Variant report

Variant	rs4073735
Chromosome Location	chr9:94488415-94488416
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:94484329..94487574-chr9:94487693..94490602,4	K562	blood:
2	chr9:94479518..94481920-chr9:94486342..94488730,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10820899	0.82[JPT][hapmap]
rs10992058	0.82[JPT][hapmap]
rs10992059	0.82[JPT][hapmap]
rs10992060	0.81[JPT][hapmap]
rs10992063	0.81[JPT][hapmap]
rs4073736	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.92[MKK][hapmap];0.98[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4237215	0.82[CHD][hapmap]
rs4493962	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7467403	0.82[JPT][hapmap]
rs7855522	0.82[CHB][hapmap];0.93[CHD][hapmap];0.87[JPT][hapmap];0.80[MKK][hapmap];0.82[YRI][hapmap];0.87[ASN][1000 genomes]
rs7869182	0.81[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs9409456	0.91[JPT][hapmap];0.86[YRI][hapmap];0.88[ASN][1000 genomes]
rs9409457	0.88[ASN][1000 genomes]
rs9409458	0.82[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];0.87[JPT][hapmap];0.83[MKK][hapmap];0.82[YRI][hapmap];0.87[ASN][1000 genomes]
rs9409649	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9409650	0.86[ASN][1000 genomes]
rs9409651	0.82[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];0.87[JPT][hapmap];0.83[MKK][hapmap];0.87[ASN][1000 genomes]
rs9409652	0.89[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];0.87[JPT][hapmap];0.91[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[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	nsv1045332	chr9:94352661-94656016	Active TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1047426	chr9:94363211-94758114	Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv531631	chr9:94373847-94633213	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4073735	S1PR3	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94458000-94489800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:94477200-94489800	Weak transcription	Right Atrium	heart
3	chr9:94477200-94496800	Weak transcription	NHLF	lung
4	chr9:94477200-94533000	Weak transcription	Fetal Kidney	kidney
5	chr9:94482400-94491600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr9:94483000-94496600	Strong transcription	Fetal Stomach	stomach
7	chr9:94483400-94489800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr9:94483400-94501600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr9:94483600-94504000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr9:94483600-94519400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr9:94483800-94489400	Strong transcription	Stomach Smooth Muscle	stomach
12	chr9:94484200-94489200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:94484400-94489000	Strong transcription	Gastric	stomach
14	chr9:94484400-94489400	Strong transcription	Fetal Intestine Small	intestine
15	chr9:94484600-94488600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr9:94484600-94488800	Weak transcription	Placenta	Placenta
17	chr9:94484600-94489000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr9:94484600-94489000	Strong transcription	Ovary	ovary
19	chr9:94485000-94489800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr9:94485400-94489000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr9:94485600-94491600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr9:94485800-94498400	Weak transcription	Fetal Muscle Leg	muscle
23	chr9:94486000-94489000	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr9:94486200-94521000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr9:94486800-94493000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr9:94486800-94496800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr9:94486800-94517400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr9:94487000-94489400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr9:94487000-94496600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr9:94487000-94502200	Weak transcription	Esophagus	oesophagus
31	chr9:94487000-94535400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr9:94487200-94489800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr9:94487200-94496800	Weak transcription	Spleen	Spleen
34	chr9:94487200-94497000	Weak transcription	Colonic Mucosa	Colon
35	chr9:94487400-94489400	Strong transcription	K562	blood
36	chr9:94487400-94489800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr9:94487400-94489800	Strong transcription	Fetal Lung	lung
38	chr9:94487600-94493800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr9:94487600-94496600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr9:94487800-94493000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr9:94488200-94490000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr9:94488200-94496600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr9:94488400-94489400	Weak transcription	Fetal Intestine Large	intestine
44	chr9:94488400-94489600	Strong transcription	Colon Smooth Muscle	Colon
45	chr9:94488400-94491400	Weak transcription	Rectal Smooth Muscle	rectum

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