Variant report

Variant	rs531388553
Chromosome Location	chr1:95391215-95391216
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	CTCF	chr1:95391160-95391310	HPF	lung:	n/a	chr1:95391265-95391274
2	YY1	chr1:95391128-95391539	H1-hESC	embryonic stem cell:	n/a	chr1:95391220-95391231
3	POLR2A	chr1:95390987-95392084	HepG2	liver:	n/a	n/a
4	EP300	chr1:95391076-95391672	ECC-1	luminal epithelium:	n/a	chr1:95391622-95391632
5	POLR2A	chr1:95391041-95393236	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr1:95391042-95393592	H1-hESC	embryonic stem cell:	n/a	n/a
7	EBF1	chr1:95390917-95391348	GM12878	blood:	n/a	chr1:95391155-95391164 chr1:95391154-95391165 chr1:95391154-95391164 chr1:95391153-95391166
8	RAD21	chr1:95391089-95392829	H1-hESC	embryonic stem cell:	n/a	chr1:95391964-95391976
9	ELF1	chr1:95391115-95391498	GM12878	blood:	n/a	n/a
10	REST	chr1:95391211-95391486	SK-N-SH	brain:	n/a	n/a
11	NANOG	chr1:95391155-95391515	H1-hESC	embryonic stem cell:	n/a	n/a
12	RAD21	chr1:95390991-95391721	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr1:95391125-95392074	ProgFib	skin:	n/a	n/a
14	CTCF	chr1:95391080-95391230	HAc	cerebellar:	n/a	n/a
15	EBF1	chr1:95390969-95391394	GM12878	blood:	n/a	chr1:95391155-95391164 chr1:95391154-95391165 chr1:95391154-95391164 chr1:95391153-95391166
16	POLR2A	chr1:95391017-95391638	H1-hESC	embryonic stem cell:	n/a	n/a
17	SIN3A	chr1:95390628-95393664	H1-hESC	embryonic stem cell:	n/a	chr1:95391947-95391956 chr1:95392333-95392342
18	RAD21	chr1:95391123-95391533	H1-hESC	embryonic stem cell:	n/a	n/a
19	RUNX3	chr1:95391011-95391493	GM12878	blood:	n/a	n/a
20	JUN	chr1:95391147-95391668	H1-hESC	embryonic stem cell:	n/a	chr1:95391442-95391455
21	RUNX3	chr1:95390988-95391458	GM12878	blood:	n/a	n/a
22	MYBL2	chr1:95391011-95391664	HepG2	liver:	n/a	n/a
23	CTCF	chr1:95391005-95392890	A549	lung:	n/a	chr1:95392709-95392722 chr1:95392762-95392775 chr1:95391265-95391274
24	MYBL2	chr1:95391094-95391741	HepG2	liver:	n/a	n/a
25	TAF1	chr1:95391050-95392095	H1-neurons	neurons:	n/a	n/a
26	HDAC2	chr1:95391133-95391635	HepG2	liver:	n/a	n/a
27	POLR2A	chr1:95390976-95393237	HUVEC	blood vessel:	n/a	n/a
28	CTCF	chr1:95391160-95391310	HCT-116	colon:	n/a	chr1:95391265-95391274
29	TBP	chr1:95391080-95392030	HepG2	liver:	n/a	n/a
30	FOS	chr1:95391022-95392444	HUVEC	blood vessel:	n/a	n/a
31	SIN3AK20	chr1:95391017-95393248	SK-N-SH	brain:	n/a	n/a
32	MAX	chr1:95391005-95391628	ECC-1	luminal epithelium:	n/a	n/a
33	TAF7	chr1:95390989-95393385	H1-hESC	embryonic stem cell:	n/a	n/a
34	RAD21	chr1:95391096-95392184	SK-N-SH_RA	brain:	n/a	chr1:95391964-95391976
35	TAF1	chr1:95390984-95393638	H1-hESC	embryonic stem cell:	n/a	n/a
36	BRCA1	chr1:95390838-95391705	H1-hESC	embryonic stem cell:	n/a	n/a
37	TAF1	chr1:95391200-95391565	SK-N-SH	brain:	n/a	n/a
38	TAF1	chr1:95390988-95392913	ECC-1	luminal epithelium:	n/a	n/a
39	POLR2A	chr1:95391207-95391313	A549	lung:	n/a	n/a
40	CTCF	chr1:95391100-95391250	AG04450	lung:	n/a	n/a
41	TAF1	chr1:95391163-95391504	HepG2	liver:	n/a	n/a
42	POLR2A	chr1:95391125-95391533	HepG2	liver:	n/a	n/a
43	CHD1	chr1:95390400-95392702	H1-hESC	embryonic stem cell:	n/a	n/a
44	MXI1	chr1:95390217-95393728	IMR90	lung:	n/a	chr1:95393426-95393435 chr1:95393424-95393433
45	CTCF	chr1:95391200-95391350	HUVEC	blood vessel:	n/a	chr1:95391265-95391274
46	TAF1	chr1:95391131-95393049	SK-N-SH	brain:	n/a	n/a
47	POLR2A	chr1:95391045-95391998	HepG2	liver:	n/a	n/a
48	JUND	chr1:95391034-95393670	H1-hESC	embryonic stem cell:	n/a	n/a
49	SP1	chr1:95391076-95391716	H1-hESC	embryonic stem cell:	n/a	chr1:95391405-95391426
50	TEAD4	chr1:95391038-95391986	ECC-1	luminal epithelium:	n/a	n/a

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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95387000-95395400	Active TSS	Aorta	Aorta
2	chr1:95388400-95393600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:95389400-95391600	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr1:95389600-95393400	Active TSS	Brain Anterior Caudate	brain
5	chr1:95389600-95393600	Active TSS	Brain Substantia Nigra	brain
6	chr1:95389600-95393600	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr1:95389600-95395000	Active TSS	Ovary	ovary
8	chr1:95389600-95395000	Active TSS	Right Atrium	heart
9	chr1:95389800-95393000	Active TSS	NH-A	brain
10	chr1:95389800-95393600	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr1:95389800-95393600	Active TSS	NHLF	lung
12	chr1:95389800-95395200	Active TSS	HSMMtube	muscle
13	chr1:95390000-95392200	Active TSS	Colonic Mucosa	Colon
14	chr1:95390000-95393200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:95390000-95393200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:95390000-95393200	Active TSS	Muscle Satellite Cultured Cells	--
17	chr1:95390000-95393200	Active TSS	NHDF-Ad	bronchial
18	chr1:95390000-95393400	Active TSS	HMEC	breast
19	chr1:95390000-95393600	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr1:95390000-95393600	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr1:95390000-95393600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:95390000-95393800	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr1:95390000-95393800	Active TSS	Right Ventricle	heart
24	chr1:95390000-95394000	Active TSS	Sigmoid Colon	Sigmoid Colon
25	chr1:95390000-95394200	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr1:95390000-95394200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:95390000-95394600	Active TSS	Lung	lung
28	chr1:95390200-95393000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:95390200-95393600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:95390200-95393600	Active TSS	Esophagus	oesophagus
31	chr1:95390200-95393600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
32	chr1:95390200-95393600	Active TSS	Left Ventricle	heart
33	chr1:95390200-95395400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr1:95390400-95393200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr1:95390400-95393200	Active TSS	Fetal Muscle Leg	muscle
36	chr1:95390400-95393200	Active TSS	Fetal Stomach	stomach
37	chr1:95390400-95393200	Active TSS	Placenta Amnion	Placenta Amnion
38	chr1:95390400-95393600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:95390400-95393600	Active TSS	Fetal Muscle Trunk	muscle
40	chr1:95390400-95393800	Active TSS	Duodenum Mucosa	Duodenum
41	chr1:95390400-95394400	Active TSS	H1 Cell Line	embryonic stem cell
42	chr1:95390400-95394400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:95390600-95391400	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
44	chr1:95390600-95391600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr1:95390600-95392200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr1:95390600-95393000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
47	chr1:95390600-95393000	Bivalent/Poised TSS	Thymus	Thymus
48	chr1:95390600-95393200	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr1:95390600-95393200	Active TSS	Pancreas	Pancrea
50	chr1:95390600-95393600	Active TSS	H9 Cell Line	embryonic stem cell

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