Variant report

Variant	rs73325947
Chromosome Location	chr8:119044395-119044396
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10088107	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10088828	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10095646	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10099230	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10104745	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10106128	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1020916	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10216949	0.88[EUR][1000 genomes]
rs10505325	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10955850	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10955851	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10955852	0.83[EUR][1000 genomes]
rs11562725	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11562727	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11562814	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1188	0.90[EUR][1000 genomes]
rs12541849	0.91[ASN][1000 genomes]
rs12544344	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13264371	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13271950	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13277304	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13277610	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13282822	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2100617	0.91[ASN][1000 genomes]
rs2124959	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4876399	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6990802	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6997001	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7004377	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7357466	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7357586	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7357588	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7813805	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7819492	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7829981	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7832327	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7833710	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs881989	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9649944	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9650073	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[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	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1025002	chr8:118970940-119069418	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119035000-119044600	Enhancers	Liver	Liver
2	chr8:119036600-119046600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:119037200-119046600	Weak transcription	Brain Hippocampus Middle	brain
4	chr8:119037600-119046600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:119037600-119046600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr8:119038200-119046600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:119038400-119046400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:119038400-119046600	Weak transcription	Spleen	Spleen
9	chr8:119038400-119046800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:119038800-119046400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:119039200-119046400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:119039200-119046600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:119039200-119046800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:119039200-119046800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr8:119039200-119049000	Weak transcription	HUVEC	blood vessel
16	chr8:119040000-119045800	Weak transcription	Psoas Muscle	Psoas
17	chr8:119040000-119046600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:119040000-119046600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr8:119040400-119046600	Weak transcription	Fetal Heart	heart
20	chr8:119040600-119044600	Enhancers	Duodenum Mucosa	Duodenum
21	chr8:119040600-119052600	Weak transcription	Left Ventricle	heart
22	chr8:119041200-119045000	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr8:119041200-119046800	Enhancers	Osteobl	bone
24	chr8:119041400-119044400	Enhancers	Fetal Lung	lung
25	chr8:119041400-119046800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr8:119041400-119049800	Enhancers	NHDF-Ad	bronchial
27	chr8:119041600-119044600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:119041600-119044600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:119041600-119044800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:119041600-119044800	Enhancers	Fetal Intestine Small	intestine
31	chr8:119041600-119045800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr8:119041800-119044400	Enhancers	Stomach Mucosa	stomach
33	chr8:119041800-119044600	Enhancers	HSMM	muscle
34	chr8:119041800-119044600	Enhancers	NHLF	lung
35	chr8:119041800-119044800	Enhancers	Fetal Intestine Large	intestine
36	chr8:119041800-119049800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:119042000-119045400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:119042200-119046800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr8:119042400-119046600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr8:119042400-119052000	Weak transcription	Adipose Nuclei	Adipose
41	chr8:119042800-119045400	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr8:119043000-119044400	Enhancers	H1 Cell Line	embryonic stem cell
43	chr8:119043000-119044600	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr8:119043000-119044600	Enhancers	Fetal Muscle Leg	muscle
45	chr8:119043000-119044600	Enhancers	Small Intestine	intestine
46	chr8:119043000-119045200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:119043000-119045400	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr8:119043000-119048400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr8:119043200-119044600	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr8:119043200-119045400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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