Variant report

Variant	rs71300383
Chromosome Location	chr3:145899164-145899165
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:145877078..145879512-chr3:145896928..145899546,3	MCF-7	breast:
2	chr3:145897285..145900091-chr3:145902174..145904427,2	MCF-7	breast:
3	chr3:145885862..145887990-chr3:145898381..145900841,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152952	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs13065572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13066226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13075648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13079521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13088659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13095139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34041519	0.87[AMR][1000 genomes]
rs34092280	1.00[AMR][1000 genomes]
rs34201307	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs34248972	0.87[AMR][1000 genomes]
rs34298175	1.00[AMR][1000 genomes]
rs34392701	1.00[AFR][1000 genomes]
rs34589717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34695557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34901222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35017529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35020806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35080774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35479343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35520151	1.00[AFR][1000 genomes]
rs35687630	1.00[AFR][1000 genomes]
rs35880277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35969739	1.00[AMR][1000 genomes]
rs71300372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71300373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71300374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71300377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71300378	1.00[AMR][1000 genomes]
rs71300379	1.00[AMR][1000 genomes]
rs71300380	1.00[AMR][1000 genomes]
rs71300381	1.00[AFR][1000 genomes]
rs71621137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877613	chr3:145833232-145912055	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1011146	chr3:145859022-145911429	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1012485	chr3:145861750-145947125	Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv536758	chr3:145861750-145947125	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:145880800-145914400	Weak transcription	Left Ventricle	heart
2	chr3:145883000-145913000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr3:145884000-145903400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr3:145884800-145910800	Weak transcription	Liver	Liver
5	chr3:145885000-145908000	Weak transcription	Aorta	Aorta
6	chr3:145885600-145907800	Weak transcription	Ovary	ovary
7	chr3:145888600-145902000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:145895200-145902000	Weak transcription	A549	lung
9	chr3:145895600-145902000	Weak transcription	HSMM	muscle
10	chr3:145895800-145918200	Weak transcription	NHDF-Ad	bronchial
11	chr3:145896000-145907800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr3:145896000-145910600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:145896400-145907800	Weak transcription	Adipose Nuclei	Adipose
14	chr3:145896400-145910800	Weak transcription	Fetal Lung	lung
15	chr3:145896600-145902000	Weak transcription	Colon Smooth Muscle	Colon
16	chr3:145896600-145911200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:145897000-145933600	Weak transcription	Fetal Stomach	stomach
18	chr3:145897400-145902000	Weak transcription	HUVEC	blood vessel
19	chr3:145898400-145899800	Enhancers	Osteobl	bone
20	chr3:145898400-145900000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:145898600-145901800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:145898600-145902000	Weak transcription	NHEK	skin
23	chr3:145898800-145899800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:145899000-145899200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr3:145899000-145899600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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