Variant report

Variant	rs59001575
Chromosome Location	chr6:5082715-5082716
allele	A/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	TCF7L2	chr6:5082655-5083791	Hela-S3	cervix:	n/a	n/a
2	MYBL2	chr6:5082537-5083539	HepG2	liver:	n/a	n/a
3	MAZ	chr6:5082681-5083289	Hela-S3	cervix:	n/a	chr6:5083248-5083258
4	FOS	chr6:5082182-5083187	MCF10A-Er-Src	breast:	n/a	n/a
5	MBD4	chr6:5082468-5083281	HepG2	liver:	n/a	n/a
6	CHD2	chr6:5082539-5083258	Hela-S3	cervix:	n/a	n/a
7	BHLHE40	chr6:5082565-5083491	HepG2	liver:	n/a	n/a
8	MAZ	chr6:5082676-5083318	HepG2	liver:	n/a	chr6:5083248-5083258
9	POLR2A	chr6:5082078-5083881	HepG2	liver:	n/a	n/a
10	MAX	chr6:5082686-5083318	HepG2	liver:	n/a	chr6:5083248-5083258
11	TEAD4	chr6:5082633-5083291	ECC-1	luminal epithelium:	n/a	n/a
12	NFIC	chr6:5082567-5083403	ECC-1	luminal epithelium:	n/a	n/a
13	FOXA1	chr6:5082614-5083412	HepG2	liver:	n/a	n/a
14	MAX	chr6:5082668-5083409	ECC-1	luminal epithelium:	n/a	chr6:5083248-5083258
15	EP300	chr6:5082677-5083319	HepG2	liver:	n/a	n/a
16	POLR2A	chr6:5082699-5083343	HepG2	liver:	n/a	n/a
17	POLR2A	chr6:5082483-5083481	HepG2	liver:	n/a	n/a
18	HEY1	chr6:5081823-5084134	HepG2	liver:	n/a	n/a
19	NFIC	chr6:5082672-5083390	HepG2	liver:	n/a	n/a
20	POLR2A	chr6:5081927-5084347	HepG2	liver:	n/a	n/a
21	SREBP1	chr6:5082665-5083333	HepG2	liver:	n/a	n/a
22	ARID3A	chr6:5082585-5083262	HepG2	liver:	n/a	n/a
23	REST	chr6:5082703-5083407	HepG2	liver:	n/a	chr6:5083259-5083272 chr6:5083126-5083134
24	FOSL2	chr6:5082683-5083121	A549	lung:	n/a	n/a
25	EP300	chr6:5082672-5083358	HepG2	liver:	n/a	n/a
26	MYBL2	chr6:5082573-5083839	HepG2	liver:	n/a	n/a
27	RCOR1	chr6:5082703-5083290	HepG2	liver:	n/a	n/a
28	TEAD4	chr6:5082604-5083221	HepG2	liver:	n/a	n/a
29	POLR2A	chr6:5082575-5085730	Hela-S3	cervix:	n/a	n/a
30	SP1	chr6:5082623-5083429	HepG2	liver:	n/a	chr6:5083247-5083259 chr6:5083248-5083258 chr6:5083247-5083259
31	TFAP2C	chr6:5082351-5083999	Hela-S3	cervix:	n/a	chr6:5083050-5083065
32	POLR2A	chr6:5082669-5083112	U87	brain:	n/a	n/a
33	TFAP2A	chr6:5082397-5083500	Hela-S3	cervix:	n/a	chr6:5083052-5083067
34	NFIC	chr6:5082597-5083383	HepG2	liver:	n/a	n/a
35	USF2	chr6:5082599-5083163	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr6:5082559-5083456	HepG2	liver:	n/a	n/a
37	EP300	chr6:5082469-5083475	ECC-1	luminal epithelium:	n/a	n/a
38	SMARCC1	chr6:5082119-5083365	Hela-S3	cervix:	n/a	n/a
39	MAX	chr6:5082667-5083307	Hela-S3	cervix:	n/a	chr6:5083248-5083258
40	POLR2A	chr6:5082074-5083393	HepG2	liver:	n/a	n/a
41	POLR2A	chr6:5082553-5083410	HepG2	liver:	n/a	n/a
42	FOSL2	chr6:5082681-5083436	HepG2	liver:	n/a	n/a
43	MXI1	chr6:5082714-5083323	HepG2	liver:	n/a	n/a
44	TCF12	chr6:5082572-5083386	ECC-1	luminal epithelium:	n/a	n/a
45	NFIC	chr6:5082567-5083404	ECC-1	luminal epithelium:	n/a	n/a
46	CHD2	chr6:5082641-5083205	HepG2	liver:	n/a	n/a
47	HEY1	chr6:5082564-5083251	HepG2	liver:	n/a	n/a
48	SMC3	chr6:5082584-5083143	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:5080171..5082939-chr6:5089292..5092079,2	MCF-7	breast:
2	chr6:5072255..5076149-chr6:5080723..5083422,4	K562	blood:
3	chr6:5077831..5080462-chr6:5082551..5084098,2	K562	blood:
4	chr6:5082435..5084667-chr6:5094252..5095807,2	K562	blood:
5	chr6:5081137..5084088-chr6:5116635..5118182,2	MCF-7	breast:
6	chr6:5082094..5085573-chr6:5086074..5088451,3	K562	blood:

Variant related genes	Relation type
PPP1R3G	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6597110	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv462622	chr6:4904380-5172009	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv600871	chr6:4904380-5172009	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv600872	chr6:4975313-5342190	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1031837	chr6:4996667-5418726	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
6	nsv1017380	chr6:5007870-5152551	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1017373	chr6:5066785-5128943	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv538112	chr6:5066785-5128943	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1034681	chr6:5070351-5387176	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
10	nsv538113	chr6:5070351-5387176	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
11	nsv1018152	chr6:5077025-5387176	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5077600-5082800	Weak transcription	Spleen	Spleen
2	chr6:5080000-5084800	Enhancers	NHDF-Ad	bronchial
3	chr6:5080400-5085400	Flanking Active TSS	HepG2	liver
4	chr6:5080600-5083400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:5080600-5083800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:5080800-5083400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:5081000-5084400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr6:5081600-5084000	Enhancers	NHEK	skin
9	chr6:5081800-5084200	Weak transcription	Right Ventricle	heart
10	chr6:5081800-5084200	Enhancers	NHLF	lung
11	chr6:5082000-5082800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:5082000-5083400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr6:5082000-5083400	Enhancers	Osteobl	bone
14	chr6:5082000-5084000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:5082000-5084400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:5082000-5084400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:5082000-5084400	Enhancers	A549	lung
18	chr6:5082000-5084800	Enhancers	HMEC	breast
19	chr6:5082200-5084400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:5082400-5083200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:5082400-5083400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr6:5082400-5083400	Enhancers	Fetal Intestine Small	intestine
23	chr6:5082400-5083800	Flanking Active TSS	Hela-S3	cervix
24	chr6:5082400-5084000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:5082400-5084200	Enhancers	HSMM	muscle
26	chr6:5082400-5084400	Enhancers	Placenta Amnion	Placenta Amnion
27	chr6:5082600-5082800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:5082600-5083000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr6:5082600-5083000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:5082600-5083000	Flanking Active TSS	NH-A	brain
31	chr6:5082600-5083200	Enhancers	Fetal Intestine Large	intestine
32	chr6:5082600-5083400	Enhancers	Esophagus	oesophagus
33	chr6:5082600-5084400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
34	chr6:5082600-5084800	Enhancers	Placenta	Placenta

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