Variant report

Variant	rs73319190
Chromosome Location	chr8:110652400-110652401
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	CUX1	chr8:110652294-110652750	K562	blood:	n/a	n/a
2	RAD21	chr8:110651623-110652448	HCT-116	colon:	n/a	chr8:110651999-110652018
3	FOSL2	chr8:110652210-110652840	HepG2	liver:	n/a	chr8:110652631-110652643 chr8:110652755-110652763 chr8:110652506-110652517 chr8:110652478-110652489
4	JUND	chr8:110652341-110652921	HepG2	liver:	n/a	chr8:110652631-110652643 chr8:110652755-110652763 chr8:110652507-110652518
5	MBD4	chr8:110652215-110653003	HepG2	liver:	n/a	n/a
6	NFIC	chr8:110652338-110653053	HepG2	liver:	n/a	n/a
7	CUX1	chr8:110652367-110652632	GM12878	blood:	n/a	n/a
8	RCOR1	chr8:110652357-110652854	HepG2	liver:	n/a	n/a
9	FOXA2	chr8:110651573-110653660	HepG2	liver:	n/a	chr8:110652522-110652534
10	GATA2	chr8:110651927-110652514	SH-SY5Y	brain:	n/a	n/a
11	MYBL2	chr8:110651829-110653046	HepG2	liver:	n/a	n/a
12	MXI1	chr8:110651904-110652925	HepG2	liver:	n/a	n/a
13	CTCF	chr8:110651602-110652453	HCT-116	colon:	n/a	chr8:110651996-110652017 chr8:110652387-110652395 chr8:110652007-110652016 chr8:110652001-110652019
14	FOXA1	chr8:110652353-110653072	HepG2	liver:	n/a	chr8:110652790-110652805 chr8:110652522-110652534
15	ARID3A	chr8:110651843-110653048	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:110573084..110574695-chr8:110651484..110652533,12	MCF-7	breast:
2	chr8:110651964..110654489-chr8:110655242..110658219,2	MCF-7	breast:
3	chr8:110462528..110463405-chr8:110651980..110652480,2	MCF-7	breast:
4	chr8:110573673..110575507-chr8:110649898..110652477,2	MCF-7	breast:
5	chr8:110643544..110645348-chr8:110650716..110653682,2	MCF-7	breast:
6	chr8:110552227..110553856-chr8:110652244..110654868,2	MCF-7	breast:
7	chr8:110550837..110554716-chr8:110650281..110652829,3	MCF-7	breast:
8	chr8:110649788..110653968-chr8:110654410..110658481,7	K562	blood:
9	chr8:110564777..110566734-chr8:110651673..110653484,2	MCF-7	breast:
10	chr8:110573577..110574441-chr8:110651735..110652540,3	MCF-7	breast:
11	chr8:110553979..110556820-chr8:110650989..110652969,2	MCF-7	breast:

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

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10086058	1.00[EUR][1000 genomes]
rs10091536	1.00[EUR][1000 genomes]
rs10097751	1.00[EUR][1000 genomes]
rs10101288	1.00[EUR][1000 genomes]
rs16879889	1.00[EUR][1000 genomes]
rs16879906	1.00[EUR][1000 genomes]
rs28423669	1.00[EUR][1000 genomes]
rs28571606	1.00[EUR][1000 genomes]
rs28583803	1.00[EUR][1000 genomes]
rs28593097	1.00[EUR][1000 genomes]
rs28610171	1.00[EUR][1000 genomes]
rs28623195	1.00[EUR][1000 genomes]
rs4313130	1.00[EUR][1000 genomes]
rs57167766	1.00[EUR][1000 genomes]
rs57285880	1.00[EUR][1000 genomes]
rs57962861	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57964282	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58404081	1.00[EUR][1000 genomes]
rs58910462	1.00[EUR][1000 genomes]
rs59161508	1.00[EUR][1000 genomes]
rs59981669	1.00[EUR][1000 genomes]
rs60387056	1.00[EUR][1000 genomes]
rs60841208	1.00[EUR][1000 genomes]
rs73319188	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7817773	1.00[EUR][1000 genomes]
rs7825511	1.00[EUR][1000 genomes]
rs7825600	1.00[EUR][1000 genomes]
rs7825601	1.00[EUR][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:46 , 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	chr8:110646800-110652400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr8:110648200-110655600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr8:110649200-110652400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:110650400-110652400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:110650400-110654800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr8:110650600-110653800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:110650600-110655600	Weak transcription	Right Atrium	heart
16	chr8:110650600-110656200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr8:110651000-110652400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:110651200-110655600	Weak transcription	Fetal Intestine Small	intestine
19	chr8:110651400-110652400	Enhancers	HMEC	breast
20	chr8:110651600-110652600	Flanking Active TSS	Liver	Liver
21	chr8:110651600-110652800	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr8:110651800-110652600	Enhancers	Stomach Mucosa	stomach
23	chr8:110651800-110652600	Enhancers	Stomach Smooth Muscle	stomach
24	chr8:110651800-110652800	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr8:110652000-110652400	Enhancers	Adipose Nuclei	Adipose
26	chr8:110652000-110652400	Enhancers	K562	blood
27	chr8:110652000-110652400	Enhancers	NHLF	lung
28	chr8:110652000-110652600	Flanking Active TSS	A549	lung
29	chr8:110652000-110652800	Enhancers	Pancreas	Pancrea
30	chr8:110652000-110652800	Flanking Active TSS	HepG2	liver
31	chr8:110652000-110654600	Weak transcription	Fetal Brain Male	brain
32	chr8:110652200-110652400	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr8:110652200-110652400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr8:110652200-110652400	Enhancers	NHEK	skin
35	chr8:110652200-110652800	Enhancers	Colon Smooth Muscle	Colon
36	chr8:110652400-110652600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr8:110652400-110652600	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr8:110652400-110653400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr8:110652400-110653600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr8:110652400-110654800	Weak transcription	Adipose Nuclei	Adipose
41	chr8:110652400-110654800	Weak transcription	K562	blood
42	chr8:110652400-110655000	Weak transcription	HMEC	breast
43	chr8:110652400-110655000	Weak transcription	NHLF	lung
44	chr8:110652400-110655200	Weak transcription	NHEK	skin
45	chr8:110652400-110655400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr8:110652400-110655400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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