Variant report

Variant	rs3733476
Chromosome Location	chr4:174256500-174256501
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	RCOR1	chr4:174254912-174256867	K562	blood:	n/a	n/a
2	SIN3AK20	chr4:174256278-174256702	HepG2	liver:	n/a	n/a
3	ZNF263	chr4:174254596-174256659	K562	blood:	n/a	chr4:174256342-174256351 chr4:174254943-174254952
4	POLR2A	chr4:174256399-174256627	A549	lung:	n/a	n/a
5	ZNF143	chr4:174255377-174256834	H1-hESC	embryonic stem cell:	n/a	chr4:174256198-174256217 chr4:174256058-174256076 chr4:174256053-174256072 chr4:174256065-174256074
6	HCFC1	chr4:174254267-174256847	K562	blood:	n/a	n/a
7	POLR2A	chr4:174254490-174256695	GM12878	blood:	n/a	n/a
8	SP1	chr4:174254980-174256783	HCT-116	colon:	n/a	chr4:174255637-174255646 chr4:174256412-174256424 chr4:174256441-174256451 chr4:174255636-174255648 chr4:174256441-174256450 chr4:174255636-174255648 chr4:174255637-174255646 chr4:174255638-174255647 chr4:174256440-174256452 chr4:174255637-174255651 chr4:174256440-174256452 chr4:174256441-174256451 chr4:174255856-174255866 chr4:174256441-174256455 chr4:174255778-174255799 chr4:174256441-174256450 chr4:174256442-174256451 chr4:174255856-174255866 chr4:174256412-174256424
9	TBL1XR1	chr4:174255242-174256606	GM12878	blood:	n/a	n/a
10	PML	chr4:174254962-174256891	K562	blood:	n/a	n/a
11	POLR2A	chr4:174253079-174256879	GM12878	blood:	n/a	n/a
12	MAZ	chr4:174254585-174256866	Hela-S3	cervix:	n/a	chr4:174256491-174256500 chr4:174254939-174254949 chr4:174256443-174256453
13	EGR1	chr4:174256245-174256621	K562	blood:	n/a	chr4:174256442-174256457 chr4:174256443-174256456 chr4:174256414-174256427 chr4:174256419-174256429 chr4:174256443-174256456 chr4:174256444-174256454 chr4:174256441-174256451
14	TAF1	chr4:174255098-174256507	GM12878	blood:	n/a	n/a
15	POLR2A	chr4:174254162-174256765	ECC-1	luminal epithelium:	n/a	n/a
16	HMGN3	chr4:174254651-174256844	K562	blood:	n/a	n/a
17	TAL1	chr4:174253476-174257034	K562	blood:	n/a	n/a
18	CEBPD	chr4:174255220-174256805	K562	blood:	n/a	n/a
19	RELA	chr4:174255334-174256776	GM19193	blood:	n/a	chr4:174255878-174255887 chr4:174255878-174255887
20	MAX	chr4:174255171-174256906	MCF-7	breast:	n/a	chr4:174256491-174256500 chr4:174256443-174256453
21	RELA	chr4:174255144-174256857	GM15510	blood:	n/a	chr4:174255878-174255887 chr4:174255878-174255887
22	YY1	chr4:174255235-174256521	H1-hESC	embryonic stem cell:	n/a	chr4:174256422-174256436 chr4:174255939-174255953 chr4:174255815-174255825 chr4:174255815-174255825 chr4:174256442-174256451 chr4:174256416-174256425 chr4:174256440-174256454 chr4:174255638-174255647 chr4:174255810-174255826
23	RFX5	chr4:174256191-174256637	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr4:174254780-174256717	HUVEC	blood vessel:	n/a	n/a
25	TCF7L2	chr4:174255361-174256644	HCT-116	colon:	n/a	n/a
26	BCLAF1	chr4:174255033-174256512	GM12878	blood:	n/a	chr4:174255638-174255651 chr4:174255079-174255092 chr4:174255794-174255807 chr4:174256065-174256073 chr4:174256322-174256331 chr4:174256414-174256423
27	MYC	chr4:174254719-174256821	NB4	blood:	n/a	chr4:174256491-174256500 chr4:174254939-174254949 chr4:174256443-174256453
28	NFIC	chr4:174255240-174256777	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr4:174254985-174256882	SK-N-SH	brain:	n/a	n/a
30	MAX	chr4:174254782-174256878	H1-hESC	embryonic stem cell:	n/a	chr4:174256491-174256500 chr4:174254939-174254949 chr4:174256443-174256453
31	MTA3	chr4:174254954-174257023	GM12878	blood:	n/a	n/a
32	HDAC2	chr4:174256196-174256674	HepG2	liver:	n/a	n/a
33	POLR2A	chr4:174252562-174257085	H1-hESC	embryonic stem cell:	n/a	n/a
34	ZBTB7A	chr4:174255617-174256619	K562	blood:	n/a	chr4:174256412-174256419
35	HEY1	chr4:174254916-174256839	K562	blood:	n/a	n/a
36	EP300	chr4:174255050-174256821	ECC-1	luminal epithelium:	n/a	chr4:174255944-174255953 chr4:174256038-174256054 chr4:174255082-174255091 chr4:174256519-174256535 chr4:174256505-174256521
37	SIN3AK20	chr4:174254808-174256706	PANC-1	pancreas:	n/a	n/a
38	SP1	chr4:174255166-174256816	A549	lung:	n/a	chr4:174255637-174255646 chr4:174256412-174256424 chr4:174256441-174256451 chr4:174255636-174255648 chr4:174256441-174256450 chr4:174255636-174255648 chr4:174255637-174255646 chr4:174255638-174255647 chr4:174256440-174256452 chr4:174255637-174255651 chr4:174256440-174256452 chr4:174256441-174256451 chr4:174255856-174255866 chr4:174256441-174256455 chr4:174255778-174255799 chr4:174256441-174256450 chr4:174256442-174256451 chr4:174255856-174255866 chr4:174256412-174256424
39	STAT3	chr4:174256304-174256612	MCF10A-Er-Src	breast:	n/a	n/a
40	MYC	chr4:174255253-174256742	K562	blood:	n/a	chr4:174256491-174256500 chr4:174256443-174256453
41	SIN3AK20	chr4:174256180-174256902	K562	blood:	n/a	n/a
42	POLR2A	chr4:174254512-174256999	PFSK-1	brain:	n/a	n/a
43	ARID3A	chr4:174256484-174256801	K562	blood:	n/a	n/a
44	ZNF263	chr4:174253957-174256828	HEK293-T-REx	kidney:	n/a	chr4:174256342-174256351 chr4:174254943-174254952
45	POLR2A	chr4:174254450-174256867	HCT-116	colon:	n/a	n/a
46	MAX	chr4:174255099-174256630	HepG2	liver:	n/a	chr4:174256491-174256500 chr4:174256443-174256453
47	RCOR1	chr4:174255375-174256693	Hela-S3	cervix:	n/a	n/a
48	MAFK	chr4:174256200-174256926	K562	blood:	n/a	n/a
49	TRIM28	chr4:174254951-174257024	K562	blood:	n/a	n/a
50	POLR2A	chr4:174255768-174256722	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:174235911..174241843-chr4:174252129..174256843,8	MCF-7	breast:
2	chr4:174088355..174091772-chr4:174254077..174258410,8	K562	blood:
3	chr4:174252933..174259053-chr4:174284716..174299463,25	MCF-7	breast:
4	chr12:56435584..56436188-chr4:174256094..174256905,2	Hela-S3	cervix:
5	chr4:174088713..174091772-chr4:174254390..174258410,4	K562	blood:
6	chr12:120104659..120106467-chr4:174254824..174256542,2	MCF-7	breast:
7	chr4:174250771..174257645-chr4:174286907..174294441,15	MCF-7	breast:
8	chr4:174245727..174260507-chr4:174283013..174295498,65	K562	blood:
9	chr4:174255732..174257392-chr4:174326183..174328039,2	MCF-7	breast:
10	chr4:174248778..174262653-chr4:174278408..174298501,82	K562	blood:
11	chr4:174256106..174257002-chrX:47092521..47093108,2	Hela-S3	cervix:
12	chr16:777045..777546-chr4:174255912..174256629,2	Hela-S3	cervix:

Variant related genes	Relation type
HMGB2	TF binding region
ENSG00000272870	Chromatin interaction
ENSG00000102226	Chromatin interaction
ENSG00000164105	Chromatin interaction
ENSG00000109586	Chromatin interaction
ENSG00000111725	Chromatin interaction
ENSG00000257449	Chromatin interaction
ENSG00000197728	Chromatin interaction
ENSG00000164106	Chromatin interaction
ENSG00000248636	Chromatin interaction
ENSG00000103253	Chromatin interaction
ENSG00000245213	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11132982	0.87[ASN][1000 genomes]
rs11722602	0.86[EUR][1000 genomes]
rs11722807	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11724459	1.00[EUR][1000 genomes]
rs11726679	0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs11728029	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11729778	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11731057	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11731262	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11734517	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11736050	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1481120	0.97[ASN][1000 genomes]
rs34885736	1.00[EUR][1000 genomes]
rs3775590	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3775591	0.84[ASN][1000 genomes]
rs4695829	0.83[ASN][1000 genomes]
rs56159092	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58185783	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58612091	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61470087	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6821844	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6842693	0.86[ASN][1000 genomes]
rs6853427	0.88[ASN][1000 genomes]
rs72999543	0.85[ASN][1000 genomes]
rs73001510	0.80[ASN][1000 genomes]
rs73001512	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73003342	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73003349	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73003362	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73003376	0.97[ASN][1000 genomes]
rs73005346	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73005353	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73005356	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73005357	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73005363	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7664847	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7665469	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7668435	0.84[ASN][1000 genomes]
rs7672055	0.87[ASN][1000 genomes]
rs7686909	0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv966552	chr4:174248506-174259305	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:174253000-174257000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:174253000-174257200	Active TSS	Fetal Brain Female	brain
3	chr4:174253200-174256800	Active TSS	Aorta	Aorta
4	chr4:174253200-174257000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:174253400-174256600	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr4:174253400-174256800	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr4:174253400-174257400	Active TSS	NHLF	lung
8	chr4:174253600-174256600	Active TSS	Colonic Mucosa	Colon
9	chr4:174253600-174256800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr4:174253600-174257000	Active TSS	Fetal Muscle Trunk	muscle
11	chr4:174253800-174257000	Active TSS	Placenta Amnion	Placenta Amnion
12	chr4:174253800-174257000	Active TSS	Right Ventricle	heart
13	chr4:174253800-174257400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:174254000-174256800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr4:174254000-174256800	Active TSS	Esophagus	oesophagus
16	chr4:174254000-174256800	Active TSS	Gastric	stomach
17	chr4:174254000-174256800	Active TSS	Left Ventricle	heart
18	chr4:174254000-174256800	Active TSS	Spleen	Spleen
19	chr4:174254000-174257000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:174254200-174256600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:174254200-174256600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:174254200-174256800	Active TSS	Fetal Kidney	kidney
23	chr4:174254200-174256800	Active TSS	Ovary	ovary
24	chr4:174254200-174256800	Active TSS	Sigmoid Colon	Sigmoid Colon
25	chr4:174254200-174257000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr4:174254200-174257000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr4:174254200-174257000	Active TSS	Fetal Intestine Small	intestine
28	chr4:174254200-174257000	Active TSS	Stomach Smooth Muscle	stomach
29	chr4:174254200-174257200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr4:174254400-174256600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr4:174254400-174256600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr4:174254400-174256600	Active TSS	Colon Smooth Muscle	Colon
33	chr4:174254400-174256600	Active TSS	Duodenum Mucosa	Duodenum
34	chr4:174254400-174256600	Active TSS	Pancreas	Pancrea
35	chr4:174254400-174256600	Active TSS	Small Intestine	intestine
36	chr4:174254400-174256600	Active TSS	Stomach Mucosa	stomach
37	chr4:174254400-174256600	Active TSS	HSMMtube	muscle
38	chr4:174254400-174256600	Active TSS	HUVEC	blood vessel
39	chr4:174254400-174256600	Active TSS	NHEK	skin
40	chr4:174254400-174256600	Active TSS	Osteobl	bone
41	chr4:174254400-174256800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr4:174254400-174256800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr4:174254400-174256800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr4:174254400-174256800	Active TSS	Fetal Heart	heart
45	chr4:174254400-174256800	Active TSS	Lung	lung
46	chr4:174254400-174256800	Active TSS	Hela-S3	cervix
47	chr4:174254400-174256800	Active TSS	NHDF-Ad	bronchial
48	chr4:174254400-174257000	Active TSS	H9 Cell Line	embryonic stem cell
49	chr4:174254400-174257000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr4:174254400-174257000	Active TSS	iPS-15b Cell Line	embryonic stem cell

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