Variant report

Variant	rs10193500
Chromosome Location	chr2:20308707-20308708
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	CEBPB	chr2:20308414-20308795	MCF-7	breast:	n/a	n/a
2	JUN	chr2:20308495-20308737	HepG2	liver:	n/a	chr2:20308581-20308591 chr2:20308580-20308592 chr2:20308581-20308591 chr2:20308581-20308591 chr2:20308582-20308590
3	REST	chr2:20308548-20308746	Hela-S3	cervix:	n/a	n/a
4	MYC	chr2:20308479-20308724	MCF10A-Er-Src	breast:	n/a	n/a
5	REST	chr2:20308493-20308774	HepG2	liver:	n/a	n/a
6	JUND	chr2:20308429-20308858	HepG2	liver:	n/a	chr2:20308581-20308591 chr2:20308580-20308592 chr2:20308580-20308591 chr2:20308581-20308591 chr2:20308581-20308591 chr2:20308582-20308590
7	FOSL2	chr2:20308449-20308863	HepG2	liver:	n/a	chr2:20308581-20308591 chr2:20308580-20308592 chr2:20308581-20308591 chr2:20308581-20308591 chr2:20308582-20308590
8	EP300	chr2:20308427-20309221	HepG2	liver:	n/a	n/a
9	CEBPB	chr2:20308372-20308761	Hela-S3	cervix:	n/a	n/a
10	FOSL2	chr2:20308443-20308754	A549	lung:	n/a	chr2:20308581-20308591 chr2:20308580-20308592 chr2:20308581-20308591 chr2:20308581-20308591 chr2:20308582-20308590
11	CEBPB	chr2:20308398-20309105	HepG2	liver:	n/a	n/a
12	TCF12	chr2:20308378-20309000	A549	lung:	n/a	chr2:20308791-20308801
13	ELF1	chr2:20308705-20309183	HepG2	liver:	n/a	n/a
14	FOS	chr2:20308429-20308741	MCF10A-Er-Src	breast:	n/a	chr2:20308581-20308591 chr2:20308580-20308592 chr2:20308581-20308591 chr2:20308581-20308591 chr2:20308582-20308590
15	POLR2A	chr2:20308561-20308950	HepG2	liver:	n/a	n/a
16	CEBPB	chr2:20308359-20308768	IMR90	lung:	n/a	n/a
17	FOXA2	chr2:20308285-20308806	A549	lung:	n/a	n/a
18	MAFK	chr2:20308443-20308748	HepG2	liver:	n/a	chr2:20308582-20308592 chr2:20308583-20308592
19	CEBPB	chr2:20308396-20308792	A549	lung:	n/a	n/a
20	USF2	chr2:20308547-20308716	HepG2	liver:	n/a	n/a
21	TEAD4	chr2:20308323-20309273	HepG2	liver:	n/a	n/a
22	CEBPB	chr2:20308381-20308975	HepG2	liver:	n/a	n/a
23	RCOR1	chr2:20308444-20309283	IMR90	lung:	n/a	n/a
24	CEBPB	chr2:20308366-20309072	HepG2	liver:	n/a	n/a
25	CEBPB	chr2:20308404-20308840	A549	lung:	n/a	n/a
26	CEBPB	chr2:20308426-20308716	HepG2	liver:	n/a	n/a
27	MYBL2	chr2:20308309-20309291	HepG2	liver:	n/a	n/a
28	FOSL2	chr2:20308327-20308902	A549	lung:	n/a	chr2:20308581-20308591 chr2:20308580-20308592 chr2:20308581-20308591 chr2:20308581-20308591 chr2:20308582-20308590
29	EP300	chr2:20308327-20309197	HepG2	liver:	n/a	n/a
30	HDAC2	chr2:20308426-20309186	HepG2	liver:	n/a	n/a
31	FOSL2	chr2:20308338-20309009	HepG2	liver:	n/a	chr2:20308581-20308591 chr2:20308580-20308592 chr2:20308581-20308591 chr2:20308581-20308591 chr2:20308582-20308590
32	MAFF	chr2:20308436-20308785	HepG2	liver:	n/a	n/a
33	FOXA1	chr2:20308393-20308820	HepG2	liver:	n/a	n/a
34	FOXA2	chr2:20308296-20308890	A549	lung:	n/a	n/a
35	CEBPB	chr2:20308366-20309028	A549	lung:	n/a	n/a
36	JUND	chr2:20308441-20308813	A549	lung:	n/a	chr2:20308581-20308591 chr2:20308580-20308592 chr2:20308580-20308591 chr2:20308581-20308591 chr2:20308581-20308591 chr2:20308582-20308590
37	MYBL2	chr2:20308326-20309245	HepG2	liver:	n/a	n/a
38	RCOR1	chr2:20308564-20308806	HepG2	liver:	n/a	n/a
39	FOXA1	chr2:20308264-20308759	HepG2	liver:	n/a	n/a
40	SP1	chr2:20308436-20309220	HepG2	liver:	n/a	n/a
41	FOS	chr2:20308413-20308758	MCF10A-Er-Src	breast:	n/a	chr2:20308581-20308591 chr2:20308580-20308592 chr2:20308581-20308591 chr2:20308581-20308591 chr2:20308582-20308590
42	FOS	chr2:20308461-20308765	MCF10A-Er-Src	breast:	n/a	chr2:20308581-20308591 chr2:20308580-20308592 chr2:20308581-20308591 chr2:20308581-20308591 chr2:20308582-20308590
43	FOS	chr2:20308414-20308756	MCF10A-Er-Src	breast:	n/a	chr2:20308581-20308591 chr2:20308580-20308592 chr2:20308581-20308591 chr2:20308581-20308591 chr2:20308582-20308590
44	FOXA1	chr2:20308307-20308801	HepG2	liver:	n/a	n/a
45	MAFK	chr2:20308473-20308765	HepG2	liver:	n/a	chr2:20308582-20308592 chr2:20308583-20308592

No.	Distal block	Cell Line	Cell type
1	chr2:20270622..20273512-chr2:20307983..20310075,2	MCF-7	breast:
2	chr2:20307981..20311026-chr2:20439655..20442386,3	MCF-7	breast:
3	chr2:20306020..20309024-chr2:20421635..20424090,4	MCF-7	breast:
4	chr2:20303170..20305756-chr2:20308003..20310603,2	MCF-7	breast:
5	chr2:20308045..20309593-chr2:20432810..20434500,2	MCF-7	breast:
6	chr2:20307232..20308797-chr2:20378092..20380183,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234378	TF binding region
ENSG00000235411	Chromatin interaction
ENSG00000115884	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10170722	1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10170811	1.00[ASW][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13395571	1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13433062	1.00[JPT][hapmap]
rs7562547	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20305800-20310200	Weak transcription	Gastric	stomach
2	chr2:20306600-20318400	Enhancers	Placenta	Placenta
3	chr2:20306800-20311200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:20306800-20318200	Weak transcription	Right Ventricle	heart
5	chr2:20307000-20309000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:20307000-20310200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:20307000-20310200	Enhancers	HMEC	breast
8	chr2:20307000-20311200	Weak transcription	Esophagus	oesophagus
9	chr2:20307000-20311200	Weak transcription	Pancreas	Pancrea
10	chr2:20307200-20309200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:20307600-20309000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:20307800-20308800	Weak transcription	NHDF-Ad	bronchial
13	chr2:20307800-20310200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:20308000-20310600	Weak transcription	K562	blood
15	chr2:20308000-20322200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:20308400-20308800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr2:20308400-20309000	Enhancers	NHLF	lung
18	chr2:20308400-20310200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:20308600-20308800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:20308600-20308800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr2:20308600-20309000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:20308600-20309000	Flanking Active TSS	Liver	Liver
23	chr2:20308600-20309000	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr2:20308600-20309000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
25	chr2:20308600-20309000	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr2:20308600-20309000	Enhancers	Hela-S3	cervix
27	chr2:20308600-20309200	Enhancers	Fetal Intestine Small	intestine
28	chr2:20308600-20309200	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr2:20308600-20309200	Enhancers	Stomach Mucosa	stomach
30	chr2:20308600-20309200	Flanking Active TSS	A549	lung
31	chr2:20308600-20309400	Flanking Active TSS	HepG2	liver
32	chr2:20308600-20310000	Enhancers	NHEK	skin
33	chr2:20308600-20311200	Enhancers	Fetal Intestine Large	intestine

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