Variant report

Variant	rs10454965
Chromosome Location	chr5:167219268-167219269
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10070839	0.95[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs11134468	1.00[ASW][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes]
rs11134471	1.00[ASW][hapmap]
rs11750131	0.81[CHD][hapmap]
rs11949355	0.84[EUR][1000 genomes]
rs11956673	0.86[EUR][1000 genomes]
rs12516791	0.86[EUR][1000 genomes]
rs12520082	1.00[ASW][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes]
rs12657288	0.84[ASN][1000 genomes]
rs13436455	0.84[JPT][hapmap]
rs1364369	0.95[CHB][hapmap];0.86[CHD][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs1459073	1.00[ASW][hapmap]
rs17068860	1.00[ASW][hapmap]
rs17069129	0.86[EUR][1000 genomes]
rs2336972	0.87[ASN][1000 genomes]
rs2973664	0.90[CHB][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs4624810	0.84[JPT][hapmap]
rs4869068	0.86[EUR][1000 genomes]
rs4869072	0.86[EUR][1000 genomes]
rs58347375	0.86[EUR][1000 genomes]
rs6879227	0.84[JPT][hapmap]
rs6880746	0.95[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs72832005	0.84[EUR][1000 genomes]
rs72832012	0.81[EUR][1000 genomes]
rs72832022	0.86[EUR][1000 genomes]
rs72835612	0.84[AMR][1000 genomes]
rs7703401	0.84[CHB][hapmap]
rs7703715	0.86[EUR][1000 genomes]
rs7708656	0.86[EUR][1000 genomes]
rs7714651	0.81[TSI][hapmap]
rs7730435	0.86[EUR][1000 genomes]
rs7737681	0.85[EUR][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	nsv932627	chr5:166744408-167290959	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1027805	chr5:167082800-167285008	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv3440684	chr5:167217724-167219572	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10454965	MBL1P	trans	cerebellum	SCAN
rs10454965	WWC1	cis	parietal	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167210800-167225000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:167214600-167219800	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr5:167217600-167221200	Weak transcription	Brain Anterior Caudate	brain
4	chr5:167218000-167220200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:167218000-167229600	Weak transcription	HSMM	muscle
6	chr5:167218200-167221400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr5:167218200-167225000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:167218600-167220200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:167218600-167220800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:167218800-167219400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr5:167218800-167219600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:167218800-167220200	Enhancers	H9 Cell Line	embryonic stem cell
13	chr5:167218800-167220600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:167218800-167221800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr5:167219000-167219400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr5:167219000-167219800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr5:167219000-167220000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:167219000-167220200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:167219000-167220200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr5:167219000-167220400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr5:167219000-167220400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr5:167219000-167220400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr5:167219000-167220400	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr5:167219000-167223200	Weak transcription	Osteobl	bone
25	chr5:167219200-167219400	Enhancers	Pancreas	Pancrea
26	chr5:167219200-167219600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:167219200-167219600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr5:167219200-167219600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr5:167219200-167219800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:167219200-167219800	Enhancers	NH-A	brain
31	chr5:167219200-167220000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr5:167219200-167220200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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