Variant report

Variant	rs73707537
Chromosome Location	chr8:122176839-122176840
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:122176632..122180030-chr8:122186675..122188884,3	MCF-7	breast:
2	chr8:122162088..122164640-chr8:122176142..122178606,2	MCF-7	breast:
3	chr8:122176462..122178583-chr8:122198285..122200494,2	MCF-7	breast:
4	chr8:121999522..122002650-chr8:122176393..122179691,3	MCF-7	breast:
5	chr8:122166497..122169768-chr8:122175078..122179332,4	MCF-7	breast:
6	chr8:122175923..122179015-chr8:122179931..122183812,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221644	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10956002	0.99[EUR][1000 genomes]
rs10956003	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10956004	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17201978	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17261452	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17262162	0.95[EUR][1000 genomes]
rs2019338	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28675872	0.97[EUR][1000 genomes]
rs4367550	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4584147	0.93[EUR][1000 genomes]
rs60715997	0.93[EUR][1000 genomes]
rs6984162	1.00[EUR][1000 genomes]
rs73320943	1.00[EUR][1000 genomes]
rs73320945	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:122173200-122177200	Enhancers	NHDF-Ad	bronchial
2	chr8:122174200-122177200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:122174200-122177800	Enhancers	HMEC	breast
4	chr8:122174400-122177400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:122174400-122177800	Enhancers	NH-A	brain
6	chr8:122174400-122178800	Enhancers	Fetal Lung	lung
7	chr8:122174600-122177600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr8:122174600-122177800	Enhancers	HSMMtube	muscle
9	chr8:122174800-122177600	Weak transcription	HUVEC	blood vessel
10	chr8:122175400-122177000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr8:122175400-122177000	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr8:122175400-122177200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:122175400-122177200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr8:122175400-122178800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:122175800-122177000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr8:122175800-122177200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:122175800-122177200	Enhancers	Adipose Nuclei	Adipose
18	chr8:122175800-122177200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr8:122175800-122177800	Enhancers	Placenta	Placenta
20	chr8:122175800-122177800	Enhancers	NHLF	lung
21	chr8:122175800-122178000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:122175800-122178000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:122176000-122177000	Flanking Active TSS	Hela-S3	cervix
24	chr8:122176000-122177800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:122176200-122177000	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr8:122176200-122177000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr8:122176200-122178200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr8:122176200-122178200	Enhancers	Stomach Mucosa	stomach
29	chr8:122176400-122177000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:122176400-122177000	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr8:122176400-122177400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:122176400-122178000	Enhancers	HSMM	muscle
33	chr8:122176600-122177000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:122176600-122177000	Enhancers	A549	lung
35	chr8:122176600-122177800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr8:122176600-122178400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:122176800-122177000	Enhancers	H9 Cell Line	embryonic stem cell
38	chr8:122176800-122177000	Weak transcription	Fetal Intestine Small	intestine
39	chr8:122176800-122177000	Enhancers	Psoas Muscle	Psoas
40	chr8:122176800-122177000	Flanking Active TSS	Osteobl	bone
41	chr8:122176800-122177200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr8:122176800-122177200	Bivalent Enhancer	HepG2	liver
43	chr8:122176800-122177400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr8:122176800-122177800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr8:122176800-122177800	Weak transcription	Fetal Intestine Large	intestine
46	chr8:122176800-122178800	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr8:122176800-122179200	Weak transcription	Fetal Muscle Leg	muscle
48	chr8:122176800-122184600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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