Variant report

Variant	rs553334538
Chromosome Location	chr6:5085017-5085018
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	POLR2A	chr6:5084943-5085292	GM12892	blood:	n/a	n/a
2	POLR2A	chr6:5084657-5085423	Hela-S3	cervix:	n/a	n/a
3	ZNF263	chr6:5084656-5086573	HEK293-T-REx	kidney:	n/a	chr6:5085514-5085523
4	YY1	chr6:5084581-5085036	K562	blood:	n/a	chr6:5084897-5084911 chr6:5084917-5084931 chr6:5084926-5084940 chr6:5084902-5084911 chr6:5084689-5084703 chr6:5084923-5084932
5	CTCF	chr6:5084940-5085090	GM12865	blood:	n/a	n/a
6	POLR2A	chr6:5084435-5085862	GM12892	blood:	n/a	n/a
7	TCF12	chr6:5084394-5085189	ECC-1	luminal epithelium:	n/a	chr6:5084576-5084586
8	STAT5A	chr6:5084907-5085308	GM12878	blood:	n/a	chr6:5085047-5085059
9	MAX	chr6:5084978-5085516	ECC-1	luminal epithelium:	n/a	chr6:5085239-5085248 chr6:5085238-5085245
10	POLR2A	chr6:5084758-5085150	A549	lung:	n/a	n/a
11	TEAD4	chr6:5084448-5085052	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr6:5084750-5085232	Gliobla	brain:	n/a	n/a
13	YY1	chr6:5084569-5085052	ECC-1	luminal epithelium:	n/a	chr6:5084897-5084911 chr6:5084917-5084931 chr6:5084926-5084940 chr6:5084902-5084911 chr6:5084689-5084703 chr6:5084923-5084932
14	MTA3	chr6:5085003-5085466	GM12878	blood:	n/a	n/a
15	MAZ	chr6:5084505-5085543	Hela-S3	cervix:	n/a	chr6:5085239-5085248 chr6:5084689-5084698 chr6:5085238-5085245
16	MAZ	chr6:5084458-5086460	IMR90	lung:	n/a	chr6:5085239-5085248 chr6:5084689-5084698 chr6:5085238-5085245
17	TAF1	chr6:5084431-5085065	HepG2	liver:	n/a	n/a
18	CTBP2	chr6:5084541-5085419	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD2	chr6:5084520-5085350	GM12878	blood:	n/a	n/a
20	MAX	chr6:5084538-5085248	Hela-S3	cervix:	n/a	chr6:5085239-5085248 chr6:5084689-5084698 chr6:5085238-5085245
21	SMARCB1	chr6:5084261-5086221	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr6:5084960-5085110	GM12875	blood:	n/a	n/a
23	MAX	chr6:5084574-5086339	A549	lung:	n/a	chr6:5085239-5085248 chr6:5084689-5084698 chr6:5085238-5085245
24	YY1	chr6:5084605-5085249	ECC-1	luminal epithelium:	n/a	chr6:5084897-5084911 chr6:5084917-5084931 chr6:5084926-5084940 chr6:5085073-5085082 chr6:5084902-5084911 chr6:5084689-5084703 chr6:5084923-5084932
25	YY1	chr6:5084579-5085075	SK-N-SH_RA	brain:	n/a	chr6:5084897-5084911 chr6:5084917-5084931 chr6:5084926-5084940 chr6:5084902-5084911 chr6:5084689-5084703 chr6:5084923-5084932
26	BHLHE40	chr6:5084524-5085406	GM12878	blood:	n/a	chr6:5084890-5084906 chr6:5084923-5084939 chr6:5084823-5084839
27	POLR2A	chr6:5084720-5085419	GM12878	blood:	n/a	n/a
28	MYBL2	chr6:5084540-5085039	HepG2	liver:	n/a	n/a
29	MAX	chr6:5084504-5085099	K562	blood:	n/a	chr6:5084689-5084698
30	POLR2A	chr6:5084561-5086335	GM12878	blood:	n/a	n/a
31	UBTF	chr6:5084508-5085302	K562	blood:	n/a	n/a
32	EP300	chr6:5084310-5085351	ECC-1	luminal epithelium:	n/a	chr6:5084820-5084836 chr6:5084923-5084932 chr6:5084824-5084840 chr6:5085062-5085078 chr6:5084618-5084631 chr6:5085064-5085080
33	TAF1	chr6:5084804-5085280	ECC-1	luminal epithelium:	n/a	n/a
34	TAF1	chr6:5084396-5085065	HepG2	liver:	n/a	n/a
35	TBL1XR1	chr6:5084541-5085333	GM12878	blood:	n/a	n/a
36	YY1	chr6:5084585-5085250	GM12892	blood:	n/a	chr6:5084897-5084911 chr6:5084917-5084931 chr6:5084926-5084940 chr6:5085073-5085082 chr6:5084902-5084911 chr6:5084689-5084703 chr6:5084923-5084932
37	CTCF	chr6:5084980-5085130	HUVEC	blood vessel:	n/a	n/a
38	TBP	chr6:5084955-5085239	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr6:5082575-5085730	Hela-S3	cervix:	n/a	n/a
40	HEY1	chr6:5084325-5085070	HepG2	liver:	n/a	chr6:5084687-5084702
41	MAZ	chr6:5084294-5085373	K562	blood:	n/a	chr6:5085239-5085248 chr6:5084689-5084698 chr6:5085238-5085245
42	POLR2A	chr6:5084527-5085058	A549	lung:	n/a	n/a
43	POLR2A	chr6:5084973-5085291	GM12878	blood:	n/a	n/a
44	MAX	chr6:5084448-5086348	A549	lung:	n/a	chr6:5085239-5085248 chr6:5084689-5084698 chr6:5085238-5085245
45	POLR2A	chr6:5084890-5085376	GM12892	blood:	n/a	n/a
46	NFIC	chr6:5084429-5085385	ECC-1	luminal epithelium:	n/a	n/a
47	RCOR1	chr6:5084600-5085053	K562	blood:	n/a	n/a
48	POLR2A	chr6:5084497-5085982	GM18505	blood:	n/a	n/a
49	POLR2A	chr6:5084460-5085220	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr6:5084874-5085362	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:5083037..5085353-chr6:5088863..5093171,5	MCF-7	breast:
2	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)

Variant overlapped rSNPs/rCNVs (count:12 , 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
12	esv3439309	chr6:5084978-5087526	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5080400-5085400	Flanking Active TSS	HepG2	liver
2	chr6:5084200-5085200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:5084200-5086000	Active TSS	Right Ventricle	heart
4	chr6:5084200-5087400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr6:5084400-5085200	Active TSS	HSMM	muscle
6	chr6:5084400-5085400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:5084400-5085400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:5084400-5085400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:5084400-5085400	Bivalent/Poised TSS	Colonic Mucosa	Colon
10	chr6:5084400-5085400	Flanking Active TSS	Placenta Amnion	Placenta Amnion
11	chr6:5084400-5085600	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr6:5084400-5085600	Bivalent/Poised TSS	Spleen	Spleen
13	chr6:5084400-5085800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:5084400-5085800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:5084400-5085800	Active TSS	Fetal Kidney	kidney
16	chr6:5084400-5086000	Active TSS	Liver	Liver
17	chr6:5084400-5086000	Bivalent/Poised TSS	Fetal Brain Female	brain
18	chr6:5084400-5086200	Active TSS	A549	lung
19	chr6:5084400-5086400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
20	chr6:5084400-5086400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr6:5084400-5086400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
22	chr6:5084400-5086400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr6:5084400-5086400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:5084400-5086400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr6:5084400-5086400	Active TSS	Brain Angular Gyrus	brain
26	chr6:5084400-5086400	Active TSS	Brain Cingulate Gyrus	brain
27	chr6:5084400-5086400	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr6:5084400-5086400	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr6:5084400-5086400	Active TSS	Left Ventricle	heart
30	chr6:5084400-5086400	Active TSS	Rectal Mucosa Donor 31	rectum
31	chr6:5084400-5086400	Active TSS	Right Atrium	heart
32	chr6:5084400-5086600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
33	chr6:5084400-5086600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
34	chr6:5084400-5086600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr6:5084400-5086600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
36	chr6:5084400-5086600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr6:5084400-5086600	Active TSS	Colon Smooth Muscle	Colon
38	chr6:5084400-5086600	Active TSS	Ovary	ovary
39	chr6:5084400-5086800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
40	chr6:5084400-5086800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
41	chr6:5084400-5086800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
42	chr6:5084400-5086800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr6:5084400-5086800	Active TSS	Brain Anterior Caudate	brain
44	chr6:5084400-5086800	Active TSS	Brain Substantia Nigra	brain
45	chr6:5084400-5086800	Active TSS	Psoas Muscle	Psoas
46	chr6:5084400-5087000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr6:5084400-5087000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
48	chr6:5084400-5087000	Bivalent Enhancer	Fetal Brain Male	brain
49	chr6:5084400-5087000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
50	chr6:5084400-5087200	Active TSS	Rectal Smooth Muscle	rectum

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