Variant report

Variant	rs2515173
Chromosome Location	chr8:104121274-104121275
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:104121135..104121844-chr8:104148279..104149267,2	MCF-7	breast:

Extended variants
information (count: 4 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2515169	0.94[EUR][1000 genomes];0.97[ASN][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	nsv831413	chr8:104085141-104269789	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv891247	chr8:104090979-104121862	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2515173	PABPC1	cis	cerebellum	SCAN
rs2515173	TATDN1	trans	cerebellum	SCAN

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104092400-104121600	Weak transcription	Right Atrium	heart
2	chr8:104116800-104123400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:104116800-104124200	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr8:104117000-104124200	Enhancers	Brain Angular Gyrus	brain
5	chr8:104117600-104121600	Weak transcription	Fetal Stomach	stomach
6	chr8:104117600-104123800	Enhancers	Brain Cingulate Gyrus	brain
7	chr8:104117800-104121400	Weak transcription	Adipose Nuclei	Adipose
8	chr8:104117800-104121400	Weak transcription	HSMM	muscle
9	chr8:104117800-104122200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr8:104117800-104122800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:104117800-104123600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:104118000-104121400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:104118000-104121400	Weak transcription	HMEC	breast
14	chr8:104118400-104123600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:104118600-104122200	Weak transcription	Left Ventricle	heart
16	chr8:104119000-104121600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:104119000-104127800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr8:104119400-104123400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr8:104119400-104134000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:104119600-104121400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr8:104119600-104121600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr8:104119600-104123400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr8:104120000-104121400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:104120200-104121400	Weak transcription	Brain Anterior Caudate	brain
25	chr8:104120400-104121400	Enhancers	Brain Germinal Matrix	brain
26	chr8:104120400-104121400	Enhancers	NHDF-Ad	bronchial
27	chr8:104120400-104123200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:104120400-104123400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:104120800-104121400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:104120800-104122600	Enhancers	Muscle Satellite Cultured Cells	--
31	chr8:104120800-104123200	Enhancers	Osteobl	bone
32	chr8:104121000-104121400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:104121000-104121400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:104121000-104121400	Enhancers	NH-A	brain
35	chr8:104121000-104122000	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr8:104121000-104122000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:104121000-104122000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:104121000-104122600	Enhancers	HSMMtube	muscle
39	chr8:104121000-104122800	Enhancers	NHLF	lung
40	chr8:104121000-104123200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr8:104121000-104123800	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr8:104121000-104124000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr8:104121200-104121800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:104121200-104121800	Flanking Active TSS	Brain Substantia Nigra	brain
45	chr8:104121200-104122000	Flanking Active TSS	Brain Hippocampus Middle	brain

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