Variant report

Variant	rs73535733
Chromosome Location	chr8:11332283-11332284
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	CEBPB	chr8:11332205-11332386	K562	blood:	n/a	chr8:11332225-11332236
2	FOS	chr8:11331671-11332383	MCF10A-Er-Src	breast:	n/a	n/a
3	CEBPB	chr8:11332039-11332419	HepG2	liver:	n/a	chr8:11332225-11332236
4	CEBPB	chr8:11332071-11332488	MCF-7	breast:	n/a	chr8:11332225-11332236
5	FOS	chr8:11331694-11332411	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr8:11331694-11332607	IMR90	lung:	n/a	n/a
7	NFIC	chr8:11331675-11332308	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr8:11331590-11332493	U87	brain:	n/a	n/a
9	MYC	chr8:11331590-11332653	A549	lung:	n/a	n/a
10	EP300	chr8:11331573-11332382	A549	lung:	n/a	chr8:11332072-11332086
11	STAT3	chr8:11331665-11332374	MCF10A-Er-Src	breast:	n/a	chr8:11331960-11331972
12	CREB1	chr8:11331718-11332409	A549	lung:	n/a	n/a
13	MAZ	chr8:11331590-11332994	IMR90	lung:	n/a	chr8:11332728-11332738
14	SP1	chr8:11331567-11332478	A549	lung:	n/a	chr8:11331741-11331751 chr8:11331741-11331751
15	FOS	chr8:11331842-11332412	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr8:11331584-11332499	U87	brain:	n/a	n/a
17	NR3C1	chr8:11331566-11332373	A549	lung:	n/a	chr8:11332151-11332164
18	MYC	chr8:11331580-11332358	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr8:11331991-11332324	MCF10A-Er-Src	breast:	n/a	n/a
20	REST	chr8:11331595-11332414	A549	lung:	n/a	n/a
21	CEBPB	chr8:11331694-11332447	A549	lung:	n/a	chr8:11332225-11332236
22	MAX	chr8:11331591-11332490	A549	lung:	n/a	n/a
23	CEBPB	chr8:11331734-11332465	IMR90	lung:	n/a	chr8:11332225-11332236
24	POLR2A	chr8:11331715-11332464	U87	brain:	n/a	n/a
25	FOS	chr8:11331816-11332421	MCF10A-Er-Src	breast:	n/a	n/a
26	STAT3	chr8:11332235-11332303	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr8:11331584-11332300	MCF10A-Er-Src	breast:	n/a	n/a
28	FOSL2	chr8:11331602-11332447	A549	lung:	n/a	n/a
29	FOXA2	chr8:11331484-11332309	A549	lung:	n/a	n/a
30	CEBPB	chr8:11331971-11332489	MCF-7	breast:	n/a	chr8:11332225-11332236
31	E2F4	chr8:11332167-11332367	MCF10A-Er-Src	breast:	n/a	n/a
32	CEBPB	chr8:11331598-11332493	A549	lung:	n/a	chr8:11332225-11332236
33	SP1	chr8:11331576-11332420	A549	lung:	n/a	chr8:11331741-11331751 chr8:11331741-11331751
34	POLR2A	chr8:11331696-11332464	U87	brain:	n/a	n/a
35	CEBPB	chr8:11332053-11332430	Hela-S3	cervix:	n/a	chr8:11332225-11332236
36	MYC	chr8:11331586-11332386	MCF10A-Er-Src	breast:	n/a	n/a
37	TCF12	chr8:11331120-11332653	A549	lung:	n/a	n/a
38	CEBPB	chr8:11331979-11332425	A549	lung:	n/a	chr8:11332225-11332236

No.	Distal block	Cell Line	Cell type
1	chr8:11322451..11325795-chr8:11329496..11335044,6	MCF-7	breast:
2	chr8:11331911..11334130-chr8:11408479..11410507,2	MCF-7	breast:
3	chr8:11323210..11326776-chr8:11330455..11332610,5	MCF-7	breast:

Variant related genes	Relation type
FAM167A	TF binding region
ENSG00000154319	Chromatin interaction
ENSG00000269954	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10091586	1.00[AMR][1000 genomes]
rs11997701	1.00[EUR][1000 genomes]
rs11998211	1.00[EUR][1000 genomes]
rs17153171	1.00[EUR][1000 genomes]
rs17153437	1.00[EUR][1000 genomes]
rs17153457	1.00[EUR][1000 genomes]
rs2061832	1.00[AMR][1000 genomes]
rs2254959	1.00[EUR][1000 genomes]
rs2409783	1.00[EUR][1000 genomes]
rs2618454	1.00[AMR][1000 genomes]
rs34926793	1.00[EUR][1000 genomes]
rs56185487	1.00[EUR][1000 genomes]
rs56888159	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57586616	1.00[EUR][1000 genomes]
rs57741049	1.00[EUR][1000 genomes]
rs59820494	1.00[EUR][1000 genomes]
rs60536897	1.00[EUR][1000 genomes]
rs60798606	1.00[EUR][1000 genomes]
rs61104770	1.00[EUR][1000 genomes]
rs61372296	1.00[EUR][1000 genomes]
rs6994766	1.00[EUR][1000 genomes]
rs7012288	1.00[EUR][1000 genomes]
rs73530698	1.00[EUR][1000 genomes]
rs73533631	1.00[EUR][1000 genomes]
rs73533635	1.00[EUR][1000 genomes]
rs73533636	1.00[EUR][1000 genomes]
rs73533689	1.00[EUR][1000 genomes]
rs73535718	1.00[EUR][1000 genomes]
rs73535720	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73535722	1.00[EUR][1000 genomes]
rs73535736	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73539735	1.00[EUR][1000 genomes]
rs73539737	1.00[EUR][1000 genomes]
rs73539765	1.00[EUR][1000 genomes]
rs73541732	1.00[EUR][1000 genomes]
rs73541774	1.00[EUR][1000 genomes]
rs73543849	1.00[EUR][1000 genomes]
rs73543868	1.00[EUR][1000 genomes]
rs73543893	1.00[EUR][1000 genomes]
rs73547808	1.00[EUR][1000 genomes]
rs73547893	1.00[EUR][1000 genomes]
rs73547901	1.00[EUR][1000 genomes]
rs73547902	1.00[EUR][1000 genomes]
rs73663108	1.00[EUR][1000 genomes]
rs7815435	1.00[EUR][1000 genomes]
rs7831922	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1030756	chr8:11292073-11332782	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1022074	chr8:11292256-11394526	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv2762725	chr8:11322997-11350721	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11325200-11335000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:11330200-11333600	Enhancers	Stomach Mucosa	stomach
3	chr8:11330400-11332600	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr8:11330400-11332800	Enhancers	Pancreas	Pancrea
5	chr8:11331000-11332800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr8:11331000-11332800	Enhancers	Liver	Liver
7	chr8:11331000-11334000	Enhancers	Placenta	Placenta
8	chr8:11331200-11332400	Weak transcription	Gastric	stomach
9	chr8:11331600-11332400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:11331600-11332400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr8:11331600-11332400	Enhancers	Hela-S3	cervix
12	chr8:11331600-11332600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr8:11331600-11332600	Enhancers	Esophagus	oesophagus
14	chr8:11331600-11332600	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr8:11331600-11332800	Enhancers	HMEC	breast
16	chr8:11331600-11332800	Enhancers	NHLF	lung
17	chr8:11331600-11333600	Enhancers	HSMMtube	muscle
18	chr8:11331800-11332400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:11331800-11332600	Enhancers	H9 Cell Line	embryonic stem cell
20	chr8:11331800-11332600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr8:11331800-11332600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:11331800-11332600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:11331800-11332600	Enhancers	Brain Hippocampus Middle	brain
24	chr8:11331800-11332600	Enhancers	Fetal Brain Female	brain
25	chr8:11331800-11332600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr8:11331800-11332600	Enhancers	NHDF-Ad	bronchial
27	chr8:11331800-11332600	Flanking Active TSS	NHEK	skin
28	chr8:11331800-11332600	Flanking Active TSS	Osteobl	bone
29	chr8:11331800-11332800	Enhancers	HUVEC	blood vessel
30	chr8:11331800-11333000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr8:11332000-11332400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr8:11332000-11332400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr8:11332000-11332400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr8:11332000-11332400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr8:11332000-11332600	Enhancers	Fetal Lung	lung
36	chr8:11332000-11332600	Enhancers	Fetal Thymus	thymus
37	chr8:11332000-11332800	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr8:11332000-11333000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr8:11332200-11332400	Enhancers	Fetal Brain Male	brain
40	chr8:11332200-11332800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:11332200-11332800	Enhancers	Lung	lung
42	chr8:11332200-11332800	Enhancers	NH-A	brain
43	chr8:11332200-11333600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:11332200-11333600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr8:11332200-11333600	Enhancers	A549	lung
46	chr8:11332200-11333800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr8:11332200-11333800	Enhancers	HSMM	muscle
48	chr8:11332200-11334200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr8:11332200-11335200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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