Variant report

Variant	rs7002912
Chromosome Location	chr8:86380223-86380224
allele	C/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
5	GATA1	chr8:86380030-86380499	PBDE	blood:	n/a	n/a
6	BACH1	chr8:86380185-86380380	H1-hESC	embryonic stem cell:	n/a	n/a

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	chr8:86372586..86374669-chr8:86379787..86381546,2	MCF-7	breast:

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

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10453169	1.00[AMR][1000 genomes]
rs16913908	1.00[AMR][1000 genomes]
rs16913914	1.00[AMR][1000 genomes]
rs2228063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58830935	1.00[AMR][1000 genomes]
rs61454267	1.00[AMR][1000 genomes]
rs6605615	1.00[AMR][1000 genomes]
rs6605619	1.00[AMR][1000 genomes]
rs6981581	1.00[AMR][1000 genomes]
rs6984587	0.80[AFR][1000 genomes]
rs6992696	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6997572	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7003233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7007330	1.00[AMR][1000 genomes]
rs7016508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7815610	1.00[AMR][1000 genomes]
rs7820842	1.00[AMR][1000 genomes]
rs7827403	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86375400-86380600	Active TSS	Colonic Mucosa	Colon
2	chr8:86375400-86381000	Active TSS	Brain Angular Gyrus	brain
3	chr8:86376400-86380600	Active TSS	Stomach Mucosa	stomach
4	chr8:86377000-86394600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr8:86377200-86381000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr8:86377600-86380600	Active TSS	Fetal Stomach	stomach
7	chr8:86377600-86390800	Weak transcription	Right Ventricle	heart
8	chr8:86377600-86392600	Weak transcription	Psoas Muscle	Psoas
9	chr8:86377600-86395600	Weak transcription	Primary B cells from peripheral blood	blood
10	chr8:86377600-86399000	Weak transcription	Fetal Heart	heart
11	chr8:86377800-86380400	Weak transcription	Fetal Intestine Small	intestine
12	chr8:86377800-86381800	Enhancers	Liver	Liver
13	chr8:86377800-86388200	Weak transcription	Adipose Nuclei	Adipose
14	chr8:86377800-86388400	Weak transcription	Lung	lung
15	chr8:86377800-86390200	Weak transcription	HMEC	breast
16	chr8:86378000-86380400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr8:86378000-86380800	Weak transcription	Pancreas	Pancrea
18	chr8:86378000-86382000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:86378000-86382000	Weak transcription	Fetal Lung	lung
20	chr8:86378000-86384200	Weak transcription	Fetal Intestine Large	intestine
21	chr8:86378000-86385600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr8:86378000-86386600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr8:86378000-86388400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr8:86378000-86392800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:86378000-86392800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:86378000-86403000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr8:86378200-86381000	Active TSS	Brain Substantia Nigra	brain
28	chr8:86378200-86387600	Weak transcription	NHEK	skin
29	chr8:86378200-86388400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr8:86378200-86389400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr8:86378200-86390600	Weak transcription	Brain Germinal Matrix	brain
32	chr8:86378600-86387000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:86378800-86380600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:86379000-86382400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:86379000-86393000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr8:86379200-86380600	Enhancers	GM12878-XiMat	blood
37	chr8:86379400-86380600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr8:86379600-86380600	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr8:86379600-86380600	Enhancers	Duodenum Mucosa	Duodenum
40	chr8:86379600-86387600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr8:86380000-86380400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr8:86380000-86380400	Enhancers	H9 Cell Line	embryonic stem cell
43	chr8:86380000-86380400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:86380000-86380400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr8:86380000-86380400	Transcr. at gene 5' and 3'	Brain Hippocampus Middle	brain
46	chr8:86380000-86380400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr8:86380000-86380400	Enhancers	Small Intestine	intestine
48	chr8:86380000-86380600	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr8:86380000-86380600	Flanking Active TSS	Brain Anterior Caudate	brain
50	chr8:86380000-86380600	Flanking Active TSS	Brain Cingulate Gyrus	brain

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