Variant report

Variant	rs73530954
Chromosome Location	chr8:10008728-10008729
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	chr8:9910777..9912807-chr8:10008037..10009823,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260093	Chromatin interaction
ENSG00000175806	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10107929	0.93[EUR][1000 genomes]
rs12334964	0.92[EUR][1000 genomes]
rs12678468	0.90[EUR][1000 genomes]
rs12681932	0.81[ASN][1000 genomes]
rs13257766	0.92[EUR][1000 genomes]
rs13281788	0.94[EUR][1000 genomes]
rs17151209	0.95[EUR][1000 genomes]
rs1905628	0.86[EUR][1000 genomes]
rs28630503	0.85[ASN][1000 genomes]
rs34261818	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34405200	0.93[EUR][1000 genomes]
rs34697655	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35109120	0.93[EUR][1000 genomes]
rs4506211	0.93[EUR][1000 genomes]
rs4527876	0.92[EUR][1000 genomes]
rs6984070	0.92[EUR][1000 genomes]
rs6986307	0.90[EUR][1000 genomes]
rs6986977	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916493	chr8:9806580-10029482	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv610263	chr8:9941021-10090149	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1034343	chr8:9948342-10014155	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv831230	chr8:9953343-10139350	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1027280	chr8:9958259-10058984	Enhancers Active TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1021921	chr8:9958259-10212555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv1850829	chr8:9958321-10045451	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv890344	chr8:9995515-10060638	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv831231	chr8:10001214-10189094	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9996400-10020200	Weak transcription	Pancreas	Pancrea
2	chr8:9996600-10036200	Weak transcription	Primary T cells from cord blood	blood
3	chr8:9996800-10009600	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr8:9997000-10010200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:10002400-10009400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr8:10002600-10009600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr8:10003400-10026600	Weak transcription	Liver	Liver
8	chr8:10005400-10010200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:10005600-10009400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr8:10005600-10010200	Weak transcription	Right Atrium	heart
11	chr8:10007000-10008800	Enhancers	Fetal Brain Male	brain
12	chr8:10007400-10008800	Enhancers	Brain Germinal Matrix	brain
13	chr8:10007400-10010000	Enhancers	HUVEC	blood vessel
14	chr8:10007400-10010400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:10007400-10010400	Enhancers	Brain Hippocampus Middle	brain
16	chr8:10007400-10010600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr8:10007400-10010600	Enhancers	Adipose Nuclei	Adipose
18	chr8:10007400-10010600	Enhancers	Brain Substantia Nigra	brain
19	chr8:10007400-10010600	Enhancers	Fetal Intestine Large	intestine
20	chr8:10007400-10010800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:10007400-10011000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:10007400-10011000	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr8:10007600-10009400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:10007600-10010000	Enhancers	NH-A	brain
25	chr8:10007600-10010400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:10007600-10010400	Enhancers	Brain Anterior Caudate	brain
27	chr8:10007600-10010600	Enhancers	Brain Cingulate Gyrus	brain
28	chr8:10007800-10009400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr8:10008000-10009200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:10008000-10009200	Enhancers	Hela-S3	cervix
31	chr8:10008000-10009400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr8:10008000-10009600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr8:10008000-10013000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr8:10008200-10008800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:10008200-10010800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:10008200-10011000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:10008200-10021400	Weak transcription	Fetal Brain Female	brain
38	chr8:10008400-10008800	Enhancers	Spleen	Spleen
39	chr8:10008400-10009200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr8:10008400-10009200	Weak transcription	Brain Angular Gyrus	brain
41	chr8:10008400-10009400	Enhancers	Muscle Satellite Cultured Cells	--
42	chr8:10008400-10010000	Weak transcription	Fetal Intestine Small	intestine
43	chr8:10008400-10010200	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr8:10008400-10010600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr8:10008400-10010600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr8:10008400-10011000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:10008400-10011000	Enhancers	HMEC	breast
48	chr8:10008400-10011200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr8:10008400-10011200	Enhancers	NHEK	skin
50	chr8:10008600-10008800	Enhancers	Right Ventricle	heart

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