Variant report

Variant	rs534093280
Chromosome Location	chr8:11565547-11565548
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	RAD21	chr8:11564983-11565854	SK-N-SH	brain:	n/a	chr8:11565471-11565490 chr8:11565475-11565489
2	CTCF	chr8:11565414-11565551	GM19238	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
3	POLR2A	chr8:11565326-11565623	PANC-1	pancreas:	n/a	n/a
4	CTCF	chr8:11565420-11565570	GM12875	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
5	CTCF	chr8:11565400-11565550	GM12867	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
6	RAD21	chr8:11565255-11565601	SK-N-SH_RA	brain:	n/a	chr8:11565471-11565490 chr8:11565475-11565489
7	CTCF	chr8:11565321-11565628	K562	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
8	CTCF	chr8:11565330-11565617	H1-hESC	embryonic stem cell:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
9	CTCF	chr8:11565420-11565570	HPAF	blood vessel:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
10	GABPA	chr8:11565207-11565613	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr8:11565380-11565559	GM12878	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
12	CTCF	chr8:11565440-11565590	HBMEC	blood vessel:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
13	CTCF	chr8:11565400-11565568	K562	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
14	CTCF	chr8:11565360-11565576	SK-N-SH_RA	brain:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
15	SUZ12	chr8:11564595-11567926	NT2-D1	testis:	n/a	n/a
16	CTCF	chr8:11565262-11565831	SK-N-SH	brain:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
17	CTCF	chr8:11565398-11565548	SK-N-SH_RA	brain:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
18	RAD21	chr8:11565337-11565560	K562	blood:	n/a	chr8:11565471-11565490 chr8:11565475-11565489
19	CTCF	chr8:11565328-11565593	K562	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
20	CTCF	chr8:11565460-11565610	AG04449	skin:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
21	SUZ12	chr8:11565166-11567868	H1-hESC	embryonic stem cell:	n/a	n/a
22	SMC3	chr8:11565157-11565871	SK-N-SH	brain:	n/a	n/a
23	CTCF	chr8:11565419-11565557	GM10266	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
24	CTCF	chr8:11565440-11565590	GM12868	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
25	RAD21	chr8:11565317-11565589	H1-hESC	embryonic stem cell:	n/a	chr8:11565471-11565490 chr8:11565475-11565489
26	RAD21	chr8:11565384-11565634	H1-hESC	embryonic stem cell:	n/a	chr8:11565471-11565490 chr8:11565475-11565489
27	CTCF	chr8:11565440-11565590	GM12875	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
28	CTCF	chr8:11565400-11565550	GM12874	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
29	CTCF	chr8:11565406-11565581	Pancreas_OC	pancreas:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
30	CTCF	chr8:11565420-11565570	GM12866	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
31	CTCF	chr8:11565368-11565620	K562	blood:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
32	TCF12	chr8:11565386-11565582	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr8:11565420-11565570	SAEC	small airway:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
34	CTCF	chr8:11565440-11565590	HCFaa	heart:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
35	CTCF	chr8:11565400-11565550	HRPEpiC	eye:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
36	CTBP2	chr8:11565182-11567986	H1-hESC	embryonic stem cell:	n/a	n/a
37	RAD21	chr8:11565320-11565557	SK-N-SH_RA	brain:	n/a	chr8:11565471-11565490 chr8:11565475-11565489
38	CTCF	chr8:11565395-11565573	H1-hESC	embryonic stem cell:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491
39	CTCF	chr8:11565480-11565630	GM12870	blood:	n/a	n/a
40	CTCF	chr8:11565500-11565650	GM12871	blood:	n/a	n/a
41	CTCF	chr8:11565480-11565630	HRE	kidney:	n/a	n/a
42	CTCF	chr8:11565400-11565550	SK-N-SH_RA	brain:	n/a	chr8:11565475-11565488 chr8:11565474-11565490 chr8:11565473-11565491

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:11565530-11565580	HRE	kidney:	n/a
2	chr8:11565530-11565580	AG04449	skin:	fetal
3	chr8:11565530-11565580	PANC-1	pancreas:	n/a
4	chr8:11565530-11565580	HCPEpiC	choroid plexus:	n/a
5	chr8:11565530-11565580	NT2-D1	testis:	n/a
6	chr8:11565530-11565580	AoSMC	blood vessel:	n/a
7	chr8:11565530-11565580	HIPEpiC	eye:	n/a
8	chr8:11565530-11565580	AG09309	skin:	n/a
9	chr8:11565530-11565580	NHBE	bronchial:	n/a
10	chr8:11565530-11565580	NHDF-neo	bronchial:	n/a
11	chr8:11565530-11565580	SK-N-SH_RA	brain:	n/a
12	chr8:11565530-11565580	MCF10A-Er-Src	breast:	n/a
13	chr8:11565530-11565580	HEK293	kidney:	embryo
14	chr8:11565530-11565580	HMEC	breast:	n/a
15	chr8:11565530-11565580	ProgFib	skin:	n/a
16	chr8:11565530-11565580	MCF-7	breast:	n/a
17	chr8:11565530-11565580	CMK	blood:	n/a
18	chr8:11565530-11565580	HRCEpiC	kidney:	n/a
19	chr8:11565530-11565580	Caco-2	colon:	n/a
20	chr8:11565530-11565580	GM12892	blood:	n/a
21	chr8:11565530-11565580	K562	blood:	n/a
22	chr8:11565530-11565580	HCM	heart:	n/a
23	chr8:11565530-11565580	AG09319	gingival:	n/a
24	chr8:11565530-11565580	U87	brain:	n/a
25	chr8:11565530-11565580	HCT-116	colon:	n/a
26	chr8:11565530-11565580	HCF	heart:	n/a
27	chr8:11565530-11565580	GM19239	blood:	n/a
28	chr8:11565530-11565580	PFSK-1	brain:	n/a
29	chr8:11565530-11565580	NH-A	brain:	n/a
30	chr8:11565530-11565580	IMR90	lung:	fetal
31	chr8:11565530-11565580	NB4	blood:	n/a
32	chr8:11565530-11565580	PrEC	prostate:	n/a
33	chr8:11565530-11565580	SK-N-SH	brain:	n/a
34	chr8:11565530-11565580	BE2_C	brain:	n/a
35	chr8:11565530-11565580	HPAEpiC	pulmonary alveolar:	n/a
36	chr8:11565530-11565580	Hela-S3	cervix:	n/a
37	chr8:11565530-11565580	LNCaP	prostate:	n/a
38	chr8:11565530-11565580	GM12878	blood:	n/a
39	chr8:11565530-11565580	AG04450	lung:	fetal
40	chr8:11565530-11565580	H1-hESC	embryonic stem cell:	embryo
41	chr8:11565530-11565580	ECC-1	luminal epithelium:	n/a
42	chr8:11565530-11565580	T-47D	breast:	n/a
43	chr8:11565530-11565580	BJ	skin:	n/a
44	chr8:11565530-11565580	HNPCEpiC	eye:	n/a
45	chr8:11565530-11565580	RPTEC	kidney:	n/a
46	chr8:11565530-11565580	A549	lung:	n/a
47	chr8:11565530-11565580	SK-N-MC	brain:	n/a
48	chr8:11565530-11565580	Hepatocyte	liver:	n/a
49	chr8:11565530-11565580	HL-60	blood:	n/a
50	chr8:11565530-11565580	GM12891	blood:	n/a

Variant related genes	Relation type
GATA4	TF binding region
GATA4	CpG island

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv6079	chr8:11564157-11573046	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3415599	chr8:11565343-11567591	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11560400-11568400	Active TSS	Right Atrium	heart
2	chr8:11560600-11565800	Active TSS	Right Ventricle	heart
3	chr8:11561400-11565800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
4	chr8:11562800-11567400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:11563200-11565800	Bivalent/Poised TSS	Fetal Stomach	stomach
6	chr8:11563200-11568200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr8:11563600-11565800	Active TSS	Fetal Heart	heart
8	chr8:11564200-11568000	Active TSS	Left Ventricle	heart
9	chr8:11564200-11568600	Active TSS	Pancreas	Pancrea
10	chr8:11564800-11565800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
11	chr8:11564800-11567000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
12	chr8:11564800-11567200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr8:11565000-11565600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:11565000-11565800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
15	chr8:11565000-11566000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr8:11565000-11566000	Enhancers	Liver	Liver
17	chr8:11565000-11568200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:11565200-11565600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
19	chr8:11565200-11565600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:11565200-11565600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr8:11565200-11565800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
22	chr8:11565200-11565800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr8:11565200-11565800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
24	chr8:11565200-11565800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
25	chr8:11565200-11566000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr8:11565200-11566000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
27	chr8:11565200-11566000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
28	chr8:11565200-11566000	Bivalent Enhancer	Lung	lung
29	chr8:11565200-11566000	Bivalent/Poised TSS	Stomach Mucosa	stomach
30	chr8:11565200-11566200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:11565200-11566200	Bivalent Enhancer	Spleen	Spleen
32	chr8:11565400-11565600	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
33	chr8:11565400-11565600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
34	chr8:11565400-11565600	Bivalent Enhancer	Primary T cells from cord blood	blood
35	chr8:11565400-11565600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:11565400-11565600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
37	chr8:11565400-11565800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr8:11565400-11565800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr8:11565400-11565800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
40	chr8:11565400-11565800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
41	chr8:11565400-11565800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:11565400-11565800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:11565400-11565800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr8:11565400-11565800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
45	chr8:11565400-11566000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
46	chr8:11565400-11566000	Bivalent Enhancer	Brain Germinal Matrix	brain
47	chr8:11565400-11566000	Bivalent Enhancer	Psoas Muscle	Psoas
48	chr8:11565400-11566200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
49	chr8:11565400-11566200	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr8:11565400-11566200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain

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