Variant report

Variant	rs6811006
Chromosome Location	chr4:119763611-119763612
allele	C/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	PBX3	chr4:119763222-119763621	SK-N-SH	brain:	n/a	n/a
2	SP1	chr4:119763074-119763773	HCT-116	colon:	n/a	n/a
3	FOS	chr4:119763175-119763724	HUVEC	blood vessel:	n/a	chr4:119763480-119763491 chr4:119763482-119763490
4	TEAD4	chr4:119763089-119763696	SK-N-SH	brain:	n/a	chr4:119763343-119763352
5	JUND	chr4:119763172-119763650	SK-N-SH	brain:	n/a	chr4:119763482-119763490
6	GATA2	chr4:119763123-119763877	HUVEC	blood vessel:	n/a	n/a
7	JUN	chr4:119763222-119763616	HUVEC	blood vessel:	n/a	chr4:119763482-119763490
8	JUND	chr4:119763015-119763701	HCT-116	colon:	n/a	chr4:119763482-119763490
9	POLR2A	chr4:119763184-119763634	U87	brain:	n/a	n/a
10	MAFF	chr4:119763321-119763626	K562	blood:	n/a	chr4:119763480-119763498
11	FOSL1	chr4:119762975-119763885	HCT-116	colon:	n/a	chr4:119763482-119763490
12	MAFK	chr4:119763278-119763670	IMR90	lung:	n/a	chr4:119763481-119763496 chr4:119763482-119763492 chr4:119763479-119763493 chr4:119763483-119763492
13	CEBPB	chr4:119763029-119763818	HCT-116	colon:	n/a	chr4:119763642-119763655
14	SIN3AK20	chr4:119763076-119763636	HCT-116	colon:	n/a	n/a
15	STAT3	chr4:119763308-119763618	MCF10A-Er-Src	breast:	n/a	n/a
16	JUND	chr4:119763030-119763848	HCT-116	colon:	n/a	chr4:119763482-119763490
17	MAFK	chr4:119763342-119763642	HepG2	liver:	n/a	chr4:119763481-119763496 chr4:119763482-119763492 chr4:119763479-119763493 chr4:119763483-119763492
18	SP1	chr4:119762975-119763811	HCT-116	colon:	n/a	n/a
19	MAFK	chr4:119763303-119763660	HepG2	liver:	n/a	chr4:119763481-119763496 chr4:119763482-119763492 chr4:119763479-119763493 chr4:119763483-119763492
20	FOS	chr4:119763218-119763658	MCF10A-Er-Src	breast:	n/a	chr4:119763480-119763491 chr4:119763482-119763490
21	FOSL2	chr4:119763053-119763744	SK-N-SH	brain:	n/a	chr4:119763482-119763490
22	JUND	chr4:119763099-119763799	SK-N-SH	brain:	n/a	chr4:119763482-119763490
23	EGR1	chr4:119763130-119763774	HCT-116	colon:	n/a	n/a
24	GATA3	chr4:119763116-119763753	SK-N-SH	brain:	n/a	n/a
25	SRF	chr4:119763096-119763724	HCT-116	colon:	n/a	n/a
26	FOSL1	chr4:119763093-119763813	HCT-116	colon:	n/a	chr4:119763482-119763490
27	SRF	chr4:119763101-119763705	HCT-116	colon:	n/a	n/a
28	MAFF	chr4:119763329-119763660	HepG2	liver:	n/a	chr4:119763480-119763498
29	TEAD4	chr4:119763108-119763640	HCT-116	colon:	n/a	chr4:119763343-119763352
30	PBX3	chr4:119763120-119763718	SK-N-SH	brain:	n/a	n/a
31	SIN3AK20	chr4:119763086-119763784	HCT-116	colon:	n/a	n/a
32	GATA3	chr4:119763008-119763736	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:119755737..119758687-chr4:119762494..119764022,2	MCF-7	breast:

Variant related genes	Relation type
SEC24D	TF binding region
ENSG00000150961	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1019696	0.96[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11098453	0.96[CEU][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11098459	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11098460	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12512594	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12643205	0.96[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13112913	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13139244	0.96[CEU][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1365549	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1365550	0.91[CEU][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1365551	0.91[CEU][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1962840	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2114461	0.85[ASN][1000 genomes]
rs2303512	0.84[CEU][hapmap];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2389688	0.95[ASN][1000 genomes]
rs34057511	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35934778	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36096663	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3775839	0.96[CEU][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3775840	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4833592	0.95[CEU][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4833593	0.96[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4834704	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4834705	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4834706	0.96[CEU][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6817084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7375858	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS 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	39 gene(s)	inside rSNPs	diseases
2	esv3355840	chr4:119296640-119774737	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv3376985	chr4:119757182-119774736	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119758000-119764600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:119758000-119764600	Weak transcription	Psoas Muscle	Psoas
3	chr4:119758200-119766800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:119758200-119771200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:119762200-119764000	Enhancers	Osteobl	bone
6	chr4:119762200-119764800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:119762200-119764800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:119762600-119763800	Flanking Active TSS	NH-A	brain
9	chr4:119762600-119764000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr4:119762600-119764000	Enhancers	HUVEC	blood vessel
11	chr4:119762600-119764400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:119762800-119763800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:119762800-119764000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:119762800-119764000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:119762800-119764000	Enhancers	HMEC	breast
16	chr4:119762800-119764000	Enhancers	HSMM	muscle
17	chr4:119762800-119764000	Enhancers	NHDF-Ad	bronchial
18	chr4:119762800-119771400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr4:119763000-119764400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr4:119763000-119764600	Enhancers	NHLF	lung
21	chr4:119763000-119766800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr4:119763000-119767400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr4:119763000-119767600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr4:119763000-119769800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr4:119763200-119764600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:119763200-119766800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr4:119763200-119767600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr4:119763200-119769600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr4:119763400-119764000	Enhancers	NHEK	skin
30	chr4:119763400-119768200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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