Variant report

Variant	rs9547713
Chromosome Location	chr13:37562211-37562212
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:37560675..37562585-chr13:37574399..37576736,2	K562	blood:
2	chr13:37557592..37563683-chr13:37571842..37575220,9	MCF-7	breast:
3	chr13:37559855..37563377-chr13:37569856..37572688,4	K562	blood:
4	chr13:37555502..37557441-chr13:37560771..37563958,3	K562	blood:

Variant related genes	Relation type
ENSG00000120699	Chromatin interaction
ENSG00000120697	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11147624	0.86[JPT][hapmap]
rs11147625	0.86[JPT][hapmap]
rs11147626	0.86[JPT][hapmap]
rs11147627	0.86[JPT][hapmap]
rs1127446	0.91[ASN][1000 genomes]
rs2078022	0.94[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2243710	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2323396	0.86[JPT][hapmap]
rs3818380	0.81[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3852618	0.86[JPT][hapmap]
rs3852619	0.91[JPT][hapmap]
rs3864999	0.86[JPT][hapmap]
rs4054546	0.89[JPT][hapmap]
rs4943438	0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4943439	0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4943440	0.94[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7321774	0.82[YRI][hapmap]
rs7336575	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7989745	0.87[ASN][1000 genomes]
rs8000946	0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9315455	0.96[CEU][hapmap];0.84[CHB][hapmap];0.82[CHD][hapmap];0.86[JPT][hapmap];0.84[MKK][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes]
rs9469	0.94[CHB][hapmap];0.88[CHD][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs9531997	0.81[EUR][1000 genomes]
rs9532003	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs954370	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs9547708	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9547709	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9547711	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9566172	0.94[ASN][1000 genomes]
rs9566177	0.86[JPT][hapmap]
rs9566178	0.84[JPT][hapmap]
rs9576145	0.92[ASN][1000 genomes]
rs9576146	0.98[ASN][1000 genomes]
rs9576147	0.99[ASN][1000 genomes]
rs9576149	0.97[ASN][1000 genomes]
rs9576150	0.99[ASN][1000 genomes]
rs9576151	0.94[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9576156	0.94[CHB][hapmap];0.88[CHD][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs9576161	0.88[CHB][hapmap]
rs9576167	0.94[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap]
rs9576176	0.86[JPT][hapmap]
rs9576177	0.86[JPT][hapmap]
rs9576178	0.86[JPT][hapmap]
rs9576181	0.86[JPT][hapmap]
rs9603126	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.98[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][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	nsv948975	chr13:37281203-38280430	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv522336	chr13:37305641-37584838	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs9547713	ALG5	Cis_1M	lymphoblastoid	RTeQTL
rs9547713	ALG5	cis	parietal	SCAN
rs9547713	FAM48A	Cis_1M	lymphoblastoid	RTeQTL
rs9547713	EXOSC8	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:37524000-37563800	Weak transcription	Psoas Muscle	Psoas
2	chr13:37524600-37572400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr13:37531800-37570000	Strong transcription	Dnd41	blood
4	chr13:37539400-37562400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr13:37539600-37562400	Weak transcription	Fetal Brain Male	brain
6	chr13:37547400-37570000	Strong transcription	Fetal Thymus	thymus
7	chr13:37547800-37570200	Strong transcription	Primary T helper cells PMA-I stimulated	--
8	chr13:37549000-37569400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr13:37550000-37563800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr13:37550000-37565400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr13:37550400-37570200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr13:37550600-37570400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:37551600-37565000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:37552200-37570000	Strong transcription	Fetal Muscle Trunk	muscle
15	chr13:37552400-37570000	Strong transcription	Primary T cells from cord blood	blood
16	chr13:37552600-37570200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr13:37553200-37569600	Strong transcription	Placenta	Placenta
18	chr13:37553200-37569800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr13:37553200-37570000	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr13:37554200-37569800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr13:37554400-37569400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr13:37554600-37569800	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr13:37555200-37570200	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr13:37555200-37571200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr13:37555600-37569200	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr13:37555600-37570200	Strong transcription	Liver	Liver
27	chr13:37555600-37570200	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr13:37555600-37570400	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr13:37555600-37570400	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr13:37555800-37567200	Weak transcription	Stomach Mucosa	stomach
31	chr13:37555800-37569400	Strong transcription	Adipose Nuclei	Adipose
32	chr13:37555800-37570000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr13:37555800-37570200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr13:37556000-37566600	Strong transcription	Fetal Muscle Leg	muscle
35	chr13:37556200-37569200	Strong transcription	Brain Hippocampus Middle	brain
36	chr13:37556200-37569600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr13:37556200-37569600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr13:37556200-37569800	Strong transcription	Primary B cells from peripheral blood	blood
39	chr13:37556200-37569800	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr13:37556200-37570200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr13:37556400-37563200	Strong transcription	Colon Smooth Muscle	Colon
42	chr13:37556400-37569600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr13:37556400-37569600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr13:37556400-37569600	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr13:37556400-37569600	Strong transcription	Fetal Lung	lung
46	chr13:37556400-37570000	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr13:37556400-37570200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr13:37556400-37570200	Strong transcription	HSMM	muscle
49	chr13:37556400-37570400	Strong transcription	Primary B cells from cord blood	blood
50	chr13:37556400-37570400	Strong transcription	Duodenum Mucosa	Duodenum

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