15:77492200-77527400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr15:77492200-77527800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr15:77492200-77527800	Weak transcription	Fetal Muscle Trunk	muscle
46	chr15:77492200-77528200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr15:77492400-77494200	Weak transcription	Fetal Kidney	kidney
48	chr15:77492400-77494400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr15:77492400-77496400	Weak transcription	Osteobl	bone
50	chr15:77492400-77499600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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