Variant report

Variant	rs7730096
Chromosome Location	chr5:94363349-94363350
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10037916	0.82[CHB][hapmap];0.86[CHD][hapmap];0.87[ASN][1000 genomes]
rs10476532	0.86[CHB][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs11135418	0.87[CHB][hapmap];0.91[CHD][hapmap];0.82[ASN][1000 genomes]
rs11135419	0.82[CHD][hapmap]
rs11738596	0.85[ASN][1000 genomes]
rs11742979	0.90[ASN][1000 genomes]
rs11745610	0.85[ASN][1000 genomes]
rs11747157	0.90[ASN][1000 genomes]
rs12514324	0.89[ASN][1000 genomes]
rs12652623	0.86[CHB][hapmap];0.89[CHD][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs13156286	0.90[CHB][hapmap]
rs13160664	0.87[CHB][hapmap];0.85[YRI][hapmap];0.82[ASN][1000 genomes]
rs13181869	0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1426098	0.87[ASW][hapmap];0.93[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];0.86[GIH][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.84[TSI][hapmap];0.92[YRI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1426100	0.91[CHB][hapmap];0.91[CHD][hapmap];0.81[ASN][1000 genomes]
rs169822	0.81[CEU][hapmap];0.86[MEX][hapmap]
rs17084368	0.82[CHB][hapmap];0.89[CHD][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs2114194	0.89[GIH][hapmap];0.85[YRI][hapmap]
rs2194946	0.82[ASN][1000 genomes]
rs2347478	0.90[CHB][hapmap];0.81[ASN][1000 genomes]
rs28707160	0.88[ASN][1000 genomes]
rs2881646	0.86[CHB][hapmap];0.81[CHD][hapmap];0.81[ASN][1000 genomes]
rs4869119	0.87[CHB][hapmap]
rs4869227	0.91[CHB][hapmap];0.89[CHD][hapmap];0.89[GIH][hapmap];0.82[TSI][hapmap];0.81[ASN][1000 genomes]
rs4869228	0.91[CHB][hapmap];0.88[YRI][hapmap]
rs4988879	0.81[GIH][hapmap]
rs6862790	0.84[CHD][hapmap];0.96[YRI][hapmap]
rs735989	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs737002	0.91[CHB][hapmap];0.89[CHD][hapmap];0.87[ASN][1000 genomes]
rs7729095	0.83[CHB][hapmap];0.84[CHD][hapmap]
rs929989	0.91[CHB][hapmap];0.91[CHD][hapmap];0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2756469	chr5:94323268-94400017	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7730096	GPR150	cis	cerebellum	SCAN
rs7730096	GPR98	cis	cerebellum	SCAN
rs7730096	C5orf27	cis	parietal	SCAN
rs7730096	TTC37	cis	cerebellum	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94344200-94363400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:94349000-94377800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:94362200-94366400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr5:94362400-94363800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr5:94362400-94363800	Flanking Active TSS	GM12878-XiMat	blood
6	chr5:94362400-94364000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:94362800-94363600	Enhancers	Primary B cells from peripheral blood	blood
8	chr5:94362800-94363600	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr5:94362800-94363800	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr5:94362800-94363800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr5:94362800-94363800	Enhancers	Fetal Thymus	thymus
12	chr5:94362800-94363800	Enhancers	Thymus	Thymus
13	chr5:94362800-94363800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr5:94362800-94364000	Enhancers	Primary B cells from cord blood	blood
15	chr5:94362800-94364200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:94362800-94364200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:94362800-94364200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr5:94362800-94364400	Enhancers	Dnd41	blood
19	chr5:94362800-94369600	Enhancers	HUVEC	blood vessel
20	chr5:94363000-94363400	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr5:94363000-94363400	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr5:94363000-94363600	Enhancers	Brain Anterior Caudate	brain
23	chr5:94363000-94363600	Enhancers	Fetal Heart	heart
24	chr5:94363000-94363800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr5:94363000-94363800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr5:94363200-94363600	Enhancers	H1 Cell Line	embryonic stem cell
27	chr5:94363200-94363600	Enhancers	Fetal Muscle Leg	muscle
28	chr5:94363200-94363800	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr5:94363200-94364000	Enhancers	Osteobl	bone
30	chr5:94363200-94364200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:94363200-94364200	Enhancers	Adipose Nuclei	Adipose

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