Variant report

Variant	rs7543376
Chromosome Location	chr1:211753489-211753490
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	TEAD4	chr1:211752844-211753527	K562	blood:	n/a	n/a
2	CREB1	chr1:211750869-211753695	K562	blood:	n/a	n/a
3	TBL1XR1	chr1:211752351-211753694	K562	blood:	n/a	n/a
4	CBX3	chr1:211752888-211753516	K562	blood:	n/a	n/a
5	FOXA1	chr1:211752350-211753620	HepG2	liver:	n/a	n/a
6	RFX5	chr1:211752199-211753647	Hela-S3	cervix:	n/a	chr1:211753502-211753516 chr1:211753505-211753514
7	CEBPD	chr1:211752810-211753593	K562	blood:	n/a	n/a
8	TAL1	chr1:211753019-211753527	K562	blood:	n/a	n/a
9	GATA2	chr1:211753005-211753596	K562	blood:	n/a	n/a
10	TCF7L2	chr1:211752760-211753530	HEK293	kidney:	n/a	chr1:211752944-211752953 chr1:211752945-211752955 chr1:211752942-211752956
11	FOXA1	chr1:211752741-211753603	HepG2	liver:	n/a	n/a
12	POLR2A	chr1:211750309-211753857	K562	blood:	n/a	n/a
13	MXI1	chr1:211749213-211753952	SK-N-SH	brain:	n/a	n/a
14	FOXA1	chr1:211752748-211753599	HepG2	liver:	n/a	n/a
15	MAX	chr1:211750770-211753489	A549	lung:	n/a	chr1:211752598-211752608 chr1:211752767-211752776
16	SP1	chr1:211752103-211753495	HCT-116	colon:	n/a	chr1:211752739-211752748 chr1:211752738-211752748 chr1:211752737-211752749 chr1:211752597-211752608 chr1:211752711-211752720 chr1:211752839-211752848 chr1:211753013-211753022 chr1:211753012-211753024 chr1:211753013-211753023 chr1:211752711-211752721 chr1:211752834-211752848 chr1:211752739-211752748 chr1:211752710-211752722 chr1:211752598-211752607 chr1:211752710-211752722 chr1:211753014-211753023 chr1:211752738-211752747 chr1:211752712-211752721 chr1:211752597-211752609 chr1:211752837-211752849 chr1:211752712-211752721 chr1:211752837-211752849 chr1:211752711-211752721 chr1:211752838-211752848 chr1:211752599-211752608 chr1:211753012-211753024 chr1:211752259-211752273 chr1:211753164-211753174 chr1:211752838-211752847 chr1:211752598-211752608 chr1:211752738-211752748 chr1:211752707-211752721 chr1:211752598-211752608 chr1:211752597-211752609 chr1:211752734-211752748 chr1:211752737-211752749
17	POLR2A	chr1:211752240-211753654	HepG2	liver:	n/a	n/a
18	MXI1	chr1:211751009-211753775	HepG2	liver:	n/a	n/a
19	PML	chr1:211752029-211753631	GM12878	blood:	n/a	n/a
20	POLR2A	chr1:211750987-211753647	K562	blood:	n/a	n/a
21	MAZ	chr1:211750708-211753726	K562	blood:	n/a	chr1:211752598-211752608 chr1:211753505-211753514 chr1:211752767-211752776
22	MAX	chr1:211750830-211753563	NB4	blood:	n/a	chr1:211752598-211752608 chr1:211753505-211753514 chr1:211752767-211752776
23	HDAC2	chr1:211752311-211753553	HepG2	liver:	n/a	n/a
24	BHLHE40	chr1:211750870-211753535	K562	blood:	n/a	chr1:211751231-211751247 chr1:211751960-211751976 chr1:211752458-211752474 chr1:211751957-211751973 chr1:211751172-211751188
25	CEBPD	chr1:211752894-211753497	K562	blood:	n/a	n/a
26	POLR2A	chr1:211752217-211753991	HepG2	liver:	n/a	n/a
27	MAZ	chr1:211750225-211754017	IMR90	lung:	n/a	chr1:211752598-211752608 chr1:211753505-211753514 chr1:211752767-211752776
28	TBL1XR1	chr1:211752926-211753499	K562	blood:	n/a	n/a
29	NR2F2	chr1:211750771-211754050	K562	blood:	n/a	n/a
30	MAX	chr1:211750918-211753504	K562	blood:	n/a	chr1:211752598-211752608 chr1:211752767-211752776
31	HEY1	chr1:211752993-211753531	HepG2	liver:	n/a	chr1:211753019-211753034
32	POLR2A	chr1:211751752-211753522	K562	blood:	n/a	n/a
33	FOXA2	chr1:211752749-211753493	HepG2	liver:	n/a	n/a
34	POLR2A	chr1:211752108-211753640	MCF10A-Er-Src	breast:	n/a	n/a
35	CEBPB	chr1:211753174-211753508	K562	blood:	n/a	n/a
36	TEAD4	chr1:211752737-211753638	K562	blood:	n/a	n/a
37	RAD21	chr1:211750461-211753623	SK-N-SH	brain:	n/a	n/a
38	POLR2A	chr1:211750401-211753871	Hela-S3	cervix:	n/a	n/a
39	CREB1	chr1:211752235-211753515	HepG2	liver:	n/a	n/a
40	SP1	chr1:211752272-211753609	K562	blood:	n/a	chr1:211752739-211752748 chr1:211752738-211752748 chr1:211752737-211752749 chr1:211752597-211752608 chr1:211752711-211752720 chr1:211752839-211752848 chr1:211753013-211753022 chr1:211753012-211753024 chr1:211753013-211753023 chr1:211752711-211752721 chr1:211752834-211752848 chr1:211752739-211752748 chr1:211752710-211752722 chr1:211752598-211752607 chr1:211752710-211752722 chr1:211753014-211753023 chr1:211752738-211752747 chr1:211752712-211752721 chr1:211752597-211752609 chr1:211752837-211752849 chr1:211752712-211752721 chr1:211752837-211752849 chr1:211752711-211752721 chr1:211752838-211752848 chr1:211752599-211752608 chr1:211753012-211753024 chr1:211753164-211753174 chr1:211752838-211752847 chr1:211752598-211752608 chr1:211752738-211752748 chr1:211752707-211752721 chr1:211752598-211752608 chr1:211752597-211752609 chr1:211752734-211752748 chr1:211752737-211752749
41	CREB1	chr1:211750857-211753525	HepG2	liver:	n/a	n/a
42	HNF4G	chr1:211752751-211753528	HepG2	liver:	n/a	chr1:211752940-211752955 chr1:211752940-211752955 chr1:211752940-211752955
43	EP300	chr1:211752349-211753560	HepG2	liver:	n/a	chr1:211753030-211753046 chr1:211752914-211752923
44	UBTF	chr1:211750796-211753810	K562	blood:	n/a	n/a
45	SMC3	chr1:211752932-211753873	HepG2	liver:	n/a	n/a
46	MXI1	chr1:211750975-211753553	GM12878	blood:	n/a	n/a
47	MBD4	chr1:211752997-211753629	HepG2	liver:	n/a	n/a
48	IRF1	chr1:211752925-211753574	K562	blood:	n/a	chr1:211753012-211753026 chr1:211753163-211753177
49	POLR2A	chr1:211750839-211753821	GM12878	blood:	n/a	n/a
50	MAX	chr1:211750963-211753576	HepG2	liver:	n/a	chr1:211752598-211752608 chr1:211753505-211753514 chr1:211752767-211752776

No.	Distal block	Cell Line	Cell type
1	chr1:211750915..211755112-chr1:211826013..211829699,5	K562	blood:
2	chr1:211498857..211501622-chr1:211752568..211754249,2	K562	blood:
3	chr1:211749200..211754595-chr1:211816014..211824648,8	K562	blood:
4	chr1:211752607..211756285-chr1:211771490..211773503,3	K562	blood:
5	chr1:211752607..211754839-chr1:211771160..211773503,2	K562	blood:
6	chr1:211750794..211754252-chr1:211815868..211819773,4	MCF-7	breast:
7	chr1:211750060..211753695-chr1:211824093..211827463,4	MCF-7	breast:

Variant related genes	Relation type
SLC30A1	TF binding region
ENSG00000228792	Chromatin interaction
ENSG00000082512	Chromatin interaction
ENSG00000222080	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11119772	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12091351	0.92[JPT][hapmap]
rs12562288	0.92[JPT][hapmap]
rs17017739	0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17017782	1.00[JPT][hapmap]
rs2278652	0.92[JPT][hapmap]
rs3738198	0.92[JPT][hapmap]
rs58237495	0.93[ASN][1000 genomes]
rs58525100	0.93[ASN][1000 genomes]
rs58823330	0.93[ASN][1000 genomes]
rs59771307	0.93[ASN][1000 genomes]
rs60668234	0.93[ASN][1000 genomes]
rs609832	0.86[ASN][1000 genomes]
rs74137713	0.93[ASN][1000 genomes]
rs7519865	0.92[JPT][hapmap]
rs7530862	0.92[JPT][hapmap]
rs784837	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv1796467	chr1:211726975-211769893	Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv1840920	chr1:211726975-211769893	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv3374509	chr1:211750979-211753977	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	esv1791933	chr1:211751208-211755204	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
6	esv1793880	chr1:211751208-211755204	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
7	esv3403046	chr1:211751354-211754202	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
8	esv1799275	chr1:211751816-211754866	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 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	chr1:211749600-211753800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr1:211750400-211753600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:211752600-211753600	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr1:211753000-211753600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:211753000-211753600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr1:211753000-211753600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:211753000-211753600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
8	chr1:211753000-211753600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:211753000-211753600	Flanking Active TSS	Brain Cingulate Gyrus	brain
10	chr1:211753000-211753600	Flanking Active TSS	Brain Germinal Matrix	brain
11	chr1:211753000-211753600	Flanking Active TSS	Stomach Smooth Muscle	stomach
12	chr1:211753000-211753600	Flanking Active TSS	GM12878-XiMat	blood
13	chr1:211753000-211753600	Flanking Active TSS	HMEC	breast
14	chr1:211753000-211753600	Flanking Active TSS	NHLF	lung
15	chr1:211753000-211753600	Flanking Active TSS	Osteobl	bone
16	chr1:211753000-211753800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:211753000-211753800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr1:211753000-211753800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:211753000-211753800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
20	chr1:211753000-211753800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr1:211753200-211753600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:211753200-211753600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr1:211753200-211753600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr1:211753200-211753600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr1:211753200-211753600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr1:211753200-211753600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:211753200-211753600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:211753200-211753600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
29	chr1:211753200-211753600	Flanking Active TSS	Colon Smooth Muscle	Colon
30	chr1:211753200-211753600	Flanking Active TSS	Fetal Heart	heart
31	chr1:211753200-211753600	Flanking Active TSS	Fetal Stomach	stomach
32	chr1:211753200-211753600	Enhancers	Placenta Amnion	Placenta Amnion
33	chr1:211753200-211753600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr1:211753200-211753600	Flanking Active TSS	A549	lung
35	chr1:211753200-211753600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr1:211753200-211753600	Flanking Active TSS	NHEK	skin
37	chr1:211753200-211753800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr1:211753200-211753800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:211753200-211753800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr1:211753200-211753800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:211753200-211753800	Flanking Active TSS	Brain Substantia Nigra	brain
42	chr1:211753200-211753800	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr1:211753200-211753800	Flanking Active TSS	Fetal Intestine Large	intestine
44	chr1:211753200-211753800	Flanking Active TSS	Rectal Smooth Muscle	rectum
45	chr1:211753200-211753800	Flanking Active TSS	Hela-S3	cervix
46	chr1:211753200-211753800	Flanking Active TSS	K562	blood
47	chr1:211753200-211753800	Flanking Active TSS	NHDF-Ad	bronchial
48	chr1:211753200-211754000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
49	chr1:211753200-211754000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:211753200-211754000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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