Variant report

Variant	rs73261817
Chromosome Location	chr8:86020472-86020473
allele	A/G
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	MAZ	chr8:86018968-86020505	K562	blood:	n/a	n/a
2	MAX	chr8:86020193-86020473	K562	blood:	n/a	n/a
3	POLR2A	chr8:86018622-86020478	SK-N-MC	brain:	n/a	n/a
4	ZNF143	chr8:86019729-86020473	K562	blood:	n/a	n/a
5	E2F4	chr8:86018982-86020768	MCF10A-Er-Src	breast:	n/a	chr8:86019377-86019388 chr8:86019380-86019387 chr8:86019376-86019388 chr8:86019716-86019725 chr8:86019380-86019387 chr8:86019380-86019387 chr8:86019828-86019840
6	POLR2A	chr8:86019115-86021120	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:86019469..86022152-chr9:100745432..100747844,2	MCF-7	breast:

Variant related genes	Relation type
LRRCC1	TF binding region
ENSG00000136938	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs73261818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73261883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73261894	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3481417	chr8:85279453-86145229	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv3481418	chr8:85279453-86145229	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1033160	chr8:86010643-86030560	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86018600-86020600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:86018600-86020600	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr8:86018600-86020600	Active TSS	Fetal Brain Female	brain
4	chr8:86018600-86020600	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr8:86018600-86020600	Active TSS	Rectal Smooth Muscle	rectum
6	chr8:86018800-86020600	Active TSS	Esophagus	oesophagus
7	chr8:86018800-86021200	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr8:86019200-86020600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:86019800-86020600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:86019800-86020600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr8:86019800-86020600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:86019800-86020600	Flanking Active TSS	Fetal Heart	heart
13	chr8:86019800-86020800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:86019800-86021200	Flanking Active TSS	Dnd41	blood
15	chr8:86020000-86020600	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr8:86020000-86020600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr8:86020000-86020600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr8:86020000-86020600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr8:86020000-86020600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr8:86020000-86020600	Flanking Active TSS	Brain Anterior Caudate	brain
21	chr8:86020000-86020600	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr8:86020000-86020600	Enhancers	Placenta Amnion	Placenta Amnion
23	chr8:86020000-86020600	Flanking Active TSS	HMEC	breast
24	chr8:86020000-86021200	Flanking Active TSS	K562	blood
25	chr8:86020000-86024400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:86020000-86057400	Weak transcription	Small Intestine	intestine
27	chr8:86020200-86020600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
28	chr8:86020200-86020600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
29	chr8:86020200-86020600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:86020200-86020600	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr8:86020200-86020600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr8:86020200-86020600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr8:86020200-86020600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr8:86020200-86020600	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr8:86020200-86020600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:86020200-86020600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr8:86020200-86020600	Enhancers	Liver	Liver
38	chr8:86020200-86020600	Flanking Active TSS	Brain Angular Gyrus	brain
39	chr8:86020200-86020600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
40	chr8:86020200-86020600	Flanking Active TSS	Brain Substantia Nigra	brain
41	chr8:86020200-86020600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr8:86020200-86020600	Enhancers	Thymus	Thymus
43	chr8:86020200-86020600	Flanking Active TSS	GM12878-XiMat	blood
44	chr8:86020200-86020600	Flanking Active TSS	HepG2	liver
45	chr8:86020200-86020600	Flanking Active TSS	NHDF-Ad	bronchial
46	chr8:86020200-86020600	Flanking Active TSS	NHEK	skin
47	chr8:86020200-86020600	Flanking Active TSS	Osteobl	bone
48	chr8:86020200-86020800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
49	chr8:86020200-86020800	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr8:86020200-86020800	Enhancers	Primary T helper cells fromperipheralblood	blood

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