Variant report

Variant	rs492515
Chromosome Location	chr1:45452560-45452561
allele	C/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	chr1:45452049-45452599	GM12878	blood:	n/a	chr1:45452412-45452424 chr1:45452413-45452423 chr1:45452413-45452422 chr1:45452414-45452423 chr1:45452414-45452423 chr1:45452413-45452423 chr1:45452412-45452424 chr1:45452409-45452423
2	POLR2A	chr1:45451915-45452712	PFSK-1	brain:	n/a	n/a
3	GTF2F1	chr1:45452142-45452587	Hela-S3	cervix:	n/a	n/a
4	REST	chr1:45452089-45452620	SK-N-SH	brain:	n/a	n/a
5	NRF1	chr1:45452090-45452693	SK-N-SH	brain:	n/a	chr1:45452283-45452297 chr1:45452282-45452293 chr1:45452283-45452294 chr1:45452413-45452422
6	SIN3AK20	chr1:45451267-45452684	K562	blood:	n/a	n/a
7	E2F6	chr1:45451928-45453221	K562	blood:	n/a	chr1:45452284-45452293 chr1:45452392-45452403 chr1:45452413-45452422
8	MTA3	chr1:45451548-45452625	GM12878	blood:	n/a	n/a
9	POLR2A	chr1:45451964-45452692	Hela-S3	cervix:	n/a	n/a
10	E2F4	chr1:45452101-45452653	MCF10A-Er-Src	breast:	n/a	chr1:45452284-45452293 chr1:45452413-45452422
11	YY1	chr1:45451936-45452578	GM12892	blood:	n/a	chr1:45452410-45452424 chr1:45452413-45452422
12	SP4	chr1:45452000-45452610	H1-hESC	embryonic stem cell:	n/a	chr1:45452408-45452424 chr1:45452410-45452426
13	POLR2A	chr1:45451886-45452633	U87	brain:	n/a	n/a
14	PML	chr1:45451761-45452627	GM12878	blood:	n/a	n/a
15	USF1	chr1:45452198-45452609	H1-hESC	embryonic stem cell:	n/a	n/a
16	E2F4	chr1:45452074-45452593	K562	blood:	n/a	chr1:45452284-45452293 chr1:45452413-45452422
17	FOXM1	chr1:45451984-45452648	GM12878	blood:	n/a	n/a
18	NRF1	chr1:45452095-45452645	GM12878	blood:	n/a	chr1:45452283-45452297 chr1:45452282-45452293 chr1:45452283-45452294 chr1:45452413-45452422
19	REST	chr1:45452035-45452600	HepG2	liver:	n/a	n/a
20	MYC	chr1:45452058-45452615	HUVEC	blood vessel:	n/a	chr1:45452411-45452421
21	YY1	chr1:45452016-45452744	H1-hESC	embryonic stem cell:	n/a	chr1:45452410-45452424 chr1:45452413-45452422
22	MAX	chr1:45451873-45452813	A549	lung:	n/a	chr1:45452411-45452421
23	ETS1	chr1:45451985-45452561	A549	lung:	n/a	chr1:45452411-45452422
24	MAX	chr1:45452013-45452629	Hela-S3	cervix:	n/a	chr1:45452411-45452421
25	RCOR1	chr1:45451463-45452665	K562	blood:	n/a	n/a
26	TEAD4	chr1:45452059-45452571	H1-hESC	embryonic stem cell:	n/a	n/a
27	ZNF143	chr1:45452111-45452627	Hela-S3	cervix:	n/a	n/a
28	MAX	chr1:45451869-45452749	MCF-7	breast:	n/a	chr1:45452411-45452421
29	ZNF263	chr1:45451358-45452615	HEK293-T-REx	kidney:	n/a	chr1:45452358-45452379 chr1:45451623-45451632
30	BCLAF1	chr1:45451981-45452606	GM12878	blood:	n/a	n/a
31	POLR2A	chr1:45451968-45452743	K562	blood:	n/a	n/a
32	IRF1	chr1:45452114-45452671	K562	blood:	n/a	chr1:45452412-45452426
33	MAX	chr1:45451928-45452712	K562	blood:	n/a	chr1:45452411-45452421
34	ATF2	chr1:45452105-45452622	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr1:45451876-45452733	HUVEC	blood vessel:	n/a	n/a
36	SETDB1	chr1:45452071-45452618	U2OS	brain:	n/a	chr1:45452284-45452293
37	MAX	chr1:45452015-45452616	GM12878	blood:	n/a	chr1:45452411-45452421
38	MXI1	chr1:45451962-45452562	Hela-S3	cervix:	n/a	n/a
39	USF1	chr1:45452182-45452573	A549	lung:	n/a	n/a
40	E2F6	chr1:45452070-45452686	K562	blood:	n/a	chr1:45452284-45452293 chr1:45452392-45452403 chr1:45452413-45452422
41	POLR2A	chr1:45452007-45452637	SK-N-SH	brain:	n/a	n/a
42	POU2F2	chr1:45451910-45452625	GM12878	blood:	n/a	chr1:45452410-45452422
43	POLR2A	chr1:45451981-45452687	K562	blood:	n/a	n/a
44	PBX3	chr1:45451973-45452642	SK-N-SH	brain:	n/a	n/a
45	YY1	chr1:45452096-45452649	SK-N-SH	brain:	n/a	chr1:45452410-45452424 chr1:45452413-45452422
46	RELA	chr1:45452004-45452603	GM18951	blood:	n/a	n/a
47	USF2	chr1:45452134-45452613	GM12878	blood:	n/a	n/a
48	ZEB1	chr1:45452014-45452560	GM12878	blood:	n/a	n/a
49	NR2C2	chr1:45452053-45452646	Hela-S3	cervix:	n/a	n/a
50	YY1	chr1:45452030-45452890	K562	blood:	n/a	chr1:45452410-45452424 chr1:45452413-45452422

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:45452521-45452571	SK-N-SH_RA	brain:	n/a
2	chr1:45452521-45452571	HCF	heart:	n/a
3	chr1:45452521-45452571	T-47D	breast:	n/a
4	chr1:45452521-45452571	PFSK-1	brain:	n/a
5	chr1:45452521-45452571	Hela-S3	cervix:	n/a
6	chr1:45452521-45452571	HL-60	blood:	n/a
7	chr1:45452521-45452571	AG10803	skin:	n/a
8	chr1:45452521-45452571	Hepatocyte	liver:	n/a
9	chr1:45452521-45452571	HRCEpiC	kidney:	n/a
10	chr1:45452521-45452571	K562	blood:	n/a
11	chr1:45452521-45452571	HNPCEpiC	eye:	n/a
12	chr1:45452521-45452571	HUVEC	blood vessel:	n/a
13	chr1:45452521-45452571	PrEC	prostate:	n/a
14	chr1:45452521-45452571	HCPEpiC	choroid plexus:	n/a
15	chr1:45452521-45452571	HIPEpiC	eye:	n/a
16	chr1:45452521-45452571	GM12892	blood:	n/a
17	chr1:45452521-45452571	GM19239	blood:	n/a
18	chr1:45452521-45452571	AG09319	gingival:	n/a
19	chr1:45452521-45452571	BJ	skin:	n/a
20	chr1:45452521-45452571	ECC-1	luminal epithelium:	n/a
21	chr1:45452521-45452571	Jurkat	blood:	n/a
22	chr1:45452521-45452571	SK-N-MC	brain:	n/a
23	chr1:45452521-45452571	NH-A	brain:	n/a
24	chr1:45452521-45452571	H1-hESC	embryonic stem cell:	embryo
25	chr1:45452521-45452571	AG04449	skin:	fetal
26	chr1:45452521-45452571	ProgFib	skin:	n/a
27	chr1:45452521-45452571	RPTEC	kidney:	n/a
28	chr1:45452521-45452571	MCF10A-Er-Src	breast:	n/a
29	chr1:45452521-45452571	Caco-2	colon:	n/a
30	chr1:45452521-45452571	AG04450	lung:	fetal
31	chr1:45452521-45452571	HCT-116	colon:	n/a
32	chr1:45452521-45452571	HEK293	kidney:	embryo
33	chr1:45452521-45452571	LNCaP	prostate:	n/a
34	chr1:45452521-45452571	CMK	blood:	n/a
35	chr1:45452521-45452571	AG09309	skin:	n/a
36	chr1:45452521-45452571	HCM	heart:	n/a
37	chr1:45452521-45452571	IMR90	lung:	fetal
38	chr1:45452521-45452571	HepG2	liver:	n/a
39	chr1:45452521-45452571	U87	brain:	n/a
40	chr1:45452521-45452571	PANC-1	pancreas:	n/a
41	chr1:45452521-45452571	AoSMC	blood vessel:	n/a
42	chr1:45452521-45452571	HEEpiC	esophagus:	n/a
43	chr1:45452521-45452571	BE2_C	brain:	n/a
44	chr1:45452521-45452571	SKMC	muscle:	n/a
45	chr1:45452521-45452571	GM12878	blood:	n/a
46	chr1:45452521-45452571	HPAEpiC	pulmonary alveolar:	n/a
47	chr1:45452521-45452571	ovcar-3	ovarian:	n/a
48	chr1:45452521-45452571	NHDF-neo	bronchial:	n/a
49	chr1:45452521-45452571	MCF-7	breast:	n/a
50	chr1:45452521-45452571	HRPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:45452263..45453960-chr1:45454277..45456496,2	K562	blood:
2	chr1:45451325..45453836-chr1:45473269..45474967,2	MCF-7	breast:
3	chr1:45451300..45453679-chr1:45476530..45479236,3	MCF-7	breast:
4	chr1:45284581..45287931-chr1:45452240..45453906,3	MCF-7	breast:
5	chr1:45186235..45188904-chr1:45452213..45453975,2	K562	blood:
6	chr1:45194988..45198272-chr1:45451491..45453905,3	K562	blood:
7	chr1:45450854..45457330-chr1:45465047..45472849,14	K562	blood:
8	chr1:45452472..45454113-chr1:45457671..45459951,2	K562	blood:
9	chr1:45452234..45453881-chr1:45454230..45457935,4	K562	blood:
10	chr1:45449901..45454181-chr1:45475970..45480540,16	K562	blood:
11	chr1:45283976..45287622-chr1:45450715..45458034,11	K562	blood:
12	chr1:45240606..45242978-chr1:45452437..45454075,2	K562	blood:
13	chr1:45284059..45286396-chr1:45450000..45452623,4	MCF-7	breast:
14	chr1:45282917..45288387-chr1:45449365..45456835,12	K562	blood:
15	chr1:45273964..45275771-chr1:45451640..45453619,2	K562	blood:
16	chr1:45450947..45453129-chr1:45770139..45772507,2	K562	blood:
17	chr1:45271433..45273539-chr1:45450490..45453055,2	K562	blood:

Variant related genes	Relation type
EIF2B3	TF binding region
EIF2B3	CpG island
ENSG00000162415	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000126088	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000268949	Chromatin interaction
ENSG00000200169	Chromatin interaction
ENSG00000200913	Chromatin interaction
ENSG00000225721	Chromatin interaction
ENSG00000126107	Chromatin interaction
ENSG00000188396	Chromatin interaction
ENSG00000232369	Chromatin interaction
ENSG00000222009	Chromatin interaction
ENSG00000264294	Chromatin interaction
ENSG00000142937	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1007005	1.00[AMR][1000 genomes]
rs12407290	1.00[YRI][hapmap]
rs1561794	1.00[AMR][1000 genomes]
rs174638	1.00[AMR][1000 genomes]
rs174639	1.00[AMR][1000 genomes]
rs1892476	1.00[AMR][1000 genomes]
rs2211646	1.00[AMR][1000 genomes]
rs2265603	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2476170	1.00[AFR][1000 genomes]
rs263984	1.00[YRI][hapmap]
rs263993	1.00[AFR][1000 genomes]
rs263995	1.00[AFR][1000 genomes]
rs264000	1.00[AFR][1000 genomes]
rs264001	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs264003	1.00[AFR][1000 genomes]
rs264012	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs264016	1.00[AMR][1000 genomes]
rs264017	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs264018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2883814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35710243	1.00[AMR][1000 genomes]
rs3923304	1.00[YRI][hapmap]
rs410800	0.89[AFR][1000 genomes]
rs411976	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs418302	1.00[AMR][1000 genomes]
rs425780	1.00[AMR][1000 genomes]
rs428928	1.00[AFR][1000 genomes]
rs449870	1.00[AFR][1000 genomes]
rs4660829	1.00[AMR][1000 genomes]
rs474207	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs506691	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs536499	1.00[AFR][1000 genomes]
rs57755658	1.00[AMR][1000 genomes]
rs577647	1.00[AFR][1000 genomes]
rs58600794	1.00[AMR][1000 genomes]
rs58829168	1.00[AMR][1000 genomes]
rs59682873	1.00[AMR][1000 genomes]
rs60123910	1.00[AMR][1000 genomes]
rs61542654	1.00[AMR][1000 genomes]
rs638062	1.00[AFR][1000 genomes]
rs6666857	1.00[AMR][1000 genomes]
rs9429139	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
5	esv2830314	chr1:45430218-45455285	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv945915	chr1:45452240-45455734	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45451000-45452800	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr1:45451000-45452800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:45451000-45452800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:45451000-45452800	Active TSS	HSMMtube	muscle
5	chr1:45451000-45453200	Active TSS	A549	lung
6	chr1:45451200-45452600	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr1:45451200-45452600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr1:45451200-45452800	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr1:45451200-45452800	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr1:45451200-45452800	Active TSS	NHDF-Ad	bronchial
11	chr1:45451400-45452600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr1:45451400-45452600	Active TSS	Aorta	Aorta
13	chr1:45451400-45452800	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr1:45451400-45452800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:45451400-45452800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:45451400-45452800	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr1:45451400-45452800	Active TSS	NHLF	lung
18	chr1:45451600-45452600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:45451600-45452600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:45451600-45452600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:45451600-45452600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:45451600-45452600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:45451600-45452600	Active TSS	Colon Smooth Muscle	Colon
24	chr1:45451600-45452600	Active TSS	Gastric	stomach
25	chr1:45451600-45452600	Active TSS	Lung	lung
26	chr1:45451600-45452600	Active TSS	Sigmoid Colon	Sigmoid Colon
27	chr1:45451600-45452600	Active TSS	Spleen	Spleen
28	chr1:45451600-45452800	Active TSS	H1 Cell Line	embryonic stem cell
29	chr1:45451600-45452800	Active TSS	H9 Cell Line	embryonic stem cell
30	chr1:45451600-45452800	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr1:45451600-45452800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:45451600-45452800	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr1:45451600-45452800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:45451600-45452800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:45451600-45452800	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr1:45451600-45452800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:45451600-45452800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:45451600-45452800	Active TSS	Brain Anterior Caudate	brain
39	chr1:45451600-45452800	Active TSS	Brain Cingulate Gyrus	brain
40	chr1:45451600-45452800	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr1:45451600-45452800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr1:45451600-45452800	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr1:45451600-45452800	Active TSS	Fetal Intestine Large	intestine
44	chr1:45451600-45452800	Active TSS	Left Ventricle	heart
45	chr1:45451600-45452800	Active TSS	Pancreas	Pancrea
46	chr1:45451600-45452800	Active TSS	Psoas Muscle	Psoas
47	chr1:45451600-45452800	Active TSS	Right Ventricle	heart
48	chr1:45451600-45452800	Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr1:45451600-45452800	Active TSS	Thymus	Thymus
50	chr1:45451600-45452800	Active TSS	HMEC	breast

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