Variant report

Variant	rs7012665
Chromosome Location	chr8:49436319-49436320
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:49435353..49436925-chr8:49666877..49668395,2	MCF-7	breast:
2	chr8:49435177..49436949-chr8:49532921..49535598,2	MCF-7	breast:
3	chr8:49426044..49428743-chr8:49433288..49436593,3	K562	blood:
4	chr8:49425584..49432430-chr8:49432984..49438812,10	MCF-7	breast:
5	chr8:49425999..49428743-chr8:49432404..49436593,3	K562	blood:

Variant related genes	Relation type
ENSG00000253140	Chromatin interaction
ENSG00000253702	Chromatin interaction
ENSG00000253455	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10087276	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10089933	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10091807	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10096760	0.82[EUR][1000 genomes]
rs10104817	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10107213	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10957175	0.94[MEX][hapmap]
rs11990598	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12386841	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13263338	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13265552	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13281995	0.84[EUR][1000 genomes]
rs16938118	0.88[MEX][hapmap]
rs1910251	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2279300	0.83[ASW][hapmap];0.82[CEU][hapmap];0.81[LWK][hapmap];0.94[MEX][hapmap]
rs2279301	0.83[ASW][hapmap];0.82[CEU][hapmap];0.81[LWK][hapmap];0.94[MEX][hapmap]
rs2279302	0.83[ASW][hapmap];0.82[CEU][hapmap];0.81[LWK][hapmap];0.94[MEX][hapmap]
rs2291225	0.82[CEU][hapmap]
rs2384925	0.82[GIH][hapmap];0.94[MEX][hapmap]
rs28689821	0.88[AFR][1000 genomes]
rs2891637	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6471788	0.82[EUR][1000 genomes]
rs6471906	0.82[CEU][hapmap]
rs6981394	0.84[AFR][1000 genomes]
rs6988484	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6990833	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7000226	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7013462	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7014106	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs733192	0.82[CEU][hapmap]
rs7818323	0.94[ASW][hapmap];0.95[CEU][hapmap];0.89[CHB][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];0.83[JPT][hapmap];0.91[LWK][hapmap];0.96[MKK][hapmap];0.92[TSI][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9298007	0.81[EUR][1000 genomes]
rs937651	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs949635	0.84[EUR][1000 genomes]
rs9987211	0.82[EUR][1000 genomes]

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49427800-49438200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:49428000-49438400	Weak transcription	Psoas Muscle	Psoas
3	chr8:49428000-49448600	Weak transcription	Right Atrium	heart
4	chr8:49428400-49438400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:49432000-49438800	Enhancers	Fetal Muscle Leg	muscle
6	chr8:49432600-49438000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:49432600-49438200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr8:49433400-49437000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:49433600-49436800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:49433600-49436800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:49434000-49436400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr8:49434200-49436400	Bivalent Enhancer	Adipose Nuclei	Adipose
13	chr8:49434800-49436800	Enhancers	Fetal Lung	lung
14	chr8:49435200-49436400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
15	chr8:49435200-49436400	Enhancers	Aorta	Aorta
16	chr8:49435200-49436400	Bivalent Enhancer	Fetal Stomach	stomach
17	chr8:49435200-49437200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:49435200-49438000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:49435200-49439400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr8:49435200-49441400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:49435400-49438200	Weak transcription	NHLF	lung
22	chr8:49435600-49439600	Weak transcription	NHDF-Ad	bronchial
23	chr8:49435800-49436400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
24	chr8:49435800-49436400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:49435800-49436400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
26	chr8:49435800-49437200	Enhancers	Esophagus	oesophagus
27	chr8:49435800-49437200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr8:49435800-49437200	Enhancers	HMEC	breast
29	chr8:49435800-49437800	Weak transcription	Fetal Kidney	kidney
30	chr8:49435800-49438000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:49435800-49439000	Weak transcription	Osteobl	bone
32	chr8:49435800-49439600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:49435800-49441800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr8:49435800-49442000	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr8:49436000-49436600	Enhancers	Fetal Brain Female	brain
36	chr8:49436000-49436800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr8:49436000-49436800	Enhancers	Fetal Thymus	thymus
38	chr8:49436000-49437200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr8:49436000-49438200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:49436000-49438600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr8:49436200-49437000	Weak transcription	Left Ventricle	heart
42	chr8:49436200-49437200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr8:49436200-49437400	Enhancers	NHEK	skin
44	chr8:49436200-49437800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr8:49436200-49438200	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr8:49436200-49440600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr8:49436200-49441800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr8:49436200-49442000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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