Variant report

Variant	rs532760727
Chromosome Location	chr1:95391118-95391119
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	POLR2A	chr1:95390987-95392084	HepG2	liver:	n/a	n/a
2	EP300	chr1:95391076-95391672	ECC-1	luminal epithelium:	n/a	chr1:95391622-95391632
3	POLR2A	chr1:95391041-95393236	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr1:95391042-95393592	H1-hESC	embryonic stem cell:	n/a	n/a
5	EBF1	chr1:95390917-95391348	GM12878	blood:	n/a	chr1:95391155-95391164 chr1:95391154-95391165 chr1:95391154-95391164 chr1:95391153-95391166
6	RAD21	chr1:95391089-95392829	H1-hESC	embryonic stem cell:	n/a	chr1:95391964-95391976
7	ELF1	chr1:95391115-95391498	GM12878	blood:	n/a	n/a
8	RAD21	chr1:95390991-95391721	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr1:95391080-95391230	HAc	cerebellar:	n/a	n/a
10	EBF1	chr1:95390969-95391394	GM12878	blood:	n/a	chr1:95391155-95391164 chr1:95391154-95391165 chr1:95391154-95391164 chr1:95391153-95391166
11	POLR2A	chr1:95391017-95391638	H1-hESC	embryonic stem cell:	n/a	n/a
12	SIN3A	chr1:95390628-95393664	H1-hESC	embryonic stem cell:	n/a	chr1:95391947-95391956 chr1:95392333-95392342
13	RUNX3	chr1:95391011-95391493	GM12878	blood:	n/a	n/a
14	RUNX3	chr1:95390988-95391458	GM12878	blood:	n/a	n/a
15	MYBL2	chr1:95391011-95391664	HepG2	liver:	n/a	n/a
16	CTCF	chr1:95391005-95392890	A549	lung:	n/a	chr1:95392709-95392722 chr1:95392762-95392775 chr1:95391265-95391274
17	MYBL2	chr1:95391094-95391741	HepG2	liver:	n/a	n/a
18	TAF1	chr1:95391050-95392095	H1-neurons	neurons:	n/a	n/a
19	POLR2A	chr1:95390976-95393237	HUVEC	blood vessel:	n/a	n/a
20	TBP	chr1:95391080-95392030	HepG2	liver:	n/a	n/a
21	FOS	chr1:95391022-95392444	HUVEC	blood vessel:	n/a	n/a
22	SIN3AK20	chr1:95391017-95393248	SK-N-SH	brain:	n/a	n/a
23	MAX	chr1:95391005-95391628	ECC-1	luminal epithelium:	n/a	n/a
24	TAF7	chr1:95390989-95393385	H1-hESC	embryonic stem cell:	n/a	n/a
25	RAD21	chr1:95391096-95392184	SK-N-SH_RA	brain:	n/a	chr1:95391964-95391976
26	TAF1	chr1:95390984-95393638	H1-hESC	embryonic stem cell:	n/a	n/a
27	BRCA1	chr1:95390838-95391705	H1-hESC	embryonic stem cell:	n/a	n/a
28	TAF1	chr1:95390988-95392913	ECC-1	luminal epithelium:	n/a	n/a
29	CTCF	chr1:95391100-95391250	AG04450	lung:	n/a	n/a
30	CHD1	chr1:95390400-95392702	H1-hESC	embryonic stem cell:	n/a	n/a
31	MXI1	chr1:95390217-95393728	IMR90	lung:	n/a	chr1:95393426-95393435 chr1:95393424-95393433
32	POLR2A	chr1:95391045-95391998	HepG2	liver:	n/a	n/a
33	JUND	chr1:95391034-95393670	H1-hESC	embryonic stem cell:	n/a	n/a
34	SP1	chr1:95391076-95391716	H1-hESC	embryonic stem cell:	n/a	chr1:95391405-95391426
35	TEAD4	chr1:95391038-95391986	ECC-1	luminal epithelium:	n/a	n/a
36	GTF2F1	chr1:95390811-95392067	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAX	chr1:95391058-95391623	SK-N-SH	brain:	n/a	n/a
38	NFIC	chr1:95390944-95391656	ECC-1	luminal epithelium:	n/a	n/a
39	POLR2A	chr1:95391093-95393265	HUVEC	blood vessel:	n/a	n/a
40	POLR2A	chr1:95390771-95393144	HUVEC	blood vessel:	n/a	n/a
41	POLR2A	chr1:95390227-95394539	HepG2	liver:	n/a	n/a
42	YY1	chr1:95391107-95391625	ECC-1	luminal epithelium:	n/a	chr1:95391220-95391231
43	MXI1	chr1:95390079-95394077	SK-N-SH	brain:	n/a	chr1:95393426-95393435 chr1:95393424-95393433
44	POLR2A	chr1:95391046-95391767	SK-N-MC	brain:	n/a	n/a
45	JUND	chr1:95391111-95391613	H1-hESC	embryonic stem cell:	n/a	n/a
46	JUND	chr1:95391061-95391793	SK-N-SH	brain:	n/a	n/a
47	MAX	chr1:95391053-95393624	HepG2	liver:	n/a	chr1:95392705-95392715 chr1:95393421-95393436 chr1:95392831-95392841 chr1:95392768-95392778 chr1:95393424-95393434 chr1:95393042-95393052 chr1:95393425-95393434 chr1:95393423-95393438
48	SP4	chr1:95391076-95391700	H1-hESC	embryonic stem cell:	n/a	n/a
49	KAP1	chr1:95390606-95391924	U2OS	brain:	n/a	n/a
50	ZNF263	chr1:95390886-95392125	HEK293-T-REx	kidney:	n/a	chr1:95391471-95391492 chr1:95391473-95391482

Variant related genes	Relation type
ENSG00000235501	TF binding region
CNN3	TF binding region

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv947291	chr1:95382933-95393244	Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3389010	chr1:95390889-95394337	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95387000-95395400	Active TSS	Aorta	Aorta
2	chr1:95388400-95391200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:95388400-95393600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:95389400-95391600	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr1:95389600-95391200	Active TSS	Psoas Muscle	Psoas
6	chr1:95389600-95393400	Active TSS	Brain Anterior Caudate	brain
7	chr1:95389600-95393600	Active TSS	Brain Substantia Nigra	brain
8	chr1:95389600-95393600	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr1:95389600-95395000	Active TSS	Ovary	ovary
10	chr1:95389600-95395000	Active TSS	Right Atrium	heart
11	chr1:95389800-95391200	Flanking Active TSS	HUVEC	blood vessel
12	chr1:95389800-95393000	Active TSS	NH-A	brain
13	chr1:95389800-95393600	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr1:95389800-95393600	Active TSS	NHLF	lung
15	chr1:95389800-95395200	Active TSS	HSMMtube	muscle
16	chr1:95390000-95392200	Active TSS	Colonic Mucosa	Colon
17	chr1:95390000-95393200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:95390000-95393200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:95390000-95393200	Active TSS	Muscle Satellite Cultured Cells	--
20	chr1:95390000-95393200	Active TSS	NHDF-Ad	bronchial
21	chr1:95390000-95393400	Active TSS	HMEC	breast
22	chr1:95390000-95393600	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr1:95390000-95393600	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr1:95390000-95393600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:95390000-95393800	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr1:95390000-95393800	Active TSS	Right Ventricle	heart
27	chr1:95390000-95394000	Active TSS	Sigmoid Colon	Sigmoid Colon
28	chr1:95390000-95394200	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr1:95390000-95394200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:95390000-95394600	Active TSS	Lung	lung
31	chr1:95390200-95391200	Weak transcription	Spleen	Spleen
32	chr1:95390200-95393000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:95390200-95393600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr1:95390200-95393600	Active TSS	Esophagus	oesophagus
35	chr1:95390200-95393600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
36	chr1:95390200-95393600	Active TSS	Left Ventricle	heart
37	chr1:95390200-95395400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:95390400-95391200	Active TSS	Brain Germinal Matrix	brain
39	chr1:95390400-95391200	Flanking Active TSS	Brain Hippocampus Middle	brain
40	chr1:95390400-95393200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr1:95390400-95393200	Active TSS	Fetal Muscle Leg	muscle
42	chr1:95390400-95393200	Active TSS	Fetal Stomach	stomach
43	chr1:95390400-95393200	Active TSS	Placenta Amnion	Placenta Amnion
44	chr1:95390400-95393600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:95390400-95393600	Active TSS	Fetal Muscle Trunk	muscle
46	chr1:95390400-95393800	Active TSS	Duodenum Mucosa	Duodenum
47	chr1:95390400-95394400	Active TSS	H1 Cell Line	embryonic stem cell
48	chr1:95390400-95394400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:95390600-95391200	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:95390600-95391200	Bivalent Enhancer	Primary B cells from cord blood	blood

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