Variant report

Variant	rs2325821
Chromosome Location	chr8:118966144-118966145
allele	A/G
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:35)

rs_ID	r²[population]
rs10087446	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10097196	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10102745	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10105797	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10955846	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13256042	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13260665	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1462985	0.83[ASN][1000 genomes]
rs1466429	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1542519	0.80[ASN][1000 genomes]
rs1564132	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2008799	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2199545	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2219724	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2325820	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2447535	0.88[ASN][1000 genomes]
rs2447536	0.83[ASN][1000 genomes]
rs2447537	0.83[ASN][1000 genomes]
rs2447538	0.82[ASN][1000 genomes]
rs2447539	0.83[ASN][1000 genomes]
rs2447540	0.83[ASN][1000 genomes]
rs2447541	0.83[ASN][1000 genomes]
rs2514719	0.83[ASN][1000 genomes]
rs2514720	0.85[ASN][1000 genomes]
rs3101574	0.81[ASN][1000 genomes]
rs4876777	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4876781	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4876782	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4876783	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4876784	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7815972	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7818831	0.87[EUR][1000 genomes]
rs7840309	0.81[ASN][1000 genomes]
rs958381	0.81[ASN][1000 genomes]
rs9643120	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv1032355	chr8:118896733-119003223	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv465785	chr8:118901928-118970300	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv612046	chr8:118901928-118970300	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118956600-118968000	Weak transcription	Placenta	Placenta
2	chr8:118959000-118966400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:118959000-118967800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:118959000-118967800	Weak transcription	Lung	lung
5	chr8:118959000-118968000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr8:118959200-118968000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr8:118959400-118968400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:118959400-118968800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr8:118959600-118968400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:118959800-118968400	Weak transcription	Fetal Muscle Leg	muscle
11	chr8:118960200-118966200	Enhancers	Liver	Liver
12	chr8:118960200-118967200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr8:118960600-118969200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:118960600-118971200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:118960800-118966600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr8:118961000-118966600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr8:118961200-118966600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr8:118961200-118969200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:118961400-118967600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr8:118961400-118969000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr8:118962400-118967200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr8:118962800-118966400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:118962800-118969200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr8:118963000-118967200	Weak transcription	Fetal Heart	heart
25	chr8:118963000-118967800	Weak transcription	Small Intestine	intestine
26	chr8:118963000-118968000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr8:118963800-118968600	Weak transcription	Stomach Mucosa	stomach
28	chr8:118964000-118966400	Weak transcription	Aorta	Aorta
29	chr8:118964000-118968200	Weak transcription	Fetal Intestine Large	intestine
30	chr8:118964000-118968400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr8:118964200-118967000	Weak transcription	HMEC	breast
32	chr8:118964200-118967000	Weak transcription	NH-A	brain
33	chr8:118964200-118967800	Weak transcription	HSMMtube	muscle
34	chr8:118964200-118968000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr8:118964200-118968200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:118964400-118966800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr8:118964400-118967200	Weak transcription	Fetal Lung	lung
38	chr8:118964400-118967200	Weak transcription	HUVEC	blood vessel
39	chr8:118964800-118967000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr8:118965000-118966400	Weak transcription	HSMM	muscle
41	chr8:118965000-118968400	Weak transcription	Fetal Intestine Small	intestine
42	chr8:118965200-118968400	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr8:118965200-118970200	Weak transcription	HepG2	liver
44	chr8:118965400-118967000	Enhancers	Adipose Nuclei	Adipose
45	chr8:118965400-118968000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:118965400-118968600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr8:118965400-118969200	Enhancers	Osteobl	bone
48	chr8:118965600-118966600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:118965600-118966800	Enhancers	Right Ventricle	heart
50	chr8:118965600-118968200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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