Variant report

Variant	rs6757363
Chromosome Location	chr2:47453019-47453020
allele	A/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	SP1	chr2:47452434-47453137	A549	lung:	n/a	chr2:47452789-47452799 chr2:47452789-47452798
2	MAX	chr2:47452472-47453099	SK-N-SH	brain:	n/a	n/a
3	TCF12	chr2:47452336-47453145	ECC-1	luminal epithelium:	n/a	chr2:47452699-47452709 chr2:47452703-47452710
4	PBX3	chr2:47452383-47453113	SK-N-SH	brain:	n/a	n/a
5	KAP1	chr2:47452632-47454290	U2OS	brain:	n/a	n/a
6	PBX3	chr2:47452381-47453174	SK-N-SH	brain:	n/a	n/a
7	SP1	chr2:47452447-47453099	A549	lung:	n/a	chr2:47452789-47452799 chr2:47452789-47452798
8	FOSL2	chr2:47452479-47453100	SK-N-SH	brain:	n/a	n/a
9	EP300	chr2:47452328-47453148	ECC-1	luminal epithelium:	n/a	chr2:47452881-47452891
10	POLR2A	chr2:47452411-47453047	PANC-1	pancreas:	n/a	n/a
11	EP300	chr2:47452485-47453179	SK-N-SH	brain:	n/a	chr2:47452881-47452891
12	FOXA1	chr2:47452382-47453083	HepG2	liver:	n/a	n/a
13	SP1	chr2:47452391-47453083	HepG2	liver:	n/a	chr2:47452789-47452799 chr2:47452789-47452798
14	MAX	chr2:47452423-47453121	A549	lung:	n/a	n/a
15	EP300	chr2:47452372-47453078	HepG2	liver:	n/a	chr2:47452881-47452891
16	RCOR1	chr2:47452389-47453835	IMR90	lung:	n/a	n/a
17	MAX	chr2:47452470-47453105	SK-N-SH	brain:	n/a	n/a
18	RAD21	chr2:47452530-47453032	SK-N-SH_RA	brain:	n/a	chr2:47452702-47452716
19	TEAD4	chr2:47452307-47453196	SK-N-SH	brain:	n/a	n/a
20	GATA3	chr2:47452325-47453144	SK-N-SH	brain:	n/a	n/a
21	BHLHE40	chr2:47452298-47453165	HepG2	liver:	n/a	chr2:47452700-47452716
22	JUND	chr2:47452371-47453171	SK-N-SH	brain:	n/a	n/a
23	NFIC	chr2:47452322-47453185	SK-N-SH	brain:	n/a	chr2:47452853-47452881 chr2:47452854-47452871 chr2:47452853-47452869 chr2:47452853-47452870 chr2:47452855-47452871
24	TEAD4	chr2:47452413-47453129	SK-N-SH	brain:	n/a	n/a
25	TEAD4	chr2:47452474-47453121	K562	blood:	n/a	n/a
26	NFIC	chr2:47452352-47453176	HepG2	liver:	n/a	chr2:47452853-47452881 chr2:47452854-47452871 chr2:47452853-47452869 chr2:47452853-47452870 chr2:47452855-47452871
27	EP300	chr2:47452275-47453197	SK-N-SH	brain:	n/a	chr2:47452881-47452891
28	MYBL2	chr2:47452167-47453237	HepG2	liver:	n/a	n/a
29	TEAD4	chr2:47452432-47453066	ECC-1	luminal epithelium:	n/a	n/a
30	RXRA	chr2:47452274-47453162	SK-N-SH	brain:	n/a	n/a
31	MBD4	chr2:47452397-47453261	HepG2	liver:	n/a	n/a
32	FOSL2	chr2:47452411-47453028	HepG2	liver:	n/a	n/a
33	RXRA	chr2:47452387-47453070	SK-N-SH	brain:	n/a	n/a
34	GATA3	chr2:47452333-47453183	SK-N-SH	brain:	n/a	chr2:47453164-47453177
35	TEAD4	chr2:47452414-47453083	ECC-1	luminal epithelium:	n/a	n/a
36	POLR2A	chr2:47452444-47453052	SK-N-SH	brain:	n/a	n/a
37	RCOR1	chr2:47452515-47453143	HepG2	liver:	n/a	n/a
38	NFIC	chr2:47452370-47453229	ECC-1	luminal epithelium:	n/a	chr2:47452853-47452881 chr2:47452854-47452871 chr2:47452853-47452869 chr2:47452853-47452870 chr2:47452855-47452871
39	FOSL2	chr2:47452450-47453039	SK-N-SH	brain:	n/a	n/a
40	MXI1	chr2:47452411-47453058	HepG2	liver:	n/a	n/a
41	ZC3H11A	chr2:47452869-47453155	K562	blood:	n/a	n/a
42	TCF12	chr2:47452317-47453224	ECC-1	luminal epithelium:	n/a	chr2:47452699-47452709 chr2:47452703-47452710
43	HCFC1	chr2:47452837-47453037	K562	blood:	n/a	n/a
44	POLR2A	chr2:47452436-47453118	HUVEC	blood vessel:	n/a	n/a
45	MYBL2	chr2:47452416-47453100	HepG2	liver:	n/a	n/a
46	TEAD4	chr2:47452306-47453195	HepG2	liver:	n/a	n/a
47	MBD4	chr2:47452407-47453246	HepG2	liver:	n/a	n/a
48	EP300	chr2:47452408-47453053	HepG2	liver:	n/a	chr2:47452881-47452891
49	NFIC	chr2:47452273-47453424	SK-N-SH	brain:	n/a	chr2:47452853-47452881 chr2:47452854-47452871 chr2:47452853-47452869 chr2:47452853-47452870 chr2:47452855-47452871
50	SIN3AK20	chr2:47452529-47453028	SK-N-SH	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:47452985-47453035	AG10803	skin:	n/a
2	chr2:47452985-47453035	SKMC	muscle:	n/a
3	chr2:47452985-47453035	U87	brain:	n/a
4	chr2:47452985-47453035	HRE	kidney:	n/a
5	chr2:47452985-47453035	NT2-D1	testis:	n/a
6	chr2:47452985-47453035	CMK	blood:	n/a
7	chr2:47452985-47453035	SK-N-SH_RA	brain:	n/a
8	chr2:47452985-47453035	A549	lung:	n/a
9	chr2:47452985-47453035	HL-60	blood:	n/a
10	chr2:47452985-47453035	SK-N-MC	brain:	n/a
11	chr2:47452985-47453035	Hepatocyte	liver:	n/a
12	chr2:47452985-47453035	AoSMC	blood vessel:	n/a
13	chr2:47452985-47453035	Jurkat	blood:	n/a
14	chr2:47452985-47453035	HCM	heart:	n/a
15	chr2:47452985-47453035	Caco-2	colon:	n/a
16	chr2:47452985-47453035	HCF	heart:	n/a
17	chr2:47452985-47453035	NHBE	bronchial:	n/a
18	chr2:47452985-47453035	BJ	skin:	n/a
19	chr2:47452985-47453035	K562	blood:	n/a
20	chr2:47452985-47453035	HCT-116	colon:	n/a
21	chr2:47452985-47453035	HMEC	breast:	n/a
22	chr2:47452985-47453035	AG04449	skin:	fetal
23	chr2:47452985-47453035	GM12892	blood:	n/a
24	chr2:47452985-47453035	AG04450	lung:	fetal
25	chr2:47452985-47453035	IMR90	lung:	fetal
26	chr2:47452985-47453035	H1-hESC	embryonic stem cell:	embryo
27	chr2:47452985-47453035	HEK293	kidney:	embryo
28	chr2:47452985-47453035	HIPEpiC	eye:	n/a
29	chr2:47452985-47453035	ProgFib	skin:	n/a
30	chr2:47452985-47453035	PANC-1	pancreas:	n/a
31	chr2:47452985-47453035	PrEC	prostate:	n/a
32	chr2:47452985-47453035	HEEpiC	esophagus:	n/a
33	chr2:47452985-47453035	HRPEpiC	eye:	n/a
34	chr2:47452985-47453035	HepG2	liver:	n/a
35	chr2:47452985-47453035	HNPCEpiC	eye:	n/a
36	chr2:47452985-47453035	ECC-1	luminal epithelium:	n/a
37	chr2:47452985-47453035	NHDF-neo	bronchial:	n/a
38	chr2:47452985-47453035	ovcar-3	ovarian:	n/a
39	chr2:47452985-47453035	T-47D	breast:	n/a
40	chr2:47452985-47453035	MCF-7	breast:	n/a
41	chr2:47452985-47453035	HCPEpiC	choroid plexus:	n/a
42	chr2:47452985-47453035	AG09319	gingival:	n/a
43	chr2:47452985-47453035	LNCaP	prostate:	n/a
44	chr2:47452985-47453035	HAEpiC	amniotic membrane:	n/a
45	chr2:47452985-47453035	GM12878	blood:	n/a
46	chr2:47452985-47453035	AG09309	skin:	n/a
47	chr2:47452985-47453035	GM06990	blood:	n/a
48	chr2:47452985-47453035	NH-A	brain:	n/a
49	chr2:47452985-47453035	HRCEpiC	kidney:	n/a
50	chr2:47452985-47453035	BE2_C	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:47399756..47406251-chr2:47447036..47455846,12	MCF-7	breast:
2	chr2:47451335..47453658-chr2:47453697..47456326,2	MCF-7	breast:
3	chr2:47399705..47406684-chr2:47448496..47456698,16	K562	blood:
4	chr2:47399705..47405092-chr2:47450546..47458227,19	K562	blood:

Variant related genes	Relation type
ENSG00000226087	TF binding region
ENSG00000226087	CpG island
ENSG00000226087	Chromatin interaction
ENSG00000143933	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs13013543	1.00[CHD][hapmap]
rs13013607	1.00[CHD][hapmap]
rs34769661	1.00[EUR][1000 genomes]
rs34927589	1.00[EUR][1000 genomes]
rs56873071	1.00[EUR][1000 genomes]
rs6544971	1.00[EUR][1000 genomes]
rs6750222	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	esv10649	chr2:47429316-47472670	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS 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	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47447200-47455400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:47447600-47455000	Enhancers	NHLF	lung
3	chr2:47448000-47455400	Enhancers	Fetal Muscle Leg	muscle
4	chr2:47448800-47454200	Enhancers	Colon Smooth Muscle	Colon
5	chr2:47449600-47453600	Enhancers	Fetal Muscle Trunk	muscle
6	chr2:47450000-47454000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:47450000-47455600	Enhancers	Fetal Intestine Small	intestine
8	chr2:47450000-47455800	Enhancers	K562	blood
9	chr2:47450000-47456000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:47450200-47453600	Enhancers	Osteobl	bone
11	chr2:47450200-47454600	Enhancers	Liver	Liver
12	chr2:47450200-47455600	Enhancers	Fetal Intestine Large	intestine
13	chr2:47450400-47453600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:47450600-47454000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:47450800-47454200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:47451000-47453800	Enhancers	HUVEC	blood vessel
17	chr2:47451000-47455600	Enhancers	Placenta	Placenta
18	chr2:47451200-47454000	Enhancers	NHDF-Ad	bronchial
19	chr2:47451600-47453400	Enhancers	Colonic Mucosa	Colon
20	chr2:47451600-47453800	Enhancers	Spleen	Spleen
21	chr2:47451600-47453800	Enhancers	NH-A	brain
22	chr2:47451600-47454000	Enhancers	Left Ventricle	heart
23	chr2:47451600-47454000	Enhancers	Psoas Muscle	Psoas
24	chr2:47451600-47454600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:47451800-47453600	Enhancers	Hela-S3	cervix
26	chr2:47451800-47453800	Enhancers	Right Atrium	heart
27	chr2:47452000-47453800	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr2:47452000-47454000	Enhancers	Adipose Nuclei	Adipose
29	chr2:47452200-47453200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr2:47452200-47453200	Enhancers	Aorta	Aorta
31	chr2:47452200-47453400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr2:47452200-47453600	Enhancers	Right Ventricle	heart
33	chr2:47452200-47453800	Enhancers	Small Intestine	intestine
34	chr2:47452200-47453800	Flanking Active TSS	HepG2	liver
35	chr2:47452200-47454000	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr2:47452200-47454000	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr2:47452200-47454200	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr2:47452200-47454200	Enhancers	Ovary	ovary
39	chr2:47452200-47455400	Enhancers	Brain Hippocampus Middle	brain
40	chr2:47452200-47455800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr2:47452400-47453200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:47452400-47453200	Enhancers	Gastric	stomach
43	chr2:47452400-47453200	Enhancers	Lung	lung
44	chr2:47452400-47453200	Enhancers	Stomach Smooth Muscle	stomach
45	chr2:47452400-47453200	Enhancers	HMEC	breast
46	chr2:47452400-47453600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:47452400-47453600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:47452400-47453600	Enhancers	Duodenum Mucosa	Duodenum
49	chr2:47452400-47453600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr2:47452400-47453800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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