Variant report

Variant	rs10113242
Chromosome Location	chr8:39976970-39976971
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	chr8:39956140..39958982-chr8:39975836..39978547,3	MCF-7	breast:
2	chr8:39976602..39978304-chr8:40014448..40017258,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11776646	0.81[CEU][hapmap]
rs12541701	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12682158	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs13257096	0.91[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4370521	0.85[CEU][hapmap]
rs4737044	0.87[CEU][hapmap]
rs7008253	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv539555	chr8:39683857-40673606	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534582	chr8:39884590-40653224	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10113242	STAR	cis	parietal	SCAN
rs10113242	DKK4	cis	parietal	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39973600-39982400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:39973600-39984000	Weak transcription	Left Ventricle	heart
3	chr8:39974000-39977800	Weak transcription	Fetal Lung	lung
4	chr8:39974200-39981400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr8:39976200-39977200	Flanking Active TSS	A549	lung
6	chr8:39976200-39978000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:39976200-39978000	Enhancers	Hela-S3	cervix
8	chr8:39976200-39978400	Enhancers	HepG2	liver
9	chr8:39976400-39977000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:39976400-39977000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:39976400-39977000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:39976400-39977000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr8:39976400-39977000	Enhancers	Colon Smooth Muscle	Colon
14	chr8:39976400-39977000	Enhancers	Fetal Intestine Large	intestine
15	chr8:39976400-39977200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr8:39976400-39977200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:39976400-39977200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:39976400-39977200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr8:39976400-39977200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr8:39976400-39977200	Enhancers	Stomach Mucosa	stomach
21	chr8:39976400-39977200	Enhancers	NH-A	brain
22	chr8:39976400-39977400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr8:39976400-39977400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:39976400-39977400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:39976400-39978000	Enhancers	Placenta Amnion	Placenta Amnion
26	chr8:39976400-39978400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:39976400-39978400	Enhancers	Pancreas	Pancrea
28	chr8:39976600-39977000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr8:39976600-39977000	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr8:39976600-39977000	Enhancers	Primary hematopoietic stem cells	blood
31	chr8:39976600-39977000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:39976600-39977000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:39976600-39977000	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr8:39976600-39977000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:39976600-39977000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:39976600-39977200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr8:39976600-39977800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr8:39976600-39981400	Weak transcription	Adipose Nuclei	Adipose
39	chr8:39976600-39981400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr8:39976800-39977000	Flanking Active TSS	HUVEC	blood vessel
41	chr8:39976800-39981400	Weak transcription	Fetal Intestine Small	intestine
42	chr8:39976800-39981400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr8:39976800-39981800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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