Variant report

Variant	rs377751585
Chromosome Location	chr4:79860405-79860406
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	BHLHE40	chr4:79860381-79861177	GM12878	blood:	n/a	chr4:79860385-79860401 chr4:79860450-79860466 chr4:79860679-79860695
2	ZNF384	chr4:79860399-79860774	K562	blood:	n/a	n/a
3	TCF3	chr4:79860374-79860725	GM12878	blood:	n/a	n/a
4	TAF1	chr4:79860349-79860728	Hela-S3	cervix:	n/a	n/a
5	E2F4	chr4:79860179-79860856	K562	blood:	n/a	chr4:79860452-79860462 chr4:79860723-79860730 chr4:79860590-79860599 chr4:79860387-79860397 chr4:79860727-79860737
6	JUND	chr4:79860212-79860885	K562	blood:	n/a	chr4:79860424-79860433
7	TAF7	chr4:79860166-79860760	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr4:79860286-79861019	HL-60	blood:	n/a	n/a
9	MAX	chr4:79860127-79861173	SK-N-SH	brain:	n/a	chr4:79861006-79861016
10	MXI1	chr4:79860261-79861039	GM12878	blood:	n/a	n/a
11	GTF2F1	chr4:79860346-79860673	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr4:79860104-79860926	ProgFib	skin:	n/a	n/a
13	YY1	chr4:79860335-79860741	GM12891	blood:	n/a	chr4:79860498-79860509 chr4:79860386-79860395 chr4:79860549-79860563 chr4:79860684-79860698 chr4:79860457-79860468 chr4:79860687-79860701 chr4:79860457-79860466 chr4:79860383-79860394 chr4:79860472-79860486 chr4:79860449-79860463 chr4:79860684-79860693
14	RAD21	chr4:79860277-79861105	IMR90	lung:	n/a	chr4:79860502-79860516 chr4:79860414-79860423
15	POLR2A	chr4:79859993-79861069	SK-N-MC	brain:	n/a	n/a
16	MXI1	chr4:79860018-79861422	IMR90	lung:	n/a	n/a
17	ZBTB7A	chr4:79860233-79860759	K562	blood:	n/a	n/a
18	UBTF	chr4:79860168-79861010	K562	blood:	n/a	n/a
19	POLR2A	chr4:79860305-79860665	GM12892	blood:	n/a	n/a
20	ZBTB7A	chr4:79860257-79860800	K562	blood:	n/a	n/a
21	POLR2A	chr4:79860258-79861103	K562	blood:	n/a	n/a
22	MAX	chr4:79860076-79861252	A549	lung:	n/a	chr4:79861006-79861016
23	HEY1	chr4:79860263-79860905	K562	blood:	n/a	chr4:79860590-79860599 chr4:79860547-79860562
24	CTCF	chr4:79860372-79860801	K562	blood:	n/a	n/a
25	ELF1	chr4:79860332-79860816	GM12878	blood:	n/a	chr4:79860467-79860479 chr4:79860520-79860532 chr4:79860385-79860397 chr4:79860538-79860550 chr4:79860569-79860578
26	RCOR1	chr4:79860334-79860808	Hela-S3	cervix:	n/a	n/a
27	MAZ	chr4:79860032-79861040	K562	blood:	n/a	n/a
28	MAX	chr4:79860055-79861116	HepG2	liver:	n/a	chr4:79861006-79861016
29	POLR2A	chr4:79860150-79860988	PFSK-1	brain:	n/a	n/a
30	POLR2A	chr4:79860335-79860884	K562	blood:	n/a	n/a
31	MAX	chr4:79860129-79860816	K562	blood:	n/a	n/a
32	MAX	chr4:79860071-79861067	H1-hESC	embryonic stem cell:	n/a	chr4:79861006-79861016
33	HEY1	chr4:79860212-79860811	K562	blood:	n/a	chr4:79860590-79860599 chr4:79860547-79860562
34	SIN3AK20	chr4:79860209-79860806	PANC-1	pancreas:	n/a	n/a
35	REST	chr4:79859397-79860862	H1-neurons	neurons:	n/a	chr4:79860409-79860429 chr4:79860500-79860518 chr4:79860412-79860425 chr4:79860394-79860404 chr4:79860642-79860652 chr4:79860511-79860524 chr4:79860508-79860521 chr4:79860409-79860422
36	MXI1	chr4:79860376-79860873	HepG2	liver:	n/a	n/a
37	TBP	chr4:79860083-79860774	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr4:79860227-79860873	K562	blood:	n/a	n/a
39	CTCF	chr4:79860397-79860916	GM12878	blood:	n/a	n/a
40	POLR2A	chr4:79860184-79861343	MCF10A-Er-Src	breast:	n/a	n/a
41	SP1	chr4:79860364-79860713	GM12878	blood:	n/a	chr4:79860458-79860470 chr4:79860459-79860468 chr4:79860422-79860436 chr4:79860434-79860443 chr4:79860458-79860470 chr4:79860421-79860433 chr4:79860460-79860469 chr4:79860639-79860648
42	MXI1	chr4:79860402-79860822	H1-hESC	embryonic stem cell:	n/a	n/a
43	SMC3	chr4:79860321-79860730	Hela-S3	cervix:	n/a	n/a
44	MAZ	chr4:79860377-79860800	HepG2	liver:	n/a	n/a
45	POLR2A	chr4:79860238-79860882	U87	brain:	n/a	n/a
46	PAX5	chr4:79860401-79860811	GM12878	blood:	n/a	chr4:79860456-79860465
47	POLR2A	chr4:79860234-79860776	GM12878	blood:	n/a	n/a
48	POLR2A	chr4:79860099-79860759	H1-hESC	embryonic stem cell:	n/a	n/a
49	TAF1	chr4:79860138-79860705	H1-neurons	neurons:	n/a	n/a
50	NANOG	chr4:79860290-79860750	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:79860379-79860429	ovcar-3	ovarian:	n/a
2	chr4:79860379-79860429	K562	blood:	n/a
3	chr4:79860379-79860429	HIPEpiC	eye:	n/a
4	chr4:79860379-79860429	HPAEpiC	pulmonary alveolar:	n/a
5	chr4:79860379-79860429	NT2-D1	testis:	n/a
6	chr4:79860379-79860429	Hela-S3	cervix:	n/a
7	chr4:79860379-79860429	IMR90	lung:	fetal
8	chr4:79860379-79860429	GM12891	blood:	n/a
9	chr4:79860379-79860429	SAEC	small airway:	n/a
10	chr4:79860379-79860429	HCT-116	colon:	n/a
11	chr4:79860379-79860429	MCF-7	breast:	n/a
12	chr4:79860379-79860429	Jurkat	blood:	n/a
13	chr4:79860379-79860429	LNCaP	prostate:	n/a
14	chr4:79860379-79860429	Caco-2	colon:	n/a
15	chr4:79860379-79860429	SK-N-SH_RA	brain:	n/a
16	chr4:79860379-79860429	GM19239	blood:	n/a
17	chr4:79860379-79860429	AG04450	lung:	fetal
18	chr4:79860379-79860429	HRCEpiC	kidney:	n/a
19	chr4:79860379-79860429	AG04449	skin:	fetal
20	chr4:79860379-79860429	T-47D	breast:	n/a
21	chr4:79860379-79860429	NB4	blood:	n/a
22	chr4:79860379-79860429	GM06990	blood:	n/a
23	chr4:79860379-79860429	CMK	blood:	n/a
24	chr4:79860379-79860429	ProgFib	skin:	n/a
25	chr4:79860379-79860429	AG10803	skin:	n/a
26	chr4:79860379-79860429	BE2_C	brain:	n/a
27	chr4:79860379-79860429	U87	brain:	n/a
28	chr4:79860379-79860429	BJ	skin:	n/a
29	chr4:79860379-79860429	NH-A	brain:	n/a
30	chr4:79860379-79860429	ECC-1	luminal epithelium:	n/a
31	chr4:79860379-79860429	HRE	kidney:	n/a
32	chr4:79860379-79860429	AoSMC	blood vessel:	n/a
33	chr4:79860379-79860429	A549	lung:	n/a
34	chr4:79860379-79860429	GM12878	blood:	n/a
35	chr4:79860379-79860429	RPTEC	kidney:	n/a
36	chr4:79860379-79860429	HL-60	blood:	n/a
37	chr4:79860379-79860429	Hepatocyte	liver:	n/a
38	chr4:79860379-79860429	HCPEpiC	choroid plexus:	n/a
39	chr4:79860379-79860429	MCF10A-Er-Src	breast:	n/a
40	chr4:79860379-79860429	HEEpiC	esophagus:	n/a
41	chr4:79860379-79860429	HCF	heart:	n/a
42	chr4:79860379-79860429	AG09309	skin:	n/a
43	chr4:79860379-79860429	HNPCEpiC	eye:	n/a
44	chr4:79860379-79860429	SK-N-SH	brain:	n/a
45	chr4:79860379-79860429	AG09319	gingival:	n/a
46	chr4:79860379-79860429	HUVEC	blood vessel:	n/a
47	chr4:79860379-79860429	HMEC	breast:	n/a
48	chr4:79860379-79860429	NHDF-neo	bronchial:	n/a
49	chr4:79860379-79860429	H1-hESC	embryonic stem cell:	embryo
50	chr4:79860379-79860429	HepG2	liver:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:76603369..76604011-chr4:79859804..79860621,2	Hela-S3	cervix:
2	chr4:79471198..79473938-chr4:79857809..79860687,2	MCF-7	breast:

Variant related genes	Relation type
PAQR3	TF binding region
PAQR3	CpG island
ENSG00000140374	Chromatin interaction
ENSG00000138772	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879504	chr4:79759796-79874275	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv829979	chr4:79819168-80019159	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1000907	chr4:79838948-80224764	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	esv3392523	chr4:79859553-79862101	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 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	chr4:79859000-79860800	Active TSS	GM12878-XiMat	blood
2	chr4:79859200-79861000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr4:79859200-79861000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:79859200-79861200	Active TSS	H9 Cell Line	embryonic stem cell
5	chr4:79859200-79861200	Active TSS	NHLF	lung
6	chr4:79859200-79861400	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr4:79859200-79861400	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr4:79859400-79860800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:79859400-79860800	Active TSS	Brain Angular Gyrus	brain
10	chr4:79859400-79860800	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr4:79859400-79861000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr4:79859400-79861000	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr4:79859400-79861000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:79859400-79861000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr4:79859400-79861000	Active TSS	Duodenum Mucosa	Duodenum
16	chr4:79859400-79861200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:79859400-79861200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:79859400-79861200	Active TSS	Brain Substantia Nigra	brain
19	chr4:79859400-79861200	Active TSS	Hela-S3	cervix
20	chr4:79859400-79861400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:79859400-79861400	Active TSS	Fetal Brain Female	brain
22	chr4:79859400-79861400	Active TSS	NHDF-Ad	bronchial
23	chr4:79859400-79861600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:79859400-79861600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr4:79859600-79860800	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr4:79859600-79860800	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr4:79859600-79861000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr4:79859600-79861000	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr4:79859600-79861000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:79859600-79861000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr4:79859600-79861200	Active TSS	H1 Cell Line	embryonic stem cell
32	chr4:79859600-79861200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:79859600-79861200	Active TSS	Aorta	Aorta
34	chr4:79859600-79861200	Active TSS	Colonic Mucosa	Colon
35	chr4:79859600-79861200	Active TSS	Fetal Muscle Trunk	muscle
36	chr4:79859600-79861200	Active TSS	Ovary	ovary
37	chr4:79859600-79861200	Active TSS	Psoas Muscle	Psoas
38	chr4:79859600-79861200	Active TSS	Right Atrium	heart
39	chr4:79859600-79861400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr4:79859600-79861400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:79859600-79861400	Active TSS	Fetal Brain Male	brain
42	chr4:79859600-79861400	Active TSS	Thymus	Thymus
43	chr4:79859800-79860800	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr4:79859800-79860800	Active TSS	Fetal Kidney	kidney
45	chr4:79859800-79861000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:79859800-79861000	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr4:79859800-79861000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr4:79859800-79861000	Active TSS	Primary T cells fromperipheralblood	blood
49	chr4:79859800-79861000	Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr4:79859800-79861000	Active TSS	Duodenum Smooth Muscle	Duodenum

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