Variant report

Variant	rs6131740
Chromosome Location	chr20:15911630-15911631
allele	A/C
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	FOS	chr20:15911572-15911908	MCF10A-Er-Src	breast:	n/a	chr20:15911738-15911749 chr20:15911736-15911747
2	TCF7L2	chr20:15911049-15911872	Hela-S3	cervix:	n/a	chr20:15911636-15911643
3	FOS	chr20:15911495-15911926	MCF10A-Er-Src	breast:	n/a	chr20:15911738-15911749 chr20:15911736-15911747
4	RFX5	chr20:15911525-15911920	Hela-S3	cervix:	n/a	n/a
5	RAD21	chr20:15910726-15912155	SK-N-SH	brain:	n/a	chr20:15911120-15911139
6	STAT3	chr20:15911620-15911880	MCF10A-Er-Src	breast:	n/a	chr20:15911852-15911860
7	CEBPB	chr20:15911497-15911821	HepG2	liver:	n/a	chr20:15911671-15911682
8	MAX	chr20:15911478-15911939	Hela-S3	cervix:	n/a	n/a
9	USF2	chr20:15911607-15911882	Hela-S3	cervix:	n/a	n/a
10	CHD2	chr20:15911548-15911886	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr20:15911515-15911832	A549	lung:	n/a	chr20:15911671-15911682
12	EP300	chr20:15911408-15911940	Hela-S3	cervix:	n/a	n/a
13	STAT3	chr20:15911499-15911842	Hela-S3	cervix:	n/a	n/a
14	STAT3	chr20:15911602-15911890	MCF10A-Er-Src	breast:	n/a	chr20:15911852-15911860
15	CTCF	chr20:15911520-15911670	HA-sp	spinal cord:	n/a	n/a
16	GTF2F1	chr20:15911572-15911915	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr20:15910783-15911953	A549	lung:	n/a	chr20:15911122-15911140 chr20:15911128-15911137 chr20:15911117-15911138
18	MYC	chr20:15911515-15911924	MCF10A-Er-Src	breast:	n/a	n/a
19	RAD21	chr20:15910901-15911986	Hela-S3	cervix:	n/a	chr20:15911120-15911139
20	MYC	chr20:15911018-15911978	MCF10A-Er-Src	breast:	n/a	n/a
21	SMC3	chr20:15910943-15911940	Hela-S3	cervix:	n/a	chr20:15911124-15911138
22	FOS	chr20:15911551-15911953	MCF10A-Er-Src	breast:	n/a	chr20:15911738-15911749 chr20:15911736-15911747
23	FOS	chr20:15911589-15911873	MCF10A-Er-Src	breast:	n/a	chr20:15911738-15911749 chr20:15911736-15911747
24	CEBPB	chr20:15910925-15911974	Hela-S3	cervix:	n/a	chr20:15911671-15911682
25	RCOR1	chr20:15911038-15911881	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
MACROD2	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs12624676	0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2281418	0.81[AMR][1000 genomes]
rs58630549	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59581588	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60190468	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6074983	0.86[ASN][1000 genomes]
rs6080024	0.92[ASN][1000 genomes]
rs6080032	0.93[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6080044	0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6080048	0.81[AMR][1000 genomes]
rs6080055	0.91[AMR][1000 genomes]
rs6080056	0.91[AMR][1000 genomes]
rs6080057	0.91[AMR][1000 genomes]
rs6080058	0.91[AMR][1000 genomes]
rs6080064	0.89[ASN][1000 genomes]
rs6131739	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6131741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6131743	0.93[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6131745	0.89[AMR][1000 genomes]
rs6131747	0.93[AMR][1000 genomes]
rs6131749	1.00[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6131750	0.89[ASN][1000 genomes]
rs6135581	1.00[AFR][1000 genomes]
rs6135582	1.00[AFR][1000 genomes]
rs6135586	1.00[AFR][1000 genomes]
rs6135593	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6135594	0.82[AMR][1000 genomes]
rs6135595	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6135598	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6135600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6135601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6135602	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6135603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6135604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6135605	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6135606	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6135607	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6135608	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6135613	1.00[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs6135614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6135620	0.85[ASN][1000 genomes]
rs766970	0.80[ASN][1000 genomes]
rs8183396	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[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	nsv869328	chr20:15325423-16213898	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv833929	chr20:15765372-15977337	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv3447866	chr20:15799286-16115291	Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15884400-15917400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr20:15904800-15916200	Weak transcription	GM12878-XiMat	blood
3	chr20:15910800-15911800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr20:15910800-15912000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr20:15910800-15912000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr20:15910800-15912000	Enhancers	Fetal Brain Male	brain
7	chr20:15910800-15912200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr20:15910800-15912200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr20:15910800-15912200	Enhancers	Hela-S3	cervix
10	chr20:15911000-15911800	Enhancers	HSMM	muscle
11	chr20:15911000-15912000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr20:15911000-15912200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr20:15911000-15912200	Enhancers	Primary B cells from peripheral blood	blood
14	chr20:15911200-15911800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr20:15911200-15912200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr20:15911200-15912200	Enhancers	Adipose Nuclei	Adipose
17	chr20:15911200-15912200	Enhancers	Fetal Intestine Small	intestine
18	chr20:15911200-15912400	Enhancers	HMEC	breast
19	chr20:15911400-15912200	Enhancers	Fetal Intestine Large	intestine
20	chr20:15911400-15912600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr20:15911600-15911800	Enhancers	Primary B cells from cord blood	blood
22	chr20:15911600-15912000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr20:15911600-15912000	Enhancers	Aorta	Aorta
24	chr20:15911600-15915000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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