Variant report

Variant	rs4648265
Chromosome Location	chr1:186647418-186647419
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	POLR2A	chr1:186647362-186650832	PBDE	blood:	n/a	n/a
2	POLR2A	chr1:186647276-186650764	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr1:186646993-186651195	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr1:186647266-186647715	IMR90	lung:	n/a	n/a
5	POLR2A	chr1:186647267-186647571	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr1:186647207-186651362	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:186641962..186644518-chr1:186645424..186648177,2	MCF-7	breast:
2	chr1:186646968..186647478-chr19:12903470..12904362,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000273129	TF binding region
PTGS2	TF binding region

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10752972	1.00[ASN][1000 genomes]
rs12088741	1.00[ASN][1000 genomes]
rs12738146	1.00[ASN][1000 genomes]
rs1883272	1.00[ASN][1000 genomes]
rs1997673	1.00[ASN][1000 genomes]
rs2064132	1.00[ASN][1000 genomes]
rs2066823	1.00[ASN][1000 genomes]
rs2066824	1.00[ASN][1000 genomes]
rs2205952	1.00[ASN][1000 genomes]
rs3218622	1.00[ASN][1000 genomes]
rs3218623	1.00[ASN][1000 genomes]
rs3218624	1.00[ASN][1000 genomes]
rs4140563	1.00[ASN][1000 genomes]
rs4648257	1.00[ASN][1000 genomes]
rs4648260	1.00[ASN][1000 genomes]
rs4648262	1.00[ASN][1000 genomes]
rs4648264	1.00[ASN][1000 genomes]
rs4648267	1.00[ASN][1000 genomes]
rs4648296	1.00[ASN][1000 genomes]
rs4648297	1.00[ASN][1000 genomes]
rs4648299	1.00[ASN][1000 genomes]
rs4651325	1.00[ASN][1000 genomes]
rs5270	1.00[ASN][1000 genomes]
rs5271	1.00[ASN][1000 genomes]
rs5278	1.00[ASN][1000 genomes]
rs55749947	1.00[ASN][1000 genomes]
rs56253891	1.00[ASN][1000 genomes]
rs57412622	1.00[ASN][1000 genomes]
rs61403154	1.00[ASN][1000 genomes]
rs66476634	1.00[ASN][1000 genomes]
rs74134986	1.00[ASN][1000 genomes]
rs74134987	1.00[ASN][1000 genomes]
rs74134988	1.00[ASN][1000 genomes]
rs74135000	1.00[ASN][1000 genomes]
rs74137506	1.00[ASN][1000 genomes]
rs74137507	1.00[ASN][1000 genomes]
rs74137508	1.00[ASN][1000 genomes]
rs74137513	1.00[ASN][1000 genomes]
rs7552522	1.00[ASN][1000 genomes]
rs760707	1.00[ASN][1000 genomes]
rs760708	1.00[ASN][1000 genomes]
rs760709	1.00[ASN][1000 genomes]
rs988905	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
7	nsv872595	chr1:186646005-186649485	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
8	nsv872596	chr1:186646480-186649308	Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv872597	chr1:186646480-186649485	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
10	nsv548404	chr1:186647104-186649308	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186632800-186649000	Weak transcription	Fetal Lung	lung
2	chr1:186639400-186648400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:186640200-186647800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:186640200-186647800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:186640800-186647800	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr1:186640800-186648000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr1:186640800-186648200	Weak transcription	Brain Angular Gyrus	brain
8	chr1:186640800-186649200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:186641400-186647600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:186641600-186648400	Weak transcription	NHLF	lung
11	chr1:186641800-186648400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr1:186642200-186647800	Strong transcription	HMEC	breast
13	chr1:186642200-186649200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:186642200-186649200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr1:186642400-186649200	Weak transcription	Gastric	stomach
16	chr1:186642600-186648200	Weak transcription	Fetal Intestine Small	intestine
17	chr1:186642800-186647800	Strong transcription	NHEK	skin
18	chr1:186643000-186647800	Weak transcription	Fetal Intestine Large	intestine
19	chr1:186644000-186647600	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr1:186644000-186648400	Weak transcription	Adipose Nuclei	Adipose
21	chr1:186644200-186649000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:186644200-186649000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:186644200-186649000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:186644200-186649200	Weak transcription	Lung	lung
25	chr1:186644400-186648400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:186644400-186649000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:186644400-186649200	Weak transcription	Aorta	Aorta
28	chr1:186644600-186648200	Weak transcription	Fetal Stomach	stomach
29	chr1:186644600-186648800	Weak transcription	Fetal Muscle Leg	muscle
30	chr1:186644600-186649000	Weak transcription	Ovary	ovary
31	chr1:186645200-186648000	Strong transcription	Osteobl	bone
32	chr1:186645800-186647800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:186645800-186647800	Weak transcription	Colon Smooth Muscle	Colon
34	chr1:186645800-186648400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr1:186645800-186649200	Weak transcription	Spleen	Spleen
36	chr1:186646000-186647800	Weak transcription	NHDF-Ad	bronchial
37	chr1:186646000-186648200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr1:186646000-186648200	Weak transcription	NH-A	brain
39	chr1:186646400-186647800	Genic enhancers	Hela-S3	cervix
40	chr1:186646400-186648400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:186646400-186651000	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr1:186646600-186648000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr1:186646600-186648200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
44	chr1:186646800-186647600	Transcr. at gene 5' and 3'	HUVEC	blood vessel
45	chr1:186646800-186647800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:186646800-186649200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:186647000-186647600	Weak transcription	A549	lung
48	chr1:186647000-186647800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr1:186647000-186647800	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr1:186647000-186648200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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