Variant report

Variant	rs57964282
Chromosome Location	chr8:110652764-110652765
allele	A/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	EP300	chr8:110652578-110652912	HepG2	liver:	n/a	chr8:110652791-110652801
2	SP1	chr8:110652573-110652924	HepG2	liver:	n/a	n/a
3	BHLHE40	chr8:110652702-110652907	HepG2	liver:	n/a	n/a
4	FOXA2	chr8:110652516-110652925	A549	lung:	n/a	chr8:110652522-110652534
5	HDAC2	chr8:110652538-110652884	HepG2	liver:	n/a	chr8:110652607-110652621 chr8:110652608-110652622 chr8:110652792-110652801
6	FOSL2	chr8:110652210-110652840	HepG2	liver:	n/a	chr8:110652631-110652643 chr8:110652755-110652763 chr8:110652506-110652517 chr8:110652478-110652489
7	JUND	chr8:110652341-110652921	HepG2	liver:	n/a	chr8:110652631-110652643 chr8:110652755-110652763 chr8:110652507-110652518
8	MBD4	chr8:110652215-110653003	HepG2	liver:	n/a	n/a
9	FOXA1	chr8:110652454-110653093	HepG2	liver:	n/a	chr8:110652790-110652805 chr8:110652522-110652534
10	RXRA	chr8:110652573-110652919	HepG2	liver:	n/a	n/a
11	HNF4A	chr8:110652627-110652899	HepG2	liver:	n/a	n/a
12	RCOR1	chr8:110652741-110652785	GM12878	blood:	n/a	n/a
13	NFIC	chr8:110652338-110653053	HepG2	liver:	n/a	n/a
14	CREB1	chr8:110652571-110652870	HepG2	liver:	n/a	n/a
15	HDAC2	chr8:110652565-110652868	HepG2	liver:	n/a	chr8:110652607-110652621 chr8:110652608-110652622 chr8:110652792-110652801
16	RCOR1	chr8:110652357-110652854	HepG2	liver:	n/a	n/a
17	JUND	chr8:110652587-110652904	HepG2	liver:	n/a	chr8:110652631-110652643 chr8:110652755-110652763
18	EP300	chr8:110652583-110653021	HepG2	liver:	n/a	chr8:110652791-110652801
19	FOXA2	chr8:110652637-110653010	A549	lung:	n/a	n/a
20	TEAD4	chr8:110652631-110652845	HepG2	liver:	n/a	n/a
21	FOXA2	chr8:110651573-110653660	HepG2	liver:	n/a	chr8:110652522-110652534
22	FOXA1	chr8:110652414-110653064	HepG2	liver:	n/a	chr8:110652790-110652805 chr8:110652522-110652534
23	FOXA1	chr8:110652604-110652908	T-47D	breast:	n/a	chr8:110652790-110652805
24	MYBL2	chr8:110651829-110653046	HepG2	liver:	n/a	n/a
25	TEAD4	chr8:110652418-110653071	HepG2	liver:	n/a	n/a
26	FOSL2	chr8:110652625-110652895	HepG2	liver:	n/a	chr8:110652631-110652643 chr8:110652755-110652763
27	FOXA1	chr8:110652438-110652949	HepG2	liver:	n/a	chr8:110652790-110652805 chr8:110652522-110652534
28	MXI1	chr8:110651904-110652925	HepG2	liver:	n/a	n/a
29	FOXA2	chr8:110652525-110652933	HepG2	liver:	n/a	n/a
30	FOXA1	chr8:110652544-110652920	T-47D	breast:	n/a	chr8:110652790-110652805
31	STAT3	chr8:110652717-110652917	MCF10A-Er-Src	breast:	n/a	n/a
32	FOXA1	chr8:110652353-110653072	HepG2	liver:	n/a	chr8:110652790-110652805 chr8:110652522-110652534
33	ARID3A	chr8:110651843-110653048	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:110344899..110348479-chr8:110652629..110655762,4	MCF-7	breast:
2	chr8:110651964..110654489-chr8:110655242..110658219,2	MCF-7	breast:
3	chr8:110643544..110645348-chr8:110650716..110653682,2	MCF-7	breast:
4	chr8:110552227..110553856-chr8:110652244..110654868,2	MCF-7	breast:
5	chr8:110550837..110554716-chr8:110650281..110652829,3	MCF-7	breast:
6	chr8:110649788..110653968-chr8:110654410..110658481,7	K562	blood:
7	chr8:110356541..110358567-chr8:110652716..110654323,2	K562	blood:
8	chr8:110564777..110566734-chr8:110651673..110653484,2	MCF-7	breast:
9	chr8:110553979..110556820-chr8:110650989..110652969,2	MCF-7	breast:
10	chr8:110632763..110635475-chr8:110652459..110654978,2	K562	blood:

Variant related genes	Relation type
ENSG00000248050	TF binding region
ENSG00000120533	Chromatin interaction
ENSG00000147642	Chromatin interaction
ENSG00000147654	Chromatin interaction
ENSG00000248050	Chromatin interaction
ENSG00000120526	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs57962861	0.81[ASN][1000 genomes]
rs73319188	1.00[ASN][1000 genomes]
rs73319190	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1849702	chr8:110594148-110683804	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110590200-110654800	Weak transcription	Lung	lung
2	chr8:110620400-110654800	Weak transcription	Esophagus	oesophagus
3	chr8:110621200-110654800	Weak transcription	Fetal Brain Female	brain
4	chr8:110623400-110655000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:110626200-110654800	Weak transcription	Brain Anterior Caudate	brain
6	chr8:110633200-110656000	Weak transcription	Gastric	stomach
7	chr8:110640200-110655200	Weak transcription	Brain Angular Gyrus	brain
8	chr8:110643800-110655400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr8:110648200-110655600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr8:110650400-110654800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr8:110650600-110653800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:110650600-110655600	Weak transcription	Right Atrium	heart
13	chr8:110650600-110656200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr8:110651200-110655600	Weak transcription	Fetal Intestine Small	intestine
15	chr8:110651600-110652800	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr8:110651800-110652800	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr8:110652000-110652800	Enhancers	Pancreas	Pancrea
18	chr8:110652000-110652800	Flanking Active TSS	HepG2	liver
19	chr8:110652000-110654600	Weak transcription	Fetal Brain Male	brain
20	chr8:110652200-110652800	Enhancers	Colon Smooth Muscle	Colon
21	chr8:110652400-110653400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:110652400-110653600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr8:110652400-110654800	Weak transcription	Adipose Nuclei	Adipose
24	chr8:110652400-110654800	Weak transcription	K562	blood
25	chr8:110652400-110655000	Weak transcription	HMEC	breast
26	chr8:110652400-110655000	Weak transcription	NHLF	lung
27	chr8:110652400-110655200	Weak transcription	NHEK	skin
28	chr8:110652400-110655400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:110652400-110655400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:110652600-110652800	Enhancers	Liver	Liver
31	chr8:110652600-110653000	Enhancers	A549	lung
32	chr8:110652600-110653400	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr8:110652600-110654800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr8:110652600-110655000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:110652600-110655000	Weak transcription	Stomach Mucosa	stomach

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