Variant report

Variant	rs73427414
Chromosome Location	chr8:131424377-131424378
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131423687..131425231-chr8:131431826..131434765,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs56928931	0.83[AFR][1000 genomes]
rs57129132	0.83[AFR][1000 genomes]
rs59496740	0.83[AFR][1000 genomes]
rs73409308	1.00[AFR][1000 genomes]
rs73409312	1.00[AFR][1000 genomes]
rs73409315	0.83[AFR][1000 genomes]
rs73409341	1.00[AFR][1000 genomes]
rs73409344	1.00[AFR][1000 genomes]
rs73409350	1.00[AFR][1000 genomes]
rs73409355	0.83[AFR][1000 genomes]
rs73417906	1.00[AFR][1000 genomes]
rs73417935	1.00[AFR][1000 genomes]
rs73417940	0.83[AFR][1000 genomes]
rs73417948	1.00[AFR][1000 genomes]
rs73417951	1.00[AFR][1000 genomes]
rs73425601	1.00[AFR][1000 genomes]
rs73427323	1.00[AFR][1000 genomes]
rs73427331	1.00[AFR][1000 genomes]
rs73427358	0.83[AFR][1000 genomes]
rs73427361	0.83[AFR][1000 genomes]
rs73427426	1.00[AFR][1000 genomes]
rs73427428	1.00[AFR][1000 genomes]
rs73427429	1.00[AFR][1000 genomes]
rs73427430	1.00[AFR][1000 genomes]
rs73427432	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131395600-131434200	Weak transcription	Hela-S3	cervix
2	chr8:131409200-131426400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr8:131409200-131431800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr8:131409600-131428400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:131414400-131431400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:131414600-131431000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:131417000-131440600	Weak transcription	Fetal Kidney	kidney
8	chr8:131417200-131428000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr8:131418600-131428200	Weak transcription	HMEC	breast
10	chr8:131420200-131428200	Weak transcription	NHDF-Ad	bronchial
11	chr8:131420600-131428000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:131420600-131428000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr8:131420600-131428200	Weak transcription	NHLF	lung
14	chr8:131421000-131428400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr8:131421000-131433400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr8:131421600-131424600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:131421600-131424800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr8:131421800-131424400	Enhancers	Left Ventricle	heart
19	chr8:131421800-131424400	Enhancers	Right Atrium	heart
20	chr8:131422000-131431400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:131422200-131428200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:131422200-131431200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:131422400-131428200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:131422600-131425600	Enhancers	Fetal Muscle Leg	muscle
25	chr8:131422800-131424400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:131422800-131424400	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr8:131422800-131424800	Enhancers	Fetal Muscle Trunk	muscle
28	chr8:131422800-131425200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:131422800-131425400	Weak transcription	Fetal Heart	heart
30	chr8:131423000-131428600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr8:131423200-131424400	Enhancers	Spleen	Spleen
32	chr8:131423200-131424600	Enhancers	Adipose Nuclei	Adipose
33	chr8:131423200-131428400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:131423400-131424400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr8:131423400-131424400	Enhancers	Primary B cells from cord blood	blood
36	chr8:131423400-131424400	Enhancers	Primary B cells from peripheral blood	blood
37	chr8:131423400-131424400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:131423400-131424400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:131423400-131424400	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr8:131423400-131424400	Strong transcription	NHEK	skin
41	chr8:131423400-131424600	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr8:131423400-131424800	Enhancers	Lung	lung
43	chr8:131423400-131428200	Enhancers	HUVEC	blood vessel
44	chr8:131423600-131424400	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr8:131423600-131424400	Enhancers	Primary hematopoietic stem cells	blood
46	chr8:131423600-131424400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr8:131423600-131424400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:131423600-131424400	Enhancers	GM12878-XiMat	blood
49	chr8:131423600-131424400	Enhancers	HSMM	muscle
50	chr8:131423600-131424600	Enhancers	HepG2	liver

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