Variant report

Variant	rs4147807
Chromosome Location	chr1:94579053-94579054
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	chr1:94571469..94574892-chr1:94577789..94583222,4	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10493869	0.83[CEU][hapmap];0.86[CHB][hapmap];0.85[ASN][1000 genomes]
rs10493870	0.83[CEU][hapmap];0.85[ASN][1000 genomes]
rs11165076	0.84[ASN][1000 genomes]
rs12025221	0.85[ASN][1000 genomes]
rs3789439	0.85[ASN][1000 genomes]
rs3789440	0.85[ASN][1000 genomes]
rs3789442	0.82[TSI][hapmap];0.85[ASN][1000 genomes]
rs3789443	0.85[ASN][1000 genomes]
rs3789444	0.83[CEU][hapmap];0.85[ASN][1000 genomes]
rs3827714	0.84[ASN][1000 genomes]
rs4147798	0.84[ASN][1000 genomes]
rs4147801	0.84[ASN][1000 genomes]
rs4147808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	esv1807674	chr1:94549175-94588191	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv871416	chr1:94566311-94635028	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv870932	chr1:94579053-94607607	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4147807	CCDC18	cis	parietal	SCAN

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94564600-94591800	Weak transcription	Right Atrium	heart
2	chr1:94567400-94585400	Weak transcription	Brain Anterior Caudate	brain
3	chr1:94571000-94583000	Weak transcription	Pancreas	Pancrea
4	chr1:94571800-94581400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:94574600-94579800	Enhancers	Placenta	Placenta
6	chr1:94574600-94583000	Weak transcription	Brain Substantia Nigra	brain
7	chr1:94575000-94579600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:94575600-94579400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:94575800-94583000	Weak transcription	Left Ventricle	heart
10	chr1:94576400-94581800	Weak transcription	Adipose Nuclei	Adipose
11	chr1:94576800-94579400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr1:94576800-94582000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr1:94577000-94581200	Weak transcription	Liver	Liver
14	chr1:94577000-94581200	Weak transcription	Spleen	Spleen
15	chr1:94577200-94582000	Weak transcription	Lung	lung
16	chr1:94577400-94579400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:94577400-94581400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:94577600-94579400	Weak transcription	Fetal Thymus	thymus
19	chr1:94577600-94581200	Enhancers	HepG2	liver
20	chr1:94577600-94582000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:94578400-94579200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
22	chr1:94578400-94579600	Enhancers	H9 Cell Line	embryonic stem cell
23	chr1:94578400-94579600	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr1:94578400-94579800	Enhancers	Fetal Brain Male	brain
25	chr1:94578400-94581800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr1:94578600-94579400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:94578600-94579800	Enhancers	Fetal Kidney	kidney
28	chr1:94578600-94580000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
29	chr1:94578800-94579200	Enhancers	Fetal Heart	heart
30	chr1:94578800-94579600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr1:94578800-94579600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:94578800-94579800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
33	chr1:94578800-94580000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
34	chr1:94579000-94579600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:94579000-94579600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr1:94579000-94579600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr1:94579000-94579600	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr1:94579000-94579800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr1:94579000-94579800	Enhancers	Fetal Muscle Leg	muscle
40	chr1:94579000-94580000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
41	chr1:94579000-94580000	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr1:94579000-94580000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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