Variant report

Variant	rs4873620
Chromosome Location	chr8:52807598-52807599
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr8:52807463-52807871	HepG2	liver:	n/a	n/a
2	RCOR1	chr8:52807348-52807761	GM12878	blood:	n/a	n/a
3	POLR2A	chr8:52806101-52808455	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr8:52807517-52807870	GM12878	blood:	n/a	n/a
5	POLR2A	chr8:52807531-52808258	GM12878	blood:	n/a	n/a
6	FOXA1	chr8:52807556-52808038	HepG2	liver:	n/a	n/a
7	FOXA2	chr8:52807578-52807867	HepG2	liver:	n/a	n/a
8	POLR2A	chr8:52804446-52808348	K562	blood:	n/a	n/a
9	FOXA1	chr8:52807528-52807926	HepG2	liver:	n/a	n/a
10	ARID3A	chr8:52807160-52807728	K562	blood:	n/a	n/a
11	FOXA1	chr8:52807487-52807918	HepG2	liver:	n/a	n/a
12	JUND	chr8:52807274-52807867	K562	blood:	n/a	n/a
13	FOXA2	chr8:52807524-52807942	A549	lung:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:52775017..52777549-chr8:52806193..52807978,2	MCF-7	breast:
2	chr8:52807403..52809441-chr8:52809988..52811800,2	MCF-7	breast:
3	chr8:52762297..52765279-chr8:52806438..52808911,2	K562	blood:
4	chr8:52805769..52807852-chr8:52829982..52831836,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000228801	TF binding region
ENSG00000168300	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12164174	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4321995	0.86[AFR][1000 genomes]
rs4401853	0.86[AFR][1000 genomes]
rs4418330	0.85[AFR][1000 genomes]
rs4518654	0.85[AFR][1000 genomes]
rs4545087	0.95[AFR][1000 genomes]
rs4565452	0.83[AFR][1000 genomes]
rs4607598	0.83[AMR][1000 genomes]
rs4873614	0.83[AMR][1000 genomes]
rs4873615	0.83[AMR][1000 genomes]
rs6473662	0.83[AMR][1000 genomes]
rs6473664	1.00[AMR][1000 genomes]
rs6997972	0.83[AFR][1000 genomes]
rs7459831	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7459885	0.83[AMR][1000 genomes]
rs7816619	0.83[AMR][1000 genomes]
rs7827030	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9298468	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1018429	chr8:52411443-52878946	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1034856	chr8:52411443-52886765	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv831316	chr8:52660353-52842928	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats 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 target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52771800-52810800	Weak transcription	Esophagus	oesophagus
2	chr8:52772200-52807600	Weak transcription	HSMMtube	muscle
3	chr8:52779400-52809000	Weak transcription	Fetal Kidney	kidney
4	chr8:52782200-52809600	Weak transcription	Aorta	Aorta
5	chr8:52797400-52809000	Weak transcription	HMEC	breast
6	chr8:52797400-52809600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:52797400-52809600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:52797400-52810800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:52797800-52807600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr8:52798000-52810800	Weak transcription	Spleen	Spleen
11	chr8:52798200-52807600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr8:52798800-52808800	Weak transcription	Fetal Brain Female	brain
13	chr8:52799600-52809800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr8:52800000-52807600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:52800000-52809000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr8:52801600-52810200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:52801800-52809600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr8:52801800-52810800	Weak transcription	Gastric	stomach
19	chr8:52802200-52807600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:52802400-52807600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr8:52802400-52810000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr8:52803400-52809800	Weak transcription	Colonic Mucosa	Colon
23	chr8:52803400-52810200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:52803600-52808000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:52803800-52807600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr8:52804000-52807600	Weak transcription	Fetal Heart	heart
27	chr8:52804000-52809200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr8:52804000-52809400	Weak transcription	Fetal Muscle Leg	muscle
29	chr8:52804000-52809600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:52804000-52809600	Weak transcription	Fetal Intestine Large	intestine
31	chr8:52804000-52809600	Weak transcription	Right Atrium	heart
32	chr8:52804200-52808000	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr8:52804200-52808600	Weak transcription	Pancreas	Pancrea
34	chr8:52804200-52809800	Weak transcription	Left Ventricle	heart
35	chr8:52804200-52810400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:52804200-52810400	Weak transcription	Lung	lung
37	chr8:52805000-52809200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr8:52805200-52809800	Weak transcription	Psoas Muscle	Psoas
39	chr8:52805800-52810000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr8:52806000-52807800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr8:52806000-52807800	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr8:52806000-52808000	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr8:52806200-52808400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr8:52806200-52808400	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr8:52806200-52809600	Enhancers	HepG2	liver
46	chr8:52806200-52810000	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr8:52806400-52807600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:52806400-52807600	Enhancers	Brain Cingulate Gyrus	brain
49	chr8:52806400-52807800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:52806400-52807800	Enhancers	Primary T killer memory cells from peripheral blood	blood

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