Variant report

Variant	rs1265169
Chromosome Location	chr1:95394535-95394536
allele	C/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	POLR2A	chr1:95390227-95394539	HepG2	liver:	n/a	n/a
2	FOXA1	chr1:95394475-95395014	A549	lung:	n/a	chr1:95394748-95394763
3	FOXA1	chr1:95394508-95395013	HepG2	liver:	n/a	chr1:95394748-95394763
4	FOXA2	chr1:95394457-95394908	A549	lung:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC44A3-1	chr1:95392928-95397328	NONHSAT004625

Variant related genes	Relation type
CNN3	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10493880	0.88[TSI][hapmap];0.87[EUR][1000 genomes]
rs1146460	0.80[EUR][1000 genomes]
rs1146461	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1146465	0.80[EUR][1000 genomes]
rs12741128	0.83[ASW][hapmap];0.83[TSI][hapmap]
rs2766010	0.82[CHB][hapmap];0.85[TSI][hapmap];0.83[EUR][1000 genomes]
rs2766011	0.83[EUR][1000 genomes]
rs4630159	0.83[ASW][hapmap];0.83[TSI][hapmap]
rs4847220	0.82[CHB][hapmap];0.81[EUR][1000 genomes]
rs4950058	0.83[ASW][hapmap];0.83[TSI][hapmap]
rs6687450	0.88[CHB][hapmap];0.80[EUR][1000 genomes]
rs6698046	0.82[CHB][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs7533303	0.82[CHB][hapmap]
rs7547662	0.82[CHB][hapmap]
rs860873	0.88[JPT][hapmap]

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95387000-95395400	Active TSS	Aorta	Aorta
2	chr1:95389600-95395000	Active TSS	Ovary	ovary
3	chr1:95389600-95395000	Active TSS	Right Atrium	heart
4	chr1:95389800-95395200	Active TSS	HSMMtube	muscle
5	chr1:95390000-95394600	Active TSS	Lung	lung
6	chr1:95390200-95395400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:95390800-95395000	Active TSS	GM12878-XiMat	blood
8	chr1:95391000-95394600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr1:95391000-95395800	Active TSS	HSMM	muscle
10	chr1:95392600-95395000	Active TSS	Colonic Mucosa	Colon
11	chr1:95393000-95394600	Flanking Active TSS	NH-A	brain
12	chr1:95393200-95394600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
13	chr1:95393200-95394600	Flanking Active TSS	Fetal Muscle Leg	muscle
14	chr1:95393200-95395200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:95393200-95395400	Flanking Active TSS	NHDF-Ad	bronchial
16	chr1:95393200-95395400	Flanking Active TSS	Osteobl	bone
17	chr1:95393200-95395600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:95393200-95395600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr1:95393200-95395600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:95393200-95395600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr1:95393200-95395600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr1:95393200-95395600	Flanking Active TSS	Liver	Liver
23	chr1:95393200-95395600	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr1:95393400-95394600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:95393400-95394600	Enhancers	Placenta Amnion	Placenta Amnion
26	chr1:95393400-95395000	Weak transcription	Gastric	stomach
27	chr1:95393400-95395400	Enhancers	Placenta	Placenta
28	chr1:95393400-95395600	Enhancers	Pancreas	Pancrea
29	chr1:95393400-95395800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:95393400-95395800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr1:95393400-95401800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:95393600-95394600	Flanking Active TSS	H9 Cell Line	embryonic stem cell
33	chr1:95393600-95394600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
34	chr1:95393600-95395200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr1:95393600-95395400	Active TSS	Brain Germinal Matrix	brain
36	chr1:95393600-95395400	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr1:95393600-95395600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:95393600-95395600	Flanking Active TSS	Rectal Smooth Muscle	rectum
39	chr1:95393600-95395800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:95393600-95404000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr1:95393800-95395000	Weak transcription	Spleen	Spleen
42	chr1:95393800-95395600	Enhancers	Fetal Stomach	stomach
43	chr1:95393800-95395600	Enhancers	Right Ventricle	heart
44	chr1:95393800-95396200	Enhancers	Fetal Lung	lung
45	chr1:95394000-95394600	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr1:95394000-95394600	Flanking Active TSS	NHLF	lung
47	chr1:95394000-95394800	Enhancers	Brain Substantia Nigra	brain
48	chr1:95394000-95394800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
49	chr1:95394000-95395000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr1:95394000-95395000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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