Variant report

Variant	rs545889284
Chromosome Location	chr6:5085604-5085605
allele	C/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	ZNF263	chr6:5084656-5086573	HEK293-T-REx	kidney:	n/a	chr6:5085514-5085523
2	POLR2A	chr6:5084435-5085862	GM12892	blood:	n/a	n/a
3	CTCF	chr6:5085480-5085630	GM12871	blood:	n/a	n/a
4	MAZ	chr6:5084458-5086460	IMR90	lung:	n/a	chr6:5085239-5085248 chr6:5084689-5084698 chr6:5085238-5085245
5	POLR2A	chr6:5085550-5085651	A549	lung:	n/a	n/a
6	SMARCB1	chr6:5084261-5086221	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr6:5085460-5085610	AG04449	skin:	n/a	n/a
8	MAX	chr6:5084574-5086339	A549	lung:	n/a	chr6:5085239-5085248 chr6:5084689-5084698 chr6:5085238-5085245
9	POLR2A	chr6:5084561-5086335	GM12878	blood:	n/a	n/a
10	POLR2A	chr6:5085399-5085704	MCF-7	breast:	n/a	n/a
11	POLR2A	chr6:5085525-5085639	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr6:5082575-5085730	Hela-S3	cervix:	n/a	n/a
13	MAX	chr6:5085515-5086316	SK-N-SH	brain:	n/a	n/a
14	MAX	chr6:5084448-5086348	A549	lung:	n/a	chr6:5085239-5085248 chr6:5084689-5084698 chr6:5085238-5085245
15	POLR2A	chr6:5084497-5085982	GM18505	blood:	n/a	n/a
16	SIN3A	chr6:5085052-5085679	H1-hESC	embryonic stem cell:	n/a	chr6:5085529-5085542
17	E2F6	chr6:5084844-5087368	H1-hESC	embryonic stem cell:	n/a	chr6:5085074-5085089 chr6:5085073-5085082 chr6:5084902-5084911 chr6:5084924-5084934
18	SUZ12	chr6:5084919-5085727	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAZ	chr6:5084434-5086056	GM12878	blood:	n/a	chr6:5085239-5085248 chr6:5084689-5084698 chr6:5085238-5085245
20	POLR2A	chr6:5084507-5086239	GM12892	blood:	n/a	n/a
21	RCOR1	chr6:5084999-5085770	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:5085586-5085636	NB4	blood:	n/a
2	chr6:5085597-5085647	A549	lung:	n/a
3	chr6:5085597-5085647	Caco-2	colon:	n/a
4	chr6:5085586-5085636	U87	brain:	n/a
5	chr6:5085586-5085636	LNCaP	prostate:	n/a
6	chr6:5085586-5085636	NHBE	bronchial:	n/a
7	chr6:5085597-5085647	NT2-D1	testis:	n/a
8	chr6:5085597-5085647	AG10803	skin:	n/a
9	chr6:5085597-5085647	HRCEpiC	kidney:	n/a
10	chr6:5085597-5085647	HEK293	kidney:	embryo
11	chr6:5085586-5085636	GM06990	blood:	n/a
12	chr6:5085597-5085647	GM19239	blood:	n/a
13	chr6:5085586-5085636	Caco-2	colon:	n/a
14	chr6:5085586-5085636	HCF	heart:	n/a
15	chr6:5085597-5085647	PANC-1	pancreas:	n/a
16	chr6:5085586-5085636	SK-N-SH	brain:	n/a
17	chr6:5085597-5085647	HCT-116	colon:	n/a
18	chr6:5085586-5085636	HRPEpiC	eye:	n/a
19	chr6:5085597-5085647	SK-N-MC	brain:	n/a
20	chr6:5085586-5085636	HCPEpiC	choroid plexus:	n/a
21	chr6:5085586-5085636	AG09319	gingival:	n/a
22	chr6:5085597-5085647	HCM	heart:	n/a
23	chr6:5085586-5085636	PFSK-1	brain:	n/a
24	chr6:5085597-5085647	HUVEC	blood vessel:	n/a
25	chr6:5085586-5085636	HCM	heart:	n/a
26	chr6:5085597-5085647	BJ	skin:	n/a
27	chr6:5085597-5085647	SKMC	muscle:	n/a
28	chr6:5085586-5085636	T-47D	breast:	n/a
29	chr6:5085586-5085636	MCF-7	breast:	n/a
30	chr6:5085586-5085636	HL-60	blood:	n/a
31	chr6:5085597-5085647	ECC-1	luminal epithelium:	n/a
32	chr6:5085586-5085636	SK-N-SH_RA	brain:	n/a
33	chr6:5085586-5085636	A549	lung:	n/a
34	chr6:5085597-5085647	HepG2	liver:	n/a
35	chr6:5085586-5085636	GM12878	blood:	n/a
36	chr6:5085586-5085636	HNPCEpiC	eye:	n/a
37	chr6:5085597-5085647	AG09309	skin:	n/a
38	chr6:5085586-5085636	NH-A	brain:	n/a
39	chr6:5085597-5085647	HAEpiC	amniotic membrane:	n/a
40	chr6:5085597-5085647	K562	blood:	n/a
41	chr6:5085597-5085647	GM12878	blood:	n/a
42	chr6:5085597-5085647	PFSK-1	brain:	n/a
43	chr6:5085586-5085636	NHDF-neo	bronchial:	n/a
44	chr6:5085586-5085636	PANC-1	pancreas:	n/a
45	chr6:5085597-5085647	HNPCEpiC	eye:	n/a
46	chr6:5085597-5085647	NHDF-neo	bronchial:	n/a
47	chr6:5085597-5085647	ovcar-3	ovarian:	n/a
48	chr6:5085586-5085636	AG04449	skin:	fetal
49	chr6:5085597-5085647	AG04449	skin:	fetal
50	chr6:5085586-5085636	AG10803	skin:	n/a

Variant related genes	Relation type
PPP1R3G	TF binding region
PPP1R3G	CpG island

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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5084200-5086000	Active TSS	Right Ventricle	heart
2	chr6:5084200-5087400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr6:5084400-5085800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:5084400-5085800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:5084400-5085800	Active TSS	Fetal Kidney	kidney
6	chr6:5084400-5086000	Active TSS	Liver	Liver
7	chr6:5084400-5086000	Bivalent/Poised TSS	Fetal Brain Female	brain
8	chr6:5084400-5086200	Active TSS	A549	lung
9	chr6:5084400-5086400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
10	chr6:5084400-5086400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:5084400-5086400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr6:5084400-5086400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr6:5084400-5086400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:5084400-5086400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr6:5084400-5086400	Active TSS	Brain Angular Gyrus	brain
16	chr6:5084400-5086400	Active TSS	Brain Cingulate Gyrus	brain
17	chr6:5084400-5086400	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr6:5084400-5086400	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr6:5084400-5086400	Active TSS	Left Ventricle	heart
20	chr6:5084400-5086400	Active TSS	Rectal Mucosa Donor 31	rectum
21	chr6:5084400-5086400	Active TSS	Right Atrium	heart
22	chr6:5084400-5086600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
23	chr6:5084400-5086600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
24	chr6:5084400-5086600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:5084400-5086600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
26	chr6:5084400-5086600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr6:5084400-5086600	Active TSS	Colon Smooth Muscle	Colon
28	chr6:5084400-5086600	Active TSS	Ovary	ovary
29	chr6:5084400-5086800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
30	chr6:5084400-5086800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
31	chr6:5084400-5086800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
32	chr6:5084400-5086800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:5084400-5086800	Active TSS	Brain Anterior Caudate	brain
34	chr6:5084400-5086800	Active TSS	Brain Substantia Nigra	brain
35	chr6:5084400-5086800	Active TSS	Psoas Muscle	Psoas
36	chr6:5084400-5087000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr6:5084400-5087000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
38	chr6:5084400-5087000	Bivalent Enhancer	Fetal Brain Male	brain
39	chr6:5084400-5087000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
40	chr6:5084400-5087200	Active TSS	Rectal Smooth Muscle	rectum
41	chr6:5084600-5085800	Active TSS	Fetal Intestine Small	intestine
42	chr6:5084600-5086000	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr6:5084600-5086000	Active TSS	Hela-S3	cervix
44	chr6:5084600-5086200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr6:5084600-5086200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
46	chr6:5084600-5086400	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:5084600-5086400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr6:5084600-5086400	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
49	chr6:5084600-5086400	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr6:5084600-5086600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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