Variant report

Variant	rs73774355
Chromosome Location	chr5:95994167-95994168
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	FOXM1	chr5:95993795-95994548	ECC-1	luminal epithelium:	n/a	n/a
2	NFIC	chr5:95993772-95994816	ECC-1	luminal epithelium:	n/a	n/a
3	EP300	chr5:95993811-95994467	ECC-1	luminal epithelium:	n/a	chr5:95994033-95994047 chr5:95994044-95994058 chr5:95994045-95994054 chr5:95994307-95994321
4	TCF12	chr5:95993777-95994512	ECC-1	luminal epithelium:	n/a	n/a
5	YY1	chr5:95993917-95994253	ECC-1	luminal epithelium:	n/a	n/a
6	SRF	chr5:95993840-95994310	ECC-1	luminal epithelium:	n/a	chr5:95993944-95993953 chr5:95993942-95993955
7	NFIC	chr5:95993854-95994604	ECC-1	luminal epithelium:	n/a	n/a
8	TEAD4	chr5:95993820-95994494	ECC-1	luminal epithelium:	n/a	n/a
9	TCF12	chr5:95993713-95994571	ECC-1	luminal epithelium:	n/a	n/a
10	EP300	chr5:95993763-95994558	ECC-1	luminal epithelium:	n/a	chr5:95994033-95994047 chr5:95994044-95994058 chr5:95994045-95994054 chr5:95994307-95994321
11	TEAD4	chr5:95993836-95994660	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:95992791..95994704-chr5:96271567..96273123,2	MCF-7	breast:
2	chr5:95991448..95995486-chr5:95995938..96001045,12	MCF-7	breast:
3	chr5:95988867..95990687-chr5:95993052..95994690,2	K562	blood:
4	chr5:95984144..95985957-chr5:95992996..95994996,2	K562	blood:

Variant related genes	Relation type
CAST	TF binding region
ENSG00000153113	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11738135	1.00[ASN][1000 genomes]
rs12188168	1.00[ASN][1000 genomes]
rs17082200	1.00[ASN][1000 genomes]
rs17086504	0.98[EUR][1000 genomes]
rs17086588	1.00[ASN][1000 genomes]
rs17398838	0.98[EUR][1000 genomes]
rs17398914	0.98[EUR][1000 genomes]
rs17399025	0.98[EUR][1000 genomes]
rs17399215	1.00[EUR][1000 genomes]
rs17399522	0.93[EUR][1000 genomes]
rs17477045	1.00[EUR][1000 genomes]
rs17477471	0.98[EUR][1000 genomes]
rs2112277	1.00[ASN][1000 genomes]
rs4869305	1.00[ASN][1000 genomes]
rs55804164	0.98[EUR][1000 genomes]
rs55959916	0.80[AFR][1000 genomes]
rs56116814	1.00[ASN][1000 genomes]
rs56214211	0.98[EUR][1000 genomes]
rs56257788	1.00[ASN][1000 genomes]
rs57861617	0.80[AFR][1000 genomes]
rs58728530	0.80[AFR][1000 genomes]
rs6879175	1.00[ASN][1000 genomes]
rs73774353	0.80[AFR][1000 genomes]
rs73774357	0.80[AFR][1000 genomes]
rs73774358	0.80[AFR][1000 genomes]
rs73774359	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1024964	chr5:95742124-96065492	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv537811	chr5:95742124-96065492	Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv1015173	chr5:95987366-96153392	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95983200-95994200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr5:95988400-95994600	Enhancers	NHEK	skin
3	chr5:95989000-95996200	Weak transcription	Fetal Lung	lung
4	chr5:95989200-95996400	Weak transcription	Placenta	Placenta
5	chr5:95990000-95996400	Enhancers	Hela-S3	cervix
6	chr5:95990200-95994400	Enhancers	HSMM	muscle
7	chr5:95990400-95994400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:95990400-95994600	Enhancers	NHDF-Ad	bronchial
9	chr5:95990600-95995000	Enhancers	HMEC	breast
10	chr5:95990600-95996600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr5:95990800-95994200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr5:95990800-95994200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:95990800-95994200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:95990800-95994200	Enhancers	NH-A	brain
15	chr5:95990800-95994200	Enhancers	Osteobl	bone
16	chr5:95991000-95994600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:95991200-95994200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:95991600-95996600	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr5:95992000-95994200	Enhancers	HSMMtube	muscle
20	chr5:95992200-95996600	Weak transcription	Liver	Liver
21	chr5:95992200-95997600	Weak transcription	Gastric	stomach
22	chr5:95992400-95995200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr5:95992400-95996600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr5:95992400-95996600	Weak transcription	Small Intestine	intestine
25	chr5:95992400-95996800	Weak transcription	Pancreas	Pancrea
26	chr5:95992400-95997200	Weak transcription	Esophagus	oesophagus
27	chr5:95992600-95995800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:95992600-95996000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr5:95992600-95996200	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr5:95992600-95996800	Weak transcription	Colonic Mucosa	Colon
31	chr5:95992800-95995800	Weak transcription	Stomach Mucosa	stomach
32	chr5:95993000-95995800	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr5:95993000-95996200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr5:95993000-95996400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr5:95993000-95996400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr5:95993200-95994400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr5:95993200-95994800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:95993200-95995800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr5:95993200-95996200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:95993200-95996200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr5:95993200-95996200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr5:95993200-95996200	Enhancers	A549	lung
43	chr5:95993200-95996200	Weak transcription	GM12878-XiMat	blood
44	chr5:95993200-95996400	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr5:95993200-95996400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr5:95993200-95996600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr5:95993200-95996800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr5:95993400-95996000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr5:95993400-95996400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr5:95993400-95996400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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