Variant report

Variant	rs10112601
Chromosome Location	chr8:62494439-62494440
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	chr8:62488403..62489962-chr8:62494279..62497109,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1317265	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13250696	0.81[ASN][1000 genomes]
rs2350620	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28695823	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1027742	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv539633	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1021377	chr8:62214279-62596721	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv539634	chr8:62214279-62596721	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1029046	chr8:62224341-62535277	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv1032489	chr8:62450784-62555994	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv539635	chr8:62450784-62555994	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
10	nsv967596	chr8:62489340-62494513	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62411000-62505800	Weak transcription	Brain Angular Gyrus	brain
2	chr8:62414800-62503400	Weak transcription	Fetal Heart	heart
3	chr8:62449800-62503600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr8:62456600-62503800	Weak transcription	Stomach Mucosa	stomach
5	chr8:62457000-62496600	Weak transcription	Brain Hippocampus Middle	brain
6	chr8:62457000-62503000	Weak transcription	HSMMtube	muscle
7	chr8:62458000-62497000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr8:62460200-62495800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr8:62466800-62508600	Weak transcription	Pancreas	Pancrea
10	chr8:62468600-62549000	Weak transcription	Right Ventricle	heart
11	chr8:62474800-62496600	Weak transcription	Placenta	Placenta
12	chr8:62480000-62503600	Weak transcription	NHEK	skin
13	chr8:62484200-62503600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr8:62487000-62494800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:62489000-62502400	Weak transcription	Aorta	Aorta
16	chr8:62489000-62505000	Weak transcription	Fetal Brain Male	brain
17	chr8:62489000-62508200	Weak transcription	Left Ventricle	heart
18	chr8:62489200-62496600	Weak transcription	NHLF	lung
19	chr8:62489200-62505800	Weak transcription	Colon Smooth Muscle	Colon
20	chr8:62489200-62528800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr8:62492400-62497600	Weak transcription	Gastric	stomach
22	chr8:62493000-62494800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:62493000-62495000	Strong transcription	Osteobl	bone
24	chr8:62493000-62495400	Strong transcription	NH-A	brain
25	chr8:62493000-62508400	Weak transcription	Lung	lung
26	chr8:62493000-62508400	Weak transcription	Spleen	Spleen
27	chr8:62493200-62495200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:62493200-62505400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr8:62493200-62508200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:62493200-62512400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr8:62493400-62499400	Strong transcription	HSMM	muscle
32	chr8:62493400-62500400	Weak transcription	Brain Substantia Nigra	brain
33	chr8:62493600-62494800	Strong transcription	Liver	Liver
34	chr8:62493600-62495600	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr8:62493600-62496400	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr8:62493600-62496400	Weak transcription	Primary T cells from cord blood	blood
37	chr8:62493600-62504600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr8:62493600-62505200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr8:62493800-62494600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:62493800-62505600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr8:62494000-62495400	Genic enhancers	Adipose Nuclei	Adipose
42	chr8:62494000-62495400	Enhancers	HUVEC	blood vessel
43	chr8:62494000-62495400	Genic enhancers	NHDF-Ad	bronchial
44	chr8:62494000-62497400	Weak transcription	Ovary	ovary
45	chr8:62494000-62504000	Weak transcription	Fetal Stomach	stomach
46	chr8:62494200-62494600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr8:62494200-62494800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr8:62494200-62496200	Weak transcription	Hela-S3	cervix
49	chr8:62494200-62497200	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr8:62494200-62497600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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