Variant report

Variant	rs11944875
Chromosome Location	chr4:166299760-166299761
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	MAX	chr4:166299703-166300795	HCT-116	colon:	n/a	chr4:166300110-166300120
2	MAX	chr4:166299734-166300813	HepG2	liver:	n/a	chr4:166300110-166300120
3	BHLHE40	chr4:166299748-166300500	HepG2	liver:	n/a	chr4:166300345-166300361 chr4:166300276-166300292
4	REST	chr4:166299004-166301874	H1-neurons	neurons:	n/a	chr4:166300166-166300179 chr4:166299047-166299055 chr4:166300164-166300182
5	MXI1	chr4:166299094-166301418	SK-N-SH	brain:	n/a	n/a
6	REST	chr4:166299527-166300557	H1-neurons	neurons:	n/a	chr4:166300166-166300179 chr4:166300164-166300182
7	POLR2A	chr4:166299620-166301519	H1-neurons	neurons:	n/a	n/a
8	CTCF	chr4:166299720-166299870	WI-38	lung:	n/a	n/a
9	TAF1	chr4:166299636-166300679	H1-neurons	neurons:	n/a	n/a
10	EP300	chr4:166299661-166300527	ECC-1	luminal epithelium:	n/a	chr4:166299816-166299825 chr4:166300355-166300371 chr4:166300353-166300362 chr4:166300277-166300293 chr4:166300351-166300360
11	MAX	chr4:166299667-166300765	ECC-1	luminal epithelium:	n/a	chr4:166300110-166300120
12	CTCF	chr4:166299660-166299810	NHDF-neo	bronchial:	n/a	n/a
13	TAF1	chr4:166299658-166301299	H1-neurons	neurons:	n/a	n/a
14	CREB1	chr4:166299714-166300419	HepG2	liver:	n/a	n/a
15	CTCF	chr4:166299677-166301321	SK-N-SH	brain:	n/a	chr4:166300937-166300945 chr4:166300277-166300290
16	TEAD4	chr4:166299625-166300431	ECC-1	luminal epithelium:	n/a	n/a
17	JUND	chr4:166299423-166300536	SK-N-SH	brain:	n/a	chr4:166299945-166299956
18	MAX	chr4:166299617-166300816	HCT-116	colon:	n/a	chr4:166300110-166300120
19	POLR2A	chr4:166299602-166301387	H1-neurons	neurons:	n/a	n/a
20	NFIC	chr4:166299720-166300329	ECC-1	luminal epithelium:	n/a	n/a
21	CREB1	chr4:166299701-166300578	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:166298064..166301679-chr4:166306197..166309667,4	MCF-7	breast:
2	chr4:166126423..166128941-chr4:166299614..166301287,2	MCF-7	breast:
3	chr4:166298593..166300612-chr4:166306180..166307966,2	MCF-7	breast:

Variant related genes	Relation type
CPE	TF binding region
ENSG00000109466	Chromatin interaction
ENSG00000207559	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12498302	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12501589	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12502374	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12503472	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12508818	0.83[AMR][1000 genomes]
rs12509710	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12513198	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12642246	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13113058	0.83[EUR][1000 genomes]
rs13123297	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13151882	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1347744	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1370683	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1438112	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17624714	0.85[ASN][1000 genomes]
rs17686668	0.85[ASN][1000 genomes]
rs4621390	0.83[ASN][1000 genomes]
rs4690812	0.83[ASN][1000 genomes]
rs875486	0.86[EUR][1000 genomes]

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166298000-166302400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:166299000-166299800	Flanking Active TSS	Brain Anterior Caudate	brain
3	chr4:166299000-166299800	Flanking Active TSS	Fetal Brain Female	brain
4	chr4:166299000-166300000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:166299200-166299800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr4:166299200-166299800	Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr4:166299200-166300000	Flanking Active TSS	HepG2	liver
8	chr4:166299200-166301000	Active TSS	Colon Smooth Muscle	Colon
9	chr4:166299200-166301400	Active TSS	Rectal Smooth Muscle	rectum
10	chr4:166299200-166303200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:166299400-166299800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:166299400-166299800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:166299400-166299800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
14	chr4:166299400-166299800	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr4:166299400-166299800	Flanking Active TSS	Brain Substantia Nigra	brain
16	chr4:166299400-166299800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
17	chr4:166299400-166300000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:166299400-166300000	Flanking Active TSS	Brain Angular Gyrus	brain
19	chr4:166299400-166300000	Flanking Active TSS	Brain Cingulate Gyrus	brain
20	chr4:166299400-166301000	Active TSS	Brain Germinal Matrix	brain
21	chr4:166299400-166301400	Active TSS	Stomach Smooth Muscle	stomach
22	chr4:166299400-166302200	Active TSS	Aorta	Aorta
23	chr4:166299400-166304000	Active TSS	Brain Hippocampus Middle	brain
24	chr4:166299600-166299800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:166299600-166299800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:166299600-166299800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr4:166299600-166299800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:166299600-166299800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:166299600-166299800	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr4:166299600-166299800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
31	chr4:166299600-166299800	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
32	chr4:166299600-166299800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
33	chr4:166299600-166299800	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr4:166299600-166299800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:166299600-166299800	Enhancers	Liver	Liver
36	chr4:166299600-166299800	Active TSS	Colonic Mucosa	Colon
37	chr4:166299600-166299800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr4:166299600-166299800	Flanking Bivalent TSS/Enh	Fetal Heart	heart
39	chr4:166299600-166299800	Flanking Active TSS	Fetal Intestine Large	intestine
40	chr4:166299600-166299800	Flanking Active TSS	Fetal Intestine Small	intestine
41	chr4:166299600-166299800	Active TSS	Fetal Kidney	kidney
42	chr4:166299600-166299800	Active TSS	Fetal Muscle Trunk	muscle
43	chr4:166299600-166299800	Flanking Active TSS	Fetal Stomach	stomach
44	chr4:166299600-166299800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
45	chr4:166299600-166299800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
46	chr4:166299600-166299800	Bivalent Enhancer	Stomach Mucosa	stomach
47	chr4:166299600-166299800	Bivalent/Poised TSS	HSMMtube	muscle
48	chr4:166299600-166299800	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
49	chr4:166299600-166299800	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
50	chr4:166299600-166300000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell

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