Variant report

Variant	rs4870761
Chromosome Location	chr8:122169869-122169870
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10100190	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10101113	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10109367	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10109502	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10109711	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10110256	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10956005	0.99[ASN][1000 genomes]
rs11997916	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12547780	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12681217	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12681237	0.95[ASN][1000 genomes]
rs12682637	0.95[ASN][1000 genomes]
rs13252222	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13262055	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1368594	1.00[ASN][1000 genomes]
rs1368595	0.98[ASN][1000 genomes]
rs1368605	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1433392	0.99[ASN][1000 genomes]
rs1504638	0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs1821323	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1836070	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2082534	0.99[ASN][1000 genomes]
rs2134932	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2134933	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2202382	0.99[ASN][1000 genomes]
rs2202383	0.99[ASN][1000 genomes]
rs2386265	0.99[ASN][1000 genomes]
rs2386266	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28738104	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2891977	0.99[ASN][1000 genomes]
rs34173371	0.95[ASN][1000 genomes]
rs35517836	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35627384	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4145811	0.99[ASN][1000 genomes]
rs4282580	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4424262	0.98[ASN][1000 genomes]
rs4560798	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4610754	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4870759	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4870760	0.99[ASN][1000 genomes]
rs4871163	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4871164	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4871165	0.95[ASN][1000 genomes]
rs4871166	0.99[ASN][1000 genomes]
rs4871167	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871169	0.97[ASN][1000 genomes]
rs61074667	0.98[ASN][1000 genomes]
rs6469994	0.99[ASN][1000 genomes]
rs6997513	0.99[ASN][1000 genomes]
rs7016750	0.99[ASN][1000 genomes]
rs7016899	0.99[ASN][1000 genomes]
rs7017023	0.99[ASN][1000 genomes]
rs7017048	0.99[ASN][1000 genomes]
rs7357563	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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	nsv465790	chr8:121853405-122185415	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv612114	chr8:121853405-122185415	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv891424	chr8:121873345-122393258	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv1844734	chr8:121928250-122283585	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3330574	chr8:122039099-122386130	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv891426	chr8:122078334-122393258	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:122167800-122170200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr8:122167800-122176200	Weak transcription	Stomach Mucosa	stomach
3	chr8:122168000-122173200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:122168000-122175400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:122168000-122175800	Weak transcription	HepG2	liver
6	chr8:122168000-122176800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:122168200-122170400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:122168400-122173000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:122168400-122173200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:122168400-122174200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr8:122168400-122174200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr8:122168400-122174200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr8:122168400-122175400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr8:122168400-122176200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr8:122168600-122170800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:122169000-122174000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr8:122169200-122174400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr8:122169400-122170600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:122169400-122170600	Enhancers	NHDF-Ad	bronchial
20	chr8:122169400-122170800	Enhancers	Osteobl	bone
21	chr8:122169400-122171200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr8:122169400-122171600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:122169400-122172200	Enhancers	HSMM	muscle
24	chr8:122169600-122171200	Enhancers	HSMMtube	muscle
25	chr8:122169800-122170200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:122169800-122170800	Enhancers	NHLF	lung
27	chr8:122169800-122171600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:122169800-122174200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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