Variant report

Variant	rs72507596
Chromosome Location	chr8:104167401-104167402
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	chr8:104164036..104165922-chr8:104166497..104168627,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164929	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10088491	0.99[ASN][1000 genomes]
rs10955310	0.90[ASN][1000 genomes]
rs12056711	0.99[ASN][1000 genomes]
rs12545903	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13259545	0.99[ASN][1000 genomes]
rs13264626	0.98[ASN][1000 genomes]
rs13274504	0.96[ASN][1000 genomes]
rs1494276	0.98[ASN][1000 genomes]
rs1497449	0.87[ASN][1000 genomes]
rs1845430	0.99[ASN][1000 genomes]
rs2132867	0.83[AMR][1000 genomes]
rs2249256	0.80[ASN][1000 genomes]
rs2515176	0.83[AMR][1000 genomes]
rs2515190	0.87[ASN][1000 genomes]
rs2935579	0.87[ASN][1000 genomes]
rs3019159	0.80[AMR][1000 genomes]
rs4734071	0.87[ASN][1000 genomes]
rs4734689	0.87[ASN][1000 genomes]
rs4734690	0.87[ASN][1000 genomes]
rs61274078	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7001897	0.87[ASN][1000 genomes]
rs7014418	0.84[ASN][1000 genomes]
rs713369	0.85[EUR][1000 genomes]
rs72671377	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs953253	0.83[AMR][1000 genomes]
rs991312	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831413	chr8:104085141-104269789	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104154000-104177200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:104162000-104168000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr8:104162400-104169000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:104162800-104172600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:104164200-104168000	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr8:104164600-104168200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:104164600-104168600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:104164600-104169200	Enhancers	Brain Hippocampus Middle	brain
9	chr8:104165000-104167600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:104165000-104176400	Weak transcription	NHDF-Ad	bronchial
11	chr8:104165000-104176600	Weak transcription	Osteobl	bone
12	chr8:104165200-104167800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:104165400-104167800	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr8:104165400-104168600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr8:104165400-104170200	Weak transcription	NHLF	lung
16	chr8:104166000-104167600	Weak transcription	Left Ventricle	heart
17	chr8:104166200-104167600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr8:104166200-104179800	Weak transcription	Spleen	Spleen
19	chr8:104166400-104169800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr8:104166400-104170200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:104166600-104169200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:104166600-104169200	Enhancers	Brain Anterior Caudate	brain
23	chr8:104166600-104173200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr8:104166600-104178800	Weak transcription	Fetal Brain Male	brain
25	chr8:104166800-104167600	Weak transcription	Brain Angular Gyrus	brain
26	chr8:104166800-104167600	Weak transcription	Brain Substantia Nigra	brain
27	chr8:104166800-104168400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:104166800-104168600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:104167200-104167600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr8:104167400-104167600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:104167400-104167800	Enhancers	Lung	lung

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