Variant report

Variant	rs71427017
Chromosome Location	chr2:95808221-95808222
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:95807568..95810120-chr2:95838335..95841142,2	MCF-7	breast:
2	chr2:95800118..95802483-chr2:95805296..95808233,2	K562	blood:
3	chr2:95795592..95798497-chr2:95807423..95809388,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12471385	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs17803470	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005016	chr2:95327875-95914467	Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv817258	chr2:95618109-96340788	Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv482276	chr2:95711972-95888406	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1008945	chr2:95745367-96062107	Weak transcription Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv817299	chr2:95799814-96159275	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs71427017	AC008268.2	cis	Whole Blood	GTEx
rs71427017	AC008268.2	cis	Heart Left Ventricle	GTEx

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:95788200-95809800	Weak transcription	Right Ventricle	heart
2	chr2:95803000-95821600	ZNF genes & repeats	Fetal Brain Female	brain
3	chr2:95803400-95821400	ZNF genes & repeats	Brain Germinal Matrix	brain
4	chr2:95803600-95822600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
5	chr2:95805000-95809600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:95805200-95808400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:95805200-95809600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:95806000-95809600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:95806800-95810400	ZNF genes & repeats	Fetal Brain Male	brain
10	chr2:95807000-95808400	Weak transcription	Ovary	ovary
11	chr2:95807600-95808800	ZNF genes & repeats	Stomach Smooth Muscle	stomach
12	chr2:95807600-95819200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
13	chr2:95807800-95821200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
14	chr2:95807800-95823200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:95808000-95821600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
16	chr2:95808000-95821600	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
17	chr2:95808000-95823200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:95808200-95808400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:95808200-95819000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
20	chr2:95808200-95821200	ZNF genes & repeats	Adipose Nuclei	Adipose
21	chr2:95808200-95821400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:95808200-95821400	ZNF genes & repeats	Fetal Lung	lung
23	chr2:95808200-95822000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:95808200-95822200	ZNF genes & repeats	Fetal Muscle Leg	muscle
25	chr2:95808200-95823000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
26	chr2:95808200-95823400	ZNF genes & repeats	Liver	Liver

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