Variant report

Variant	rs2279300
Chromosome Location	chr8:49536687-49536688
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:49533286..49535227-chr8:49536335..49539012,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253702	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10957175	0.90[CEU][hapmap];0.90[CHB][hapmap];0.83[GIH][hapmap];0.88[JPT][hapmap];0.90[MEX][hapmap];0.83[TSI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16938118	0.90[CEU][hapmap];0.84[CHB][hapmap];0.83[GIH][hapmap];0.88[JPT][hapmap];0.84[MEX][hapmap];0.83[TSI][hapmap]
rs2200083	0.90[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2200084	0.90[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2279301	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2279302	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs2279303	0.89[GIH][hapmap]
rs2291225	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2384925	0.90[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.90[MEX][hapmap];0.83[TSI][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2891641	0.90[CHB][hapmap];0.88[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34358325	0.88[AFR][1000 genomes]
rs4422800	0.84[ASW][hapmap];0.91[GIH][hapmap];0.84[LWK][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes]
rs4614022	0.89[GIH][hapmap]
rs60342397	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6471906	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6990833	0.83[ASW][hapmap];0.82[CEU][hapmap];0.81[LWK][hapmap];0.95[MEX][hapmap]
rs7010209	0.86[AFR][1000 genomes]
rs7012665	0.83[ASW][hapmap];0.82[CEU][hapmap];0.81[LWK][hapmap];0.94[MEX][hapmap]
rs733192	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7818323	0.83[LWK][hapmap]
rs9298043	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9298044	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3361307	chr8:49536599-49540897	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49526400-49537800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:49533000-49537200	Weak transcription	HUVEC	blood vessel
3	chr8:49533800-49537600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr8:49534000-49538600	Weak transcription	Fetal Kidney	kidney
5	chr8:49534400-49536800	Weak transcription	Right Ventricle	heart
6	chr8:49534400-49537200	Weak transcription	Spleen	Spleen
7	chr8:49534400-49537400	Weak transcription	Right Atrium	heart
8	chr8:49534400-49556000	Weak transcription	Pancreas	Pancrea
9	chr8:49534600-49536800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr8:49534600-49537000	Weak transcription	Adipose Nuclei	Adipose
11	chr8:49534600-49537400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:49534600-49537400	Weak transcription	Left Ventricle	heart
13	chr8:49534600-49537400	Weak transcription	Lung	lung
14	chr8:49534600-49538600	Weak transcription	Fetal Lung	lung
15	chr8:49534600-49538800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:49534600-49538800	Weak transcription	Hela-S3	cervix
17	chr8:49534600-49539000	Weak transcription	A549	lung
18	chr8:49534600-49539800	Weak transcription	HSMM	muscle
19	chr8:49534600-49539800	Weak transcription	NH-A	brain
20	chr8:49534600-49539800	Weak transcription	Osteobl	bone
21	chr8:49534600-49540000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:49534600-49543000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:49534800-49537000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr8:49534800-49537400	Weak transcription	Placenta	Placenta
25	chr8:49534800-49539000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:49534800-49539600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:49534800-49539800	Weak transcription	NHLF	lung
28	chr8:49534800-49540000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:49535200-49539800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:49535200-49541000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr8:49535200-49541600	Weak transcription	Gastric	stomach
32	chr8:49535400-49537600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr8:49535800-49537000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:49535800-49537600	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr8:49536400-49536800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:49536400-49536800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:49536400-49539200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr8:49536600-49536800	Enhancers	Fetal Muscle Leg	muscle
39	chr8:49536600-49537400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:49536600-49539800	Weak transcription	NHDF-Ad	bronchial

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