Variant report

Variant	rs71511927
Chromosome Location	chr8:49435873-49435874
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
ENSG00000253455	Chromatin interaction
ENSG00000253702	Chromatin interaction

rs_ID	r²[population]
rs10504064	0.91[EUR][1000 genomes]
rs10504065	0.92[EUR][1000 genomes]
rs13250857	0.83[EUR][1000 genomes]
rs13256488	0.94[EUR][1000 genomes]
rs13265583	0.91[EUR][1000 genomes]
rs13268764	0.86[EUR][1000 genomes]
rs13269670	0.84[ASN][1000 genomes]
rs13280598	0.94[EUR][1000 genomes]
rs17624216	0.94[EUR][1000 genomes]
rs17701535	0.91[EUR][1000 genomes]
rs34020503	0.89[EUR][1000 genomes]
rs34313379	0.83[EUR][1000 genomes]
rs34643739	0.94[EUR][1000 genomes]
rs34738967	0.94[EUR][1000 genomes]
rs34743445	0.91[EUR][1000 genomes]
rs34907852	0.91[EUR][1000 genomes]
rs35155538	0.91[EUR][1000 genomes]
rs35197548	0.94[EUR][1000 genomes]
rs35461457	0.94[EUR][1000 genomes]
rs35698540	0.94[EUR][1000 genomes]
rs35803425	0.94[EUR][1000 genomes]
rs35832338	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35886671	0.94[EUR][1000 genomes]
rs6987448	0.91[EUR][1000 genomes]
rs71511918	0.94[EUR][1000 genomes]
rs71511920	0.94[EUR][1000 genomes]
rs71511921	0.94[EUR][1000 genomes]
rs71511925	0.94[EUR][1000 genomes]
rs71511926	0.91[EUR][1000 genomes]
rs71511928	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7826101	0.91[EUR][1000 genomes]
rs872140	0.91[EUR][1000 genomes]
rs872141	0.91[EUR][1000 genomes]
rs964460	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]

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

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	chr8:49430200-49436000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr8:49432000-49438800	Enhancers	Fetal Muscle Leg	muscle
7	chr8:49432600-49438000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:49432600-49438200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr8:49433000-49436000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:49433400-49436000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:49433400-49437000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:49433600-49436200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:49433600-49436800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:49433600-49436800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:49434000-49436400	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr8:49434200-49436400	Bivalent Enhancer	Adipose Nuclei	Adipose
17	chr8:49434800-49436800	Enhancers	Fetal Lung	lung
18	chr8:49435000-49436200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr8:49435000-49436200	Enhancers	Left Ventricle	heart
20	chr8:49435200-49436000	Enhancers	Placenta	Placenta
21	chr8:49435200-49436000	Bivalent Enhancer	Fetal Thymus	thymus
22	chr8:49435200-49436200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr8:49435200-49436200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr8:49435200-49436400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
25	chr8:49435200-49436400	Enhancers	Aorta	Aorta
26	chr8:49435200-49436400	Bivalent Enhancer	Fetal Stomach	stomach
27	chr8:49435200-49437200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:49435200-49438000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:49435200-49439400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr8:49435200-49441400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:49435400-49436200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr8:49435400-49436200	Flanking Active TSS	NHEK	skin
33	chr8:49435400-49438200	Weak transcription	NHLF	lung
34	chr8:49435600-49436000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:49435600-49439600	Weak transcription	NHDF-Ad	bronchial
36	chr8:49435800-49436000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:49435800-49436000	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr8:49435800-49436000	Bivalent Enhancer	Right Ventricle	heart
39	chr8:49435800-49436200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr8:49435800-49436200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr8:49435800-49436400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
42	chr8:49435800-49436400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:49435800-49436400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
44	chr8:49435800-49437200	Enhancers	Esophagus	oesophagus
45	chr8:49435800-49437200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr8:49435800-49437200	Enhancers	HMEC	breast
47	chr8:49435800-49437800	Weak transcription	Fetal Kidney	kidney
48	chr8:49435800-49438000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:49435800-49439000	Weak transcription	Osteobl	bone
50	chr8:49435800-49439600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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