Variant report

Variant	rs10106305
Chromosome Location	chr8:86380000-86380001
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:86378717-86382871	PBDE	blood:	n/a	n/a
2	SPI1	chr8:86379984-86380556	HL-60	blood:	n/a	n/a
3	MYC	chr8:86379948-86380491	NB4	blood:	n/a	chr8:86380121-86380131
4	MAX	chr8:86379919-86380552	NB4	blood:	n/a	chr8:86380121-86380131

No.	Distal block	Cell Line	Cell type
1	chr8:86379732..86382227-chr8:86385483..86388148,2	K562	blood:
2	chr8:86373913..86375746-chr8:86379695..86381418,2	K562	blood:
3	chr8:86376161..86378374-chr8:86378444..86380100,2	K562	blood:
4	chr8:86372586..86374669-chr8:86379787..86381546,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253549	TF binding region
ENSG00000104267	Chromatin interaction
ENSG00000253549	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018483	chr8:86142258-86547831	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1022463	chr8:86257031-86547831	Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv1804888	chr8:86263098-86986703	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv831377	chr8:86263107-86444141	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1028148	chr8:86310570-86553130	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	esv2761206	chr8:86310582-86468868	Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86375200-86380200	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr8:86375400-86380000	Active TSS	Brain Anterior Caudate	brain
3	chr8:86375400-86380000	Active TSS	Brain Cingulate Gyrus	brain
4	chr8:86375400-86380000	Active TSS	Brain Hippocampus Middle	brain
5	chr8:86375400-86380000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:86375400-86380600	Active TSS	Colonic Mucosa	Colon
7	chr8:86375400-86381000	Active TSS	Brain Angular Gyrus	brain
8	chr8:86375600-86380200	Active TSS	Gastric	stomach
9	chr8:86376400-86380600	Active TSS	Stomach Mucosa	stomach
10	chr8:86377000-86394600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr8:86377200-86381000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr8:86377600-86380000	Active TSS	Rectal Mucosa Donor 31	rectum
13	chr8:86377600-86380200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:86377600-86380600	Active TSS	Fetal Stomach	stomach
15	chr8:86377600-86390800	Weak transcription	Right Ventricle	heart
16	chr8:86377600-86392600	Weak transcription	Psoas Muscle	Psoas
17	chr8:86377600-86395600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr8:86377600-86399000	Weak transcription	Fetal Heart	heart
19	chr8:86377800-86380000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr8:86377800-86380000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:86377800-86380000	Weak transcription	Small Intestine	intestine
22	chr8:86377800-86380200	Active TSS	Fetal Kidney	kidney
23	chr8:86377800-86380200	Weak transcription	Left Ventricle	heart
24	chr8:86377800-86380400	Weak transcription	Fetal Intestine Small	intestine
25	chr8:86377800-86381800	Enhancers	Liver	Liver
26	chr8:86377800-86388200	Weak transcription	Adipose Nuclei	Adipose
27	chr8:86377800-86388400	Weak transcription	Lung	lung
28	chr8:86377800-86390200	Weak transcription	HMEC	breast
29	chr8:86378000-86380200	Weak transcription	Right Atrium	heart
30	chr8:86378000-86380400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr8:86378000-86380800	Weak transcription	Pancreas	Pancrea
32	chr8:86378000-86382000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:86378000-86382000	Weak transcription	Fetal Lung	lung
34	chr8:86378000-86384200	Weak transcription	Fetal Intestine Large	intestine
35	chr8:86378000-86385600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr8:86378000-86386600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr8:86378000-86388400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr8:86378000-86392800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr8:86378000-86392800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr8:86378000-86403000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr8:86378200-86381000	Active TSS	Brain Substantia Nigra	brain
42	chr8:86378200-86387600	Weak transcription	NHEK	skin
43	chr8:86378200-86388400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr8:86378200-86389400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr8:86378200-86390600	Weak transcription	Brain Germinal Matrix	brain
46	chr8:86378400-86380000	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr8:86378400-86380000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr8:86378400-86380200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr8:86378600-86387000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:86378800-86380600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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