Variant report

Variant	rs74101911
Chromosome Location	chr1:95391833-95391834
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	POLR2A	chr1:95390987-95392084	HepG2	liver:	n/a	n/a
2	RAD21	chr1:95391741-95392310	H1-hESC	embryonic stem cell:	n/a	chr1:95391964-95391976
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	RAD21	chr1:95391089-95392829	H1-hESC	embryonic stem cell:	n/a	chr1:95391964-95391976
6	POLR2A	chr1:95391125-95392074	ProgFib	skin:	n/a	n/a
7	SIN3A	chr1:95390628-95393664	H1-hESC	embryonic stem cell:	n/a	chr1:95391947-95391956 chr1:95392333-95392342
8	MAZ	chr1:95391822-95393214	HepG2	liver:	n/a	chr1:95392705-95392715 chr1:95392831-95392841 chr1:95392768-95392778 chr1:95393042-95393052
9	CTCF	chr1:95391780-95391930	HFF-Myc	foreskin:	n/a	n/a
10	TCF7L2	chr1:95391739-95393148	HCT-116	colon:	n/a	n/a
11	TAF1	chr1:95391687-95393004	H1-neurons	neurons:	n/a	n/a
12	CTCF	chr1:95391005-95392890	A549	lung:	n/a	chr1:95392709-95392722 chr1:95392762-95392775 chr1:95391265-95391274
13	TAF1	chr1:95391050-95392095	H1-neurons	neurons:	n/a	n/a
14	POLR2A	chr1:95390976-95393237	HUVEC	blood vessel:	n/a	n/a
15	TBP	chr1:95391080-95392030	HepG2	liver:	n/a	n/a
16	FOS	chr1:95391022-95392444	HUVEC	blood vessel:	n/a	n/a
17	SIN3AK20	chr1:95391017-95393248	SK-N-SH	brain:	n/a	n/a
18	CTCF	chr1:95391720-95391870	NHLF	lung:	n/a	n/a
19	TAF7	chr1:95390989-95393385	H1-hESC	embryonic stem cell:	n/a	n/a
20	RAD21	chr1:95391096-95392184	SK-N-SH_RA	brain:	n/a	chr1:95391964-95391976
21	YY1	chr1:95391815-95392163	SK-N-SH_RA	brain:	n/a	chr1:95391976-95391990 chr1:95391966-95391974 chr1:95391964-95391978 chr1:95392004-95392018
22	TAF1	chr1:95390984-95393638	H1-hESC	embryonic stem cell:	n/a	n/a
23	TAF1	chr1:95390988-95392913	ECC-1	luminal epithelium:	n/a	n/a
24	MAX	chr1:95391792-95393011	A549	lung:	n/a	chr1:95392705-95392715 chr1:95392831-95392841 chr1:95392768-95392778
25	CHD1	chr1:95390400-95392702	H1-hESC	embryonic stem cell:	n/a	n/a
26	MXI1	chr1:95390217-95393728	IMR90	lung:	n/a	chr1:95393426-95393435 chr1:95393424-95393433
27	TAF1	chr1:95391131-95393049	SK-N-SH	brain:	n/a	n/a
28	NFIC	chr1:95391389-95391954	HepG2	liver:	n/a	n/a
29	POLR2A	chr1:95391045-95391998	HepG2	liver:	n/a	n/a
30	YY1	chr1:95391709-95392139	H1-hESC	embryonic stem cell:	n/a	chr1:95391976-95391990 chr1:95391966-95391974 chr1:95391964-95391978 chr1:95392004-95392018
31	JUND	chr1:95391034-95393670	H1-hESC	embryonic stem cell:	n/a	n/a
32	TEAD4	chr1:95391038-95391986	ECC-1	luminal epithelium:	n/a	n/a
33	GTF2F1	chr1:95390811-95392067	H1-hESC	embryonic stem cell:	n/a	n/a
34	RAD21	chr1:95391796-95392212	H1-hESC	embryonic stem cell:	n/a	chr1:95391964-95391976
35	POLR2A	chr1:95391654-95392096	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr1:95391093-95393265	HUVEC	blood vessel:	n/a	n/a
37	EGR1	chr1:95391130-95393451	HCT-116	colon:	n/a	chr1:95392702-95392715 chr1:95393043-95393053 chr1:95392703-95392714 chr1:95392702-95392712 chr1:95392702-95392715 chr1:95392702-95392715 chr1:95392758-95392772 chr1:95392703-95392712 chr1:95392709-95392720 chr1:95392705-95392719 chr1:95392708-95392721 chr1:95392697-95392719 chr1:95392706-95392716 chr1:95392702-95392715
38	CTCF	chr1:95391651-95392774	IMR90	lung:	n/a	chr1:95392709-95392722
39	POLR2A	chr1:95390771-95393144	HUVEC	blood vessel:	n/a	n/a
40	POLR2A	chr1:95390227-95394539	HepG2	liver:	n/a	n/a
41	GATA2	chr1:95391313-95392081	HUVEC	blood vessel:	n/a	chr1:95391805-95391818
42	CTCF	chr1:95391817-95392244	H1-hESC	embryonic stem cell:	n/a	n/a
43	MXI1	chr1:95390079-95394077	SK-N-SH	brain:	n/a	chr1:95393426-95393435 chr1:95393424-95393433
44	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
45	ZBTB7A	chr1:95391166-95393289	ECC-1	luminal epithelium:	n/a	chr1:95392048-95392057
46	KAP1	chr1:95390606-95391924	U2OS	brain:	n/a	n/a
47	ZNF263	chr1:95390886-95392125	HEK293-T-REx	kidney:	n/a	chr1:95391471-95391492 chr1:95391473-95391482
48	HEY1	chr1:95391122-95391848	HepG2	liver:	n/a	n/a
49	MAX	chr1:95391057-95393432	HCT-116	colon:	n/a	chr1:95392705-95392715 chr1:95392831-95392841 chr1:95392768-95392778 chr1:95393042-95393052
50	POLR2A	chr1:95390628-95393264	H1-neurons	neurons:	n/a	n/a

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

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11809155	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101940	0.84[EUR][1000 genomes]
rs74101946	0.84[EUR][1000 genomes]
rs74101955	0.84[EUR][1000 genomes]
rs9432408	0.84[EUR][1000 genomes]
rs9432412	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9432615	0.87[EUR][1000 genomes]
rs9432616	0.87[EUR][1000 genomes]

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:124 , 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	chr1:95389600-95393400	Active TSS	Brain Anterior Caudate	brain
4	chr1:95389600-95393600	Active TSS	Brain Substantia Nigra	brain
5	chr1:95389600-95393600	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr1:95389600-95395000	Active TSS	Ovary	ovary
7	chr1:95389600-95395000	Active TSS	Right Atrium	heart
8	chr1:95389800-95393000	Active TSS	NH-A	brain
9	chr1:95389800-95393600	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr1:95389800-95393600	Active TSS	NHLF	lung
11	chr1:95389800-95395200	Active TSS	HSMMtube	muscle
12	chr1:95390000-95392200	Active TSS	Colonic Mucosa	Colon
13	chr1:95390000-95393200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:95390000-95393200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:95390000-95393200	Active TSS	Muscle Satellite Cultured Cells	--
16	chr1:95390000-95393200	Active TSS	NHDF-Ad	bronchial
17	chr1:95390000-95393400	Active TSS	HMEC	breast
18	chr1:95390000-95393600	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr1:95390000-95393600	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr1:95390000-95393600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:95390000-95393800	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr1:95390000-95393800	Active TSS	Right Ventricle	heart
23	chr1:95390000-95394000	Active TSS	Sigmoid Colon	Sigmoid Colon
24	chr1:95390000-95394200	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr1:95390000-95394200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:95390000-95394600	Active TSS	Lung	lung
27	chr1:95390200-95393000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:95390200-95393600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:95390200-95393600	Active TSS	Esophagus	oesophagus
30	chr1:95390200-95393600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
31	chr1:95390200-95393600	Active TSS	Left Ventricle	heart
32	chr1:95390200-95395400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:95390400-95393200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr1:95390400-95393200	Active TSS	Fetal Muscle Leg	muscle
35	chr1:95390400-95393200	Active TSS	Fetal Stomach	stomach
36	chr1:95390400-95393200	Active TSS	Placenta Amnion	Placenta Amnion
37	chr1:95390400-95393600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:95390400-95393600	Active TSS	Fetal Muscle Trunk	muscle
39	chr1:95390400-95393800	Active TSS	Duodenum Mucosa	Duodenum
40	chr1:95390400-95394400	Active TSS	H1 Cell Line	embryonic stem cell
41	chr1:95390400-95394400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:95390600-95392200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:95390600-95393000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
44	chr1:95390600-95393000	Bivalent/Poised TSS	Thymus	Thymus
45	chr1:95390600-95393200	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr1:95390600-95393200	Active TSS	Pancreas	Pancrea
47	chr1:95390600-95393600	Active TSS	H9 Cell Line	embryonic stem cell
48	chr1:95390600-95393600	Active TSS	Small Intestine	intestine
49	chr1:95390600-95393800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr1:95390600-95393800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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