Variant report

Variant	rs1428972
Chromosome Location	chr5:36604325-36604326
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10078147	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13436644	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2562575	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2562576	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2562577	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2562578	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2562579	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2562580	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2562581	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2731878	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2731883	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2731884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2731886	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3814068	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4591778	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv881025	chr5:36575021-36613053	Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
3	nsv830263	chr5:36576504-36755093	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2762516	chr5:36599385-36613201	Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36591200-36606200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:36597000-36605600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:36597000-36606200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr5:36597200-36605200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr5:36598400-36604400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:36600000-36605600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:36600200-36605600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr5:36600200-36606000	Enhancers	Brain Substantia Nigra	brain
9	chr5:36601000-36604600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr5:36601000-36605000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr5:36601000-36605800	Weak transcription	Adipose Nuclei	Adipose
12	chr5:36601200-36605400	Weak transcription	NHEK	skin
13	chr5:36601200-36605600	Weak transcription	HMEC	breast
14	chr5:36601200-36605800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:36601200-36606000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:36601400-36605200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr5:36601600-36604800	Weak transcription	NHDF-Ad	bronchial
18	chr5:36601800-36605200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr5:36601800-36605200	Enhancers	Brain Hippocampus Middle	brain
20	chr5:36601800-36605800	Weak transcription	Fetal Stomach	stomach
21	chr5:36601800-36606000	Weak transcription	NHLF	lung
22	chr5:36602000-36606200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:36602200-36605400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:36602200-36605800	Weak transcription	Fetal Brain Female	brain
25	chr5:36602200-36606200	Weak transcription	Pancreas	Pancrea
26	chr5:36602600-36604600	Enhancers	Brain Anterior Caudate	brain
27	chr5:36603000-36604400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr5:36603400-36605200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr5:36603400-36605400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:36603400-36605400	Weak transcription	Fetal Heart	heart
31	chr5:36603400-36605800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr5:36603400-36606000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr5:36603400-36606000	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr5:36603400-36606200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr5:36603400-36606200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr5:36603400-36606200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr5:36603600-36604600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr5:36603600-36605800	Weak transcription	Fetal Muscle Leg	muscle
39	chr5:36603600-36606200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr5:36603600-36606200	Weak transcription	Left Ventricle	heart
41	chr5:36604200-36605200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr5:36604200-36605200	Weak transcription	Brain Angular Gyrus	brain
43	chr5:36604200-36606000	Enhancers	Brain Cingulate Gyrus	brain

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