Variant report

Variant	rs7016750
Chromosome Location	chr8:122174411-122174412
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:122174198..122176101-chr8:122438175..122440772,2	MCF-7	breast:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10100190	0.94[ASN][1000 genomes]
rs10101113	0.88[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs10109367	0.98[ASN][1000 genomes]
rs10109502	0.96[ASN][1000 genomes]
rs10109711	0.93[ASN][1000 genomes]
rs10956005	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997916	0.96[ASN][1000 genomes]
rs12547780	0.94[ASN][1000 genomes]
rs12681217	0.94[ASN][1000 genomes]
rs12681237	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12682637	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13252222	0.97[ASN][1000 genomes]
rs13262055	0.97[ASN][1000 genomes]
rs1368594	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1368595	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1368605	1.00[CHB][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1433392	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1504638	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1821323	0.92[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1836070	0.94[ASN][1000 genomes]
rs2019363	0.82[EUR][1000 genomes]
rs2082534	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2134932	0.94[ASN][1000 genomes]
rs2134933	0.94[ASN][1000 genomes]
rs2202382	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2202383	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2386265	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2386266	0.98[ASN][1000 genomes]
rs28738104	0.94[ASN][1000 genomes]
rs2891977	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34173371	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35517836	0.99[ASN][1000 genomes]
rs35627384	0.93[ASN][1000 genomes]
rs4145811	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4282580	1.00[ASN][1000 genomes]
rs4424262	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4560798	0.98[ASN][1000 genomes]
rs4610754	0.94[ASN][1000 genomes]
rs4870759	0.98[ASN][1000 genomes]
rs4870760	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4870761	0.99[ASN][1000 genomes]
rs4871163	0.92[ASN][1000 genomes]
rs4871164	0.94[ASN][1000 genomes]
rs4871165	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4871166	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4871167	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4871169	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61074667	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6469994	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67731008	0.81[EUR][1000 genomes]
rs6997513	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7016899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7017023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7017048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7357563	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
7	esv2752471	chr8:122173682-122174849	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv1021839	chr8:122173682-122240824	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:122167800-122176200	Weak transcription	Stomach Mucosa	stomach
2	chr8:122168000-122175400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:122168000-122175800	Weak transcription	HepG2	liver
4	chr8:122168000-122176800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:122168400-122175400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr8:122168400-122176200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr8:122170200-122175800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:122171000-122176400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:122171200-122174600	Weak transcription	HSMMtube	muscle
10	chr8:122171600-122174800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:122173200-122174600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:122173200-122174800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:122173200-122177200	Enhancers	NHDF-Ad	bronchial
14	chr8:122173600-122175400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:122174000-122174600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr8:122174000-122175800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr8:122174000-122175800	Enhancers	HSMM	muscle
18	chr8:122174200-122174600	Enhancers	H1 Cell Line	embryonic stem cell
19	chr8:122174200-122174600	Enhancers	H9 Cell Line	embryonic stem cell
20	chr8:122174200-122174600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr8:122174200-122174600	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr8:122174200-122174800	Enhancers	NHLF	lung
23	chr8:122174200-122175200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:122174200-122176000	Enhancers	Hela-S3	cervix
25	chr8:122174200-122177200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:122174200-122177800	Enhancers	HMEC	breast
27	chr8:122174400-122174600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:122174400-122174600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr8:122174400-122175000	Enhancers	NHEK	skin
30	chr8:122174400-122175800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:122174400-122175800	Enhancers	Osteobl	bone
32	chr8:122174400-122176000	Enhancers	A549	lung
33	chr8:122174400-122177400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:122174400-122177800	Enhancers	NH-A	brain
35	chr8:122174400-122178800	Enhancers	Fetal Lung	lung

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