Variant report

Variant	rs4150044
Chromosome Location	chr4:78078142-78078143
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	BACH1	chr4:78077565-78078768	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF3	chr4:78078132-78078522	GM12878	blood:	n/a	chr4:78078317-78078337 chr4:78078336-78078345
3	MYBL2	chr4:78077644-78078613	HepG2	liver:	n/a	n/a
4	POLR2A	chr4:78078090-78079697	GM12878	blood:	n/a	n/a
5	POLR2A	chr4:78077565-78078622	HCT-116	colon:	n/a	n/a
6	POLR2A	chr4:78077543-78078637	HCT-116	colon:	n/a	n/a
7	POU2F2	chr4:78077586-78078928	GM12878	blood:	n/a	chr4:78078899-78078911
8	ELK4	chr4:78077984-78078342	Hela-S3	cervix:	n/a	n/a
9	PML	chr4:78078001-78078446	K562	blood:	n/a	n/a
10	YY1	chr4:78078082-78078597	H1-hESC	embryonic stem cell:	n/a	chr4:78078336-78078345
11	FOXM1	chr4:78077639-78078631	GM12878	blood:	n/a	n/a
12	SP4	chr4:78077821-78078641	H1-hESC	embryonic stem cell:	n/a	chr4:78078109-78078120 chr4:78078332-78078348 chr4:78078334-78078350
13	MTA3	chr4:78077956-78078345	GM12878	blood:	n/a	n/a
14	ZNF384	chr4:78078035-78078343	GM12878	blood:	n/a	n/a
15	E2F4	chr4:78077427-78078491	MCF10A-Er-Src	breast:	n/a	chr4:78078336-78078345
16	FOXA1	chr4:78077854-78078499	HepG2	liver:	n/a	n/a
17	CBX3	chr4:78077958-78078401	K562	blood:	n/a	n/a
18	HDAC2	chr4:78077523-78079738	MCF-7	breast:	n/a	n/a
19	ETS1	chr4:78077752-78078534	GM12878	blood:	n/a	chr4:78078300-78078307 chr4:78078299-78078310
20	TBP	chr4:78077552-78078694	H1-hESC	embryonic stem cell:	n/a	n/a
21	NRF1	chr4:78077059-78078526	SK-N-SH	brain:	n/a	chr4:78078336-78078345
22	MBD4	chr4:78077921-78078399	HepG2	liver:	n/a	n/a
23	NRF1	chr4:78077554-78078177	Hela-S3	cervix:	n/a	n/a
24	ELK1	chr4:78077743-78078331	Hela-S3	cervix:	n/a	n/a
25	TBP	chr4:78077662-78078505	GM12878	blood:	n/a	n/a
26	ZNF263	chr4:78077791-78078379	HEK293-T-REx	kidney:	n/a	n/a
27	FOS	chr4:78077741-78078488	MCF10A-Er-Src	breast:	n/a	chr4:78077920-78077929 chr4:78078009-78078018
28	POLR2A	chr4:78077489-78079663	K562	blood:	n/a	n/a
29	ATF3	chr4:78077917-78078309	A549	lung:	n/a	n/a
30	USF1	chr4:78077793-78078632	SK-N-SH	brain:	n/a	chr4:78078329-78078338 chr4:78078328-78078337 chr4:78078328-78078337 chr4:78078327-78078336
31	GATA1	chr4:78077228-78078848	PBDE	blood:	n/a	n/a
32	USF2	chr4:78077835-78078502	HepG2	liver:	n/a	chr4:78078329-78078338 chr4:78078328-78078337 chr4:78078328-78078337 chr4:78078326-78078337 chr4:78078327-78078336
33	RELA	chr4:78077471-78078591	GM19099	blood:	n/a	n/a
34	MAX	chr4:78077819-78078904	HUVEC	blood vessel:	n/a	chr4:78078327-78078338 chr4:78078328-78078337
35	TBL1XR1	chr4:78078053-78078574	GM12878	blood:	n/a	n/a
36	CEBPB	chr4:78077540-78078360	Hela-S3	cervix:	n/a	chr4:78077651-78077664 chr4:78077919-78077927
37	POLR2A	chr4:78077529-78079836	ECC-1	luminal epithelium:	n/a	n/a
38	RFX5	chr4:78076437-78080872	SK-N-SH	brain:	n/a	chr4:78078008-78078017 chr4:78077919-78077928 chr4:78077871-78077886 chr4:78077875-78077884
39	HDAC2	chr4:78077931-78078538	HepG2	liver:	n/a	n/a
40	CREB1	chr4:78077676-78078686	H1-hESC	embryonic stem cell:	n/a	n/a
41	TBP	chr4:78077761-78078494	HepG2	liver:	n/a	n/a
42	GTF2F1	chr4:78077657-78078580	H1-hESC	embryonic stem cell:	n/a	n/a
43	TAF1	chr4:78078097-78078527	K562	blood:	n/a	n/a
44	CTCF	chr4:78078060-78078210	Caco-2	colon:	n/a	n/a
45	YY1	chr4:78078048-78078995	GM12892	blood:	n/a	chr4:78078900-78078909 chr4:78078336-78078345
46	CHD2	chr4:78077605-78079816	GM12878	blood:	n/a	chr4:78079272-78079282 chr4:78079023-78079033 chr4:78078809-78078819
47	EP300	chr4:78077443-78079827	ECC-1	luminal epithelium:	n/a	chr4:78079396-78079405 chr4:78078789-78078805
48	POLR2A	chr4:78077575-78079768	GM12878	blood:	n/a	n/a
49	BHLHE40	chr4:78077695-78080007	GM12878	blood:	n/a	chr4:78078329-78078338 chr4:78078328-78078337 chr4:78078328-78078337 chr4:78078327-78078336
50	TAF1	chr4:78077538-78079699	ECC-1	luminal epithelium:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:78078114-78078164	SKMC	muscle:	n/a
2	chr4:78078114-78078164	HEEpiC	esophagus:	n/a
3	chr4:78078114-78078164	HRPEpiC	eye:	n/a
4	chr4:78078114-78078164	HIPEpiC	eye:	n/a
5	chr4:78078114-78078164	AG10803	skin:	n/a
6	chr4:78078114-78078164	GM06990	blood:	n/a
7	chr4:78078114-78078164	MCF10A-Er-Src	breast:	n/a
8	chr4:78078114-78078164	GM19239	blood:	n/a
9	chr4:78078114-78078164	HUVEC	blood vessel:	n/a
10	chr4:78078114-78078164	Hepatocyte	liver:	n/a
11	chr4:78078114-78078164	IMR90	lung:	fetal
12	chr4:78078114-78078164	HRE	kidney:	n/a
13	chr4:78078114-78078164	SK-N-SH	brain:	n/a
14	chr4:78078114-78078164	HCM	heart:	n/a
15	chr4:78078114-78078164	HCF	heart:	n/a
16	chr4:78078114-78078164	NHDF-neo	bronchial:	n/a
17	chr4:78078114-78078164	HNPCEpiC	eye:	n/a
18	chr4:78078114-78078164	H1-hESC	embryonic stem cell:	embryo
19	chr4:78078114-78078164	T-47D	breast:	n/a
20	chr4:78078114-78078164	Caco-2	colon:	n/a
21	chr4:78078114-78078164	PrEC	prostate:	n/a
22	chr4:78078114-78078164	AG04449	skin:	fetal
23	chr4:78078114-78078164	NB4	blood:	n/a
24	chr4:78078114-78078164	BJ	skin:	n/a
25	chr4:78078114-78078164	HCPEpiC	choroid plexus:	n/a
26	chr4:78078114-78078164	HepG2	liver:	n/a
27	chr4:78078114-78078164	HMEC	breast:	n/a
28	chr4:78078114-78078164	AG09309	skin:	n/a
29	chr4:78078114-78078164	K562	blood:	n/a
30	chr4:78078114-78078164	GM12878	blood:	n/a
31	chr4:78078114-78078164	ProgFib	skin:	n/a
32	chr4:78078114-78078164	Jurkat	blood:	n/a
33	chr4:78078114-78078164	SAEC	small airway:	n/a
34	chr4:78078114-78078164	Hela-S3	cervix:	n/a
35	chr4:78078114-78078164	BE2_C	brain:	n/a
36	chr4:78078114-78078164	GM12891	blood:	n/a
37	chr4:78078114-78078164	A549	lung:	n/a
38	chr4:78078114-78078164	RPTEC	kidney:	n/a
39	chr4:78078114-78078164	PANC-1	pancreas:	n/a
40	chr4:78078114-78078164	GM12892	blood:	n/a
41	chr4:78078114-78078164	MCF-7	breast:	n/a
42	chr4:78078114-78078164	SK-N-SH_RA	brain:	n/a
43	chr4:78078114-78078164	PFSK-1	brain:	n/a
44	chr4:78078114-78078164	ovcar-3	ovarian:	n/a
45	chr4:78078114-78078164	NHBE	bronchial:	n/a
46	chr4:78078114-78078164	HAEpiC	amniotic membrane:	n/a
47	chr4:78078114-78078164	NT2-D1	testis:	n/a
48	chr4:78078114-78078164	ECC-1	luminal epithelium:	n/a
49	chr4:78078114-78078164	HL-60	blood:	n/a
50	chr4:78078114-78078164	AoSMC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:77993925..77999822-chr4:78072652..78081114,32	MCF-7	breast:
2	chr4:77976734..77978589-chr4:78077582..78079671,2	MCF-7	breast:
3	chr4:77995650..77999094-chr4:78076501..78080726,6	K562	blood:
4	chr4:77994107..77999899-chr4:78076204..78082875,32	MCF-7	breast:
5	chr4:77994543..78000148-chr4:78076403..78082799,9	K562	blood:
6	chr4:77996814..77997584-chr4:78077998..78079227,3	HCT-116	colon:

Variant related genes	Relation type
CCNG2	TF binding region
CCNG2	CpG island
ENSG00000118816	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs13108325	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13115931	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs13134753	0.87[ASN][1000 genomes]
rs17397736	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs17397972	1.00[YRI][hapmap];0.89[EUR][1000 genomes]
rs17398028	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs34171188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34623364	0.89[EUR][1000 genomes]
rs34757592	0.89[EUR][1000 genomes]
rs34820788	1.00[ASN][1000 genomes]
rs35974904	0.93[ASN][1000 genomes]
rs36045205	0.89[EUR][1000 genomes]
rs4150031	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[MKK][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4150052	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs4150067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4150084	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[ASN][1000 genomes]
rs4150090	1.00[ASN][1000 genomes]
rs59493111	0.86[ASN][1000 genomes]
rs6816591	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs6822060	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71607401	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71609303	1.00[ASN][1000 genomes]
rs729239	0.86[ASN][1000 genomes]
rs729241	0.86[ASN][1000 genomes]
rs7655142	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7657629	0.86[ASN][1000 genomes]
rs7659891	0.86[ASN][1000 genomes]
rs7674825	1.00[AFR][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	nsv879500	chr4:78045960-78115334	Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 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	chr4:78076600-78079400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr4:78076600-78080400	Active TSS	Fetal Brain Male	brain
3	chr4:78076800-78079800	Active TSS	Fetal Muscle Trunk	muscle
4	chr4:78076800-78080000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr4:78076800-78080200	Active TSS	H9 Cell Line	embryonic stem cell
6	chr4:78076800-78080200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:78076800-78080800	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr4:78077000-78079600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr4:78077000-78080000	Active TSS	H1 Cell Line	embryonic stem cell
10	chr4:78077000-78080000	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr4:78077000-78080000	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr4:78077200-78078400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:78077200-78078600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:78077200-78078600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:78077200-78079600	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr4:78077200-78079600	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr4:78077200-78079600	Active TSS	Fetal Stomach	stomach
18	chr4:78077200-78079800	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr4:78077200-78079800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:78077200-78079800	Active TSS	Brain Angular Gyrus	brain
21	chr4:78077200-78079800	Active TSS	NHLF	lung
22	chr4:78077200-78080000	Active TSS	Ovary	ovary
23	chr4:78077200-78080000	Active TSS	Rectal Smooth Muscle	rectum
24	chr4:78077200-78080200	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr4:78077200-78080200	Active TSS	Aorta	Aorta
26	chr4:78077200-78080400	Active TSS	Stomach Smooth Muscle	stomach
27	chr4:78077200-78080600	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr4:78077200-78080800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr4:78077400-78078600	Active TSS	Brain Germinal Matrix	brain
30	chr4:78077400-78078600	Active TSS	Fetal Lung	lung
31	chr4:78077400-78079400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr4:78077400-78079400	Active TSS	Placenta	Placenta
33	chr4:78077400-78079600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr4:78077400-78079600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:78077400-78079600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:78077400-78079600	Active TSS	Brain Cingulate Gyrus	brain
37	chr4:78077400-78079600	Active TSS	Brain Hippocampus Middle	brain
38	chr4:78077400-78079600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr4:78077400-78079600	Active TSS	A549	lung
40	chr4:78077400-78079600	Active TSS	K562	blood
41	chr4:78077400-78079800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr4:78077400-78080000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr4:78077400-78080000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr4:78077400-78080000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:78077400-78080000	Active TSS	Colonic Mucosa	Colon
46	chr4:78077400-78080000	Active TSS	Duodenum Mucosa	Duodenum
47	chr4:78077400-78080000	Active TSS	Placenta Amnion	Placenta Amnion
48	chr4:78077400-78080000	Active TSS	Right Ventricle	heart
49	chr4:78077400-78080000	Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr4:78077400-78080200	Active TSS	Psoas Muscle	Psoas

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