Variant report

Variant	rs55877323
Chromosome Location	chr4:119758026-119758027
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	MAX	chr4:119757004-119758070	HCT-116	colon:	n/a	n/a
2	MAX	chr4:119756945-119758191	A549	lung:	n/a	chr4:119756968-119756978
3	TCF12	chr4:119757336-119758092	A549	lung:	n/a	n/a
4	MAX	chr4:119757057-119758053	SK-N-SH	brain:	n/a	n/a
5	NRF1	chr4:119756049-119758280	SK-N-SH	brain:	n/a	chr4:119757339-119757348 chr4:119757339-119757350 chr4:119757338-119757349 chr4:119757339-119757353 chr4:119757335-119757344 chr4:119757336-119757350
6	POLR2A	chr4:119756880-119758376	SK-N-MC	brain:	n/a	n/a
7	REST	chr4:119757443-119758047	SK-N-SH	brain:	n/a	chr4:119757815-119757828
8	MAX	chr4:119757016-119758092	A549	lung:	n/a	n/a
9	MAX	chr4:119756687-119758047	HepG2	liver:	n/a	chr4:119756968-119756978 chr4:119756862-119756872
10	POLR2A	chr4:119757039-119758041	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr4:119757043-119758027	K562	blood:	n/a	n/a
12	REST	chr4:119756933-119758033	HL-60	blood:	n/a	chr4:119757108-119757118 chr4:119757815-119757828
13	E2F6	chr4:119756937-119758057	K562	blood:	n/a	chr4:119757294-119757303 chr4:119756964-119756976 chr4:119757191-119757203 chr4:119757319-119757329 chr4:119757340-119757349
14	TBP	chr4:119756852-119758032	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAFK	chr4:119757165-119758080	K562	blood:	n/a	n/a
16	MAX	chr4:119756058-119758135	HCT-116	colon:	n/a	chr4:119756968-119756978 chr4:119756862-119756872
17	ZNF263	chr4:119756119-119758168	HEK293-T-REx	kidney:	n/a	chr4:119756240-119756249 chr4:119757553-119757562
18	CREB1	chr4:119756998-119758075	H1-hESC	embryonic stem cell:	n/a	chr4:119757268-119757281
19	POLR2A	chr4:119754628-119758338	HepG2	liver:	n/a	n/a
20	GATA3	chr4:119758008-119758192	SH-SY5Y	brain:	n/a	n/a
21	WRNIP1	chr4:119757374-119758034	GM12878	blood:	n/a	n/a
22	POLR2A	chr4:119756888-119758030	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr4:119756976-119758112	SK-N-SH	brain:	n/a	n/a
24	PML	chr4:119755978-119758028	GM12878	blood:	n/a	n/a
25	POLR2A	chr4:119755705-119758054	U87	brain:	n/a	n/a
26	POLR2A	chr4:119756026-119758121	HUVEC	blood vessel:	n/a	n/a
27	KAP1	chr4:119756977-119758094	HEK293	kidney:	n/a	n/a
28	POLR2A	chr4:119756125-119758082	HL-60	blood:	n/a	n/a
29	MTA3	chr4:119756046-119758203	GM12878	blood:	n/a	n/a
30	POLR2A	chr4:119756112-119758266	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr4:119756811-119758095	HEK293	kidney:	n/a	n/a
32	ATF2	chr4:119757297-119758036	H1-hESC	embryonic stem cell:	n/a	n/a
33	E2F6	chr4:119757378-119758047	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAZ	chr4:119755891-119758406	IMR90	lung:	n/a	chr4:119756968-119756978 chr4:119756862-119756872
35	POLR2A	chr4:119756009-119758158	GM12878	blood:	n/a	n/a
36	POLR2A	chr4:119756051-119758224	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr4:119756097-119758039	GM19099	blood:	n/a	n/a
38	CUX1	chr4:119757492-119758034	K562	blood:	n/a	n/a
39	CREB1	chr4:119756984-119758026	K562	blood:	n/a	chr4:119757268-119757281
40	GATA2	chr4:119757185-119758251	SH-SY5Y	brain:	n/a	chr4:119757695-119757708
41	MYC	chr4:119757243-119758093	Hela-S3	cervix:	n/a	n/a
42	RCOR1	chr4:119756211-119758030	GM12878	blood:	n/a	n/a
43	KAP1	chr4:119757097-119758095	U2OS	brain:	n/a	n/a
44	MXI1	chr4:119755884-119758441	IMR90	lung:	n/a	n/a
45	CHD2	chr4:119757531-119758062	K562	blood:	n/a	chr4:119757808-119757818
46	MAX	chr4:119756958-119758069	HepG2	liver:	n/a	chr4:119756968-119756978
47	MXI1	chr4:119754908-119758409	SK-N-SH	brain:	n/a	n/a
48	POLR2A	chr4:119756135-119758054	Raji	blood:	n/a	n/a
49	POLR2A	chr4:119755699-119758112	U87	brain:	n/a	n/a
50	POLR2A	chr4:119756753-119758056	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
SEC24D	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs13145450	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17324912	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34371198	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34596379	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34742402	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35454727	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35708799	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35748313	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67882376	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6814969	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6817440	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats 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	39 gene(s)	inside rSNPs	diseases
2	esv3355840	chr4:119296640-119774737	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv516777	chr4:119733366-119762951	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3377040	chr4:119756129-119758677	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv3376985	chr4:119757182-119774736	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119755000-119758200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr4:119755200-119758200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:119755200-119758200	Active TSS	Aorta	Aorta
4	chr4:119755400-119758200	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr4:119755400-119758200	Active TSS	HSMMtube	muscle
6	chr4:119755400-119758400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:119755600-119758400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr4:119755600-119758400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:119755800-119758200	Active TSS	Colonic Mucosa	Colon
10	chr4:119755800-119758200	Active TSS	Fetal Muscle Trunk	muscle
11	chr4:119755800-119758200	Active TSS	Right Atrium	heart
12	chr4:119755800-119758200	Active TSS	Right Ventricle	heart
13	chr4:119756000-119758200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr4:119756000-119758200	Active TSS	H9 Cell Line	embryonic stem cell
15	chr4:119756000-119758200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:119756000-119758200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:119756000-119758200	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr4:119756000-119758200	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr4:119756000-119758200	Active TSS	Fetal Kidney	kidney
20	chr4:119756000-119758400	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr4:119756000-119758400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:119756200-119758200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr4:119756200-119758200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr4:119756200-119758400	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr4:119756400-119758200	Active TSS	Fetal Lung	lung
26	chr4:119756600-119758400	Active TSS	Brain Cingulate Gyrus	brain
27	chr4:119757200-119758600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr4:119757400-119758200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr4:119757400-119758200	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr4:119757600-119758200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr4:119757600-119758200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr4:119757600-119758200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr4:119757600-119758200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr4:119757600-119758200	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr4:119757600-119758200	Flanking Active TSS	Fetal Thymus	thymus
36	chr4:119757600-119758200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr4:119757600-119758200	Flanking Active TSS	Dnd41	blood
38	chr4:119757600-119758200	Flanking Active TSS	HSMM	muscle
39	chr4:119757600-119758200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr4:119757600-119758400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
41	chr4:119757600-119758400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr4:119757600-119758400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr4:119757600-119758400	Flanking Active TSS	Liver	Liver
44	chr4:119757600-119758400	Flanking Active TSS	HUVEC	blood vessel
45	chr4:119757800-119758200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr4:119757800-119758200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr4:119757800-119758200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr4:119757800-119758200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr4:119757800-119758200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr4:119757800-119758200	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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