Variant report

Variant	rs60296517
Chromosome Location	chr8:123800499-123800500
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:123799517..123801271-chr8:123837265..123839235,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10505426	1.00[EUR][1000 genomes]
rs11990273	1.00[EUR][1000 genomes]
rs16897554	1.00[EUR][1000 genomes]
rs16897576	1.00[EUR][1000 genomes]
rs1992669	1.00[EUR][1000 genomes]
rs6988421	1.00[EUR][1000 genomes]
rs6993388	1.00[EUR][1000 genomes]
rs7008874	1.00[EUR][1000 genomes]
rs73331728	1.00[EUR][1000 genomes]
rs73331733	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:123795200-123806600	Weak transcription	Small Intestine	intestine
2	chr8:123795400-123807400	Weak transcription	Stomach Mucosa	stomach
3	chr8:123795400-123809600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:123795600-123800800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:123795600-123800800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr8:123795600-123801000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:123795600-123801000	Weak transcription	Ovary	ovary
8	chr8:123795600-123807200	Weak transcription	Right Atrium	heart
9	chr8:123795600-123810600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:123795800-123800600	Genic enhancers	Primary T cells fromperipheralblood	blood
11	chr8:123795800-123800800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr8:123795800-123801200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:123795800-123801200	Weak transcription	HMEC	breast
14	chr8:123795800-123801800	Enhancers	Brain Substantia Nigra	brain
15	chr8:123795800-123805200	Weak transcription	Psoas Muscle	Psoas
16	chr8:123795800-123810200	Weak transcription	NHEK	skin
17	chr8:123795800-123810400	Weak transcription	HSMM	muscle
18	chr8:123795800-123810600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr8:123795800-123811400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr8:123796000-123800600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
21	chr8:123796000-123800800	Weak transcription	Fetal Brain Female	brain
22	chr8:123796000-123801000	Weak transcription	NHLF	lung
23	chr8:123796000-123801800	Weak transcription	Colon Smooth Muscle	Colon
24	chr8:123797200-123807200	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr8:123797400-123803600	Genic enhancers	HepG2	liver
26	chr8:123797400-123805600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr8:123797400-123807400	Weak transcription	Aorta	Aorta
28	chr8:123797400-123807400	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr8:123797600-123800800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr8:123797600-123800800	Weak transcription	Fetal Lung	lung
31	chr8:123797600-123801600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:123797600-123801800	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr8:123797600-123807600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr8:123797600-123809600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr8:123797800-123800800	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr8:123797800-123801800	Enhancers	Fetal Heart	heart
37	chr8:123797800-123808600	Weak transcription	Colonic Mucosa	Colon
38	chr8:123798000-123800600	Weak transcription	Placenta	Placenta
39	chr8:123798000-123801800	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr8:123798200-123807000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr8:123798200-123810800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:123798400-123801200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr8:123798400-123801200	Enhancers	Primary hematopoietic stem cells	blood
44	chr8:123798400-123801800	Enhancers	Fetal Thymus	thymus
45	chr8:123798400-123802000	Enhancers	H1 Cell Line	embryonic stem cell
46	chr8:123798400-123802400	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr8:123798600-123800600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr8:123798600-123800800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr8:123798600-123800800	Enhancers	Brain Cingulate Gyrus	brain
50	chr8:123798600-123800800	Weak transcription	Fetal Stomach	stomach

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