Variant report

Variant	rs74134741
Chromosome Location	chr1:186651992-186651993
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	CTCF	chr1:186651920-186652070	HEEpiC	esophagus:	n/a	n/a
2	GATA3	chr1:186651770-186652410	SK-N-SH	brain:	n/a	chr1:186652235-186652256 chr1:186652116-186652129
3	CTCF	chr1:186651893-186652322	MCF-7	breast:	n/a	chr1:186652059-186652080 chr1:186652064-186652082 chr1:186652066-186652079
4	RAD21	chr1:186651691-186652378	SK-N-SH	brain:	n/a	chr1:186652062-186652081
5	CTCF	chr1:186651913-186652260	MCF-7	breast:	n/a	chr1:186652059-186652080 chr1:186652064-186652082 chr1:186652066-186652079
6	RAD21	chr1:186651860-186652212	ECC-1	luminal epithelium:	n/a	chr1:186652062-186652081
7	CTCF	chr1:186651960-186652110	SAEC	small airway:	n/a	chr1:186652059-186652080 chr1:186652064-186652082 chr1:186652066-186652079
8	CTCF	chr1:186651920-186652070	GM06990	blood:	n/a	n/a
9	CTCF	chr1:186651971-186652220	A549	lung:	n/a	chr1:186652059-186652080 chr1:186652064-186652082 chr1:186652066-186652079
10	RAD21	chr1:186651953-186652337	MCF-7	breast:	n/a	chr1:186652062-186652081
11	RFX5	chr1:186651005-186652278	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr1:186651955-186652218	HUVEC	blood vessel:	n/a	chr1:186652059-186652080 chr1:186652064-186652082 chr1:186652066-186652079
13	CTCF	chr1:186651900-186652050	HAc	cerebellar:	n/a	n/a
14	RAD21	chr1:186651908-186652185	H1-hESC	embryonic stem cell:	n/a	chr1:186652062-186652081
15	CTCF	chr1:186651900-186652050	WI-38	lung:	n/a	n/a
16	GATA3	chr1:186651929-186652368	SK-N-SH	brain:	n/a	chr1:186652235-186652256 chr1:186652116-186652129
17	CTCF	chr1:186651900-186652050	A549	lung:	n/a	n/a
18	RAD21	chr1:186651911-186652247	H1-hESC	embryonic stem cell:	n/a	chr1:186652062-186652081
19	CTCF	chr1:186651940-186652090	Hela-S3	cervix:	n/a	chr1:186652059-186652080 chr1:186652064-186652082 chr1:186652066-186652079
20	CTCF	chr1:186651900-186652050	HFF	foreskin:	n/a	n/a
21	CTCF	chr1:186651940-186652090	HVMF	connective:	n/a	chr1:186652059-186652080 chr1:186652064-186652082 chr1:186652066-186652079
22	CTCF	chr1:186651802-186652366	HCT-116	colon:	n/a	chr1:186652059-186652080 chr1:186652064-186652082 chr1:186652066-186652079
23	CTCF	chr1:186651980-186652130	HUVEC	blood vessel:	n/a	chr1:186652059-186652080 chr1:186652064-186652082 chr1:186652066-186652079
24	RAD21	chr1:186651914-186652218	GM12878	blood:	n/a	chr1:186652062-186652081
25	CTCF	chr1:186651980-186652130	GM12875	blood:	n/a	chr1:186652059-186652080 chr1:186652064-186652082 chr1:186652066-186652079
26	RAD21	chr1:186651951-186652151	GM12878	blood:	n/a	chr1:186652062-186652081
27	CTCF	chr1:186651940-186652090	NHDF-neo	bronchial:	n/a	chr1:186652059-186652080 chr1:186652064-186652082 chr1:186652066-186652079
28	RAD21	chr1:186651918-186652246	SK-N-SH_RA	brain:	n/a	chr1:186652062-186652081
29	CTCF	chr1:186651982-186652150	Lung_OC	lung:	n/a	chr1:186652059-186652080 chr1:186652064-186652082 chr1:186652066-186652079
30	CTCF	chr1:186651920-186652070	HVMF	connective:	n/a	n/a
31	CTCF	chr1:186651940-186652090	AG04450	lung:	n/a	chr1:186652059-186652080 chr1:186652064-186652082 chr1:186652066-186652079
32	CTCF	chr1:186651980-186652130	HMEC	breast:	n/a	chr1:186652059-186652080 chr1:186652064-186652082 chr1:186652066-186652079
33	CTCF	chr1:186651900-186652050	HCM	heart:	n/a	n/a
34	BRCA1	chr1:186650113-186652019	Hela-S3	cervix:	n/a	chr1:186650261-186650268 chr1:186651446-186651453
35	CTCF	chr1:186651980-186652130	HCPEpiC	choroid plexus:	n/a	chr1:186652059-186652080 chr1:186652064-186652082 chr1:186652066-186652079
36	CTCF	chr1:186651920-186652070	HFF-Myc	foreskin:	n/a	n/a
37	CTCF	chr1:186651980-186652130	HPF	lung:	n/a	chr1:186652059-186652080 chr1:186652064-186652082 chr1:186652066-186652079
38	CTCF	chr1:186651932-186652150	H1-hESC	embryonic stem cell:	n/a	chr1:186652059-186652080 chr1:186652064-186652082 chr1:186652066-186652079
39	CTCF	chr1:186651906-186652187	A549	lung:	n/a	chr1:186652059-186652080 chr1:186652064-186652082 chr1:186652066-186652079
40	CTCF	chr1:186651960-186652110	HRPEpiC	eye:	n/a	chr1:186652059-186652080 chr1:186652064-186652082 chr1:186652066-186652079
41	RAD21	chr1:186651731-186652312	A549	lung:	n/a	chr1:186652062-186652081
42	CTCF	chr1:186651980-186652130	HMF	breast:	n/a	chr1:186652059-186652080 chr1:186652064-186652082 chr1:186652066-186652079
43	CTCF	chr1:186651920-186652070	RPTEC	kidney:	n/a	n/a
44	CTCF	chr1:186651920-186652070	NHLF	lung:	n/a	n/a
45	SMC3	chr1:186651670-186652257	Hela-S3	cervix:	n/a	chr1:186652066-186652080
46	TBP	chr1:186648845-186652253	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr1:186651920-186652070	HMEC	breast:	n/a	n/a
48	CTCF	chr1:186651980-186652130	HRE	kidney:	n/a	chr1:186652059-186652080 chr1:186652064-186652082 chr1:186652066-186652079
49	RAD21	chr1:186651656-186652277	IMR90	lung:	n/a	chr1:186652062-186652081
50	CTCF	chr1:186651920-186652070	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:186574544..186575451-chr1:186651610..186652900,9	MCF-7	breast:
2	chr1:186651918..186653014-chr1:186954800..186955506,3	MCF-7	breast:
3	chr1:186451542..186452284-chr1:186651474..186652178,3	MCF-7	breast:
4	chr1:186651621..186652400-chr1:186954720..186955299,2	MCF-7	breast:
5	chr1:186451532..186452512-chr1:186651563..186652631,6	MCF-7	breast:

Variant related genes	Relation type
PTGS2	TF binding region

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs4648293	1.00[AMR][1000 genomes]
rs4648300	1.00[AMR][1000 genomes]
rs4648301	1.00[AMR][1000 genomes]
rs5273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55822551	1.00[AMR][1000 genomes]
rs74134716	1.00[AMR][1000 genomes]
rs74134720	1.00[AMR][1000 genomes]
rs74134722	1.00[AMR][1000 genomes]
rs74134773	1.00[AMR][1000 genomes]
rs74134977	1.00[AMR][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	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv2762854	chr1:186547101-186847574	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv872590	chr1:186557453-187500338	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv470750	chr1:186642429-186700959	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv548403	chr1:186642429-186700959	Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186647000-186652000	Active TSS	Stomach Smooth Muscle	stomach
2	chr1:186648400-186652000	Active TSS	Right Atrium	heart
3	chr1:186648600-186652000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:186648600-186652000	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr1:186648600-186652400	Active TSS	NHEK	skin
6	chr1:186649200-186652400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:186650200-186652200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:186650400-186652000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:186650600-186652000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:186650600-186652200	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr1:186650800-186652000	Flanking Active TSS	HUVEC	blood vessel
12	chr1:186650800-186652000	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr1:186651000-186652000	Flanking Active TSS	Osteobl	bone
14	chr1:186651000-186652600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:186651000-186653200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:186651200-186652000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:186651200-186652800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr1:186651400-186652000	Flanking Active TSS	A549	lung
19	chr1:186651600-186652000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:186651600-186657000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:186651800-186652000	Enhancers	Adipose Nuclei	Adipose
22	chr1:186651800-186652000	Flanking Active TSS	Colon Smooth Muscle	Colon
23	chr1:186651800-186652000	Flanking Active TSS	Rectal Smooth Muscle	rectum
24	chr1:186651800-186652000	Flanking Active TSS	NHDF-Ad	bronchial
25	chr1:186651800-186653000	Enhancers	NHLF	lung
26	chr1:186651800-186653400	Enhancers	Hela-S3	cervix

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