Variant report

Variant	rs9593396
Chromosome Location	chr13:79970299-79970300
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 187 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:186)

rs_ID	r²[population]
rs1022891	0.88[CHD][hapmap];0.88[JPT][hapmap];0.84[MEX][hapmap];0.81[ASN][1000 genomes]
rs11620233	0.86[ASN][1000 genomes]
rs1212082	0.85[CEU][hapmap];0.80[CHB][hapmap];0.89[GIH][hapmap];0.81[JPT][hapmap];0.81[MEX][hapmap]
rs12865187	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12871015	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap]
rs12877507	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1324868	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1335368	0.82[JPT][hapmap]
rs1335370	0.82[JPT][hapmap]
rs1408049	0.82[JPT][hapmap]
rs1408658	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1409018	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1410336	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1475797	0.92[CEU][hapmap];0.81[CHB][hapmap];0.87[GIH][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap]
rs1577416	0.92[CEU][hapmap];0.81[CHB][hapmap];0.82[JPT][hapmap]
rs1577418	0.82[JPT][hapmap]
rs1590465	0.97[ASN][1000 genomes]
rs1619669	0.94[ASN][1000 genomes]
rs1624537	0.95[ASN][1000 genomes]
rs1748761	1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs1748762	0.94[ASN][1000 genomes]
rs1748763	0.94[ASN][1000 genomes]
rs1748768	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1748769	0.95[ASN][1000 genomes]
rs1749982	0.94[ASN][1000 genomes]
rs1752648	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1752649	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1853830	1.00[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs1886494	0.97[ASN][1000 genomes]
rs1980764	0.94[ASN][1000 genomes]
rs2025913	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2031815	0.98[ASN][1000 genomes]
rs2057573	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap]
rs2095477	0.92[ASN][1000 genomes]
rs2147568	0.95[ASN][1000 genomes]
rs2182009	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2182010	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2182873	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2265377	0.81[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs2265378	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.95[ASN][1000 genomes]
rs2265381	0.95[ASN][1000 genomes]
rs2265382	0.95[ASN][1000 genomes]
rs2274555	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2296287	0.94[ASN][1000 genomes]
rs2477395	0.95[ASN][1000 genomes]
rs2477397	0.95[ASN][1000 genomes]
rs2484345	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2760102	0.92[CEU][hapmap];0.81[CHB][hapmap];0.82[JPT][hapmap]
rs2760105	0.88[CEU][hapmap];0.81[CHB][hapmap];0.82[JPT][hapmap]
rs2760106	0.82[JPT][hapmap]
rs2763809	1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs2763810	1.00[CHB][hapmap];0.88[CHD][hapmap];0.94[JPT][hapmap];0.81[MEX][hapmap];0.96[ASN][1000 genomes]
rs2765078	0.95[ASN][1000 genomes]
rs2783119	0.92[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap]
rs2783121	0.82[JPT][hapmap]
rs2783122	0.82[JPT][hapmap]
rs2876740	1.00[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];0.81[MEX][hapmap];0.95[ASN][1000 genomes]
rs314688	0.86[AMR][1000 genomes]
rs314689	0.84[ASN][1000 genomes]
rs314690	0.88[ASN][1000 genomes]
rs314692	0.95[ASN][1000 genomes]
rs314693	0.95[ASN][1000 genomes]
rs314694	0.95[ASN][1000 genomes]
rs314695	0.94[ASN][1000 genomes]
rs3187338	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap]
rs35476664	0.94[ASN][1000 genomes]
rs3742117	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs3742118	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3742119	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap]
rs3742120	0.99[ASN][1000 genomes]
rs3742122	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs3752994	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3764150	0.91[ASN][1000 genomes]
rs3818563	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap]
rs3903388	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4146473	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.87[ASN][1000 genomes]
rs416660	0.95[ASN][1000 genomes]
rs418150	0.95[ASN][1000 genomes]
rs4605023	0.97[ASN][1000 genomes]
rs4885633	0.82[AMR][1000 genomes]
rs4885634	0.89[CEU][hapmap];0.81[AMR][1000 genomes]
rs4885636	0.82[JPT][hapmap]
rs57821487	0.98[ASN][1000 genomes]
rs586219	0.95[ASN][1000 genomes]
rs643778	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6563098	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap]
rs6563100	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.96[ASN][1000 genomes]
rs6563104	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6563110	0.84[CEU][hapmap];0.82[AMR][1000 genomes]
rs6563113	0.92[CEU][hapmap];0.81[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes]
rs7317343	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7317416	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7319252	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7319320	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7321186	0.97[ASN][1000 genomes]
rs7322167	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7322673	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7322901	0.97[ASN][1000 genomes]
rs7323246	0.98[ASN][1000 genomes]
rs7325095	0.82[AMR][1000 genomes]
rs7327386	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7327603	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs7328494	1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs7329331	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.98[ASN][1000 genomes]
rs7330479	0.98[ASN][1000 genomes]
rs7331525	0.94[ASN][1000 genomes]
rs7331766	0.98[ASN][1000 genomes]
rs7331867	0.89[ASN][1000 genomes]
rs7331872	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7332367	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap]
rs7332913	0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap]
rs7336186	0.97[ASN][1000 genomes]
rs7336581	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7336939	0.88[ASN][1000 genomes]
rs7336979	0.94[ASN][1000 genomes]
rs7338530	0.91[CEU][hapmap];0.81[CHB][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs7338678	0.91[ASN][1000 genomes]
rs7339303	0.92[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap]
rs7981067	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap]
rs7981500	0.98[ASN][1000 genomes]
rs7986306	0.91[ASN][1000 genomes]
rs7987193	1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs7987769	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7988601	0.82[AMR][1000 genomes]
rs7988784	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7990321	0.95[ASN][1000 genomes]
rs7996652	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7998837	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8001281	1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs8001308	0.86[ASN][1000 genomes]
rs8001392	0.87[ASN][1000 genomes]
rs8001622	0.95[ASN][1000 genomes]
rs8001795	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs8002042	0.92[CEU][hapmap];0.81[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes]
rs8002838	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs912639	1.00[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];0.81[MEX][hapmap];0.95[ASN][1000 genomes]
rs9318621	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9318623	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9318625	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9318626	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap]
rs9318627	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap]
rs9318634	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap]
rs9318638	0.95[ASN][1000 genomes]
rs9318640	1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs9318641	1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs9530899	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9530901	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap]
rs9530913	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9530914	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9530915	0.99[ASN][1000 genomes]
rs9530917	0.95[ASN][1000 genomes]
rs9530920	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9530922	0.82[AMR][1000 genomes]
rs9530925	0.81[AMR][1000 genomes]
rs9545065	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9545066	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9545067	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs9545076	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap]
rs9545083	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9545085	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9545086	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9545087	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9545097	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9545101	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9545104	0.98[ASN][1000 genomes]
rs9545106	0.98[ASN][1000 genomes]
rs9545108	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9545109	0.95[ASN][1000 genomes]
rs9545113	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9545114	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9565486	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9565489	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9565496	0.97[ASN][1000 genomes]
rs9565497	1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs9565500	0.94[ASN][1000 genomes]
rs9565510	0.81[JPT][hapmap]
rs9574409	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs9574416	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9574418	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9574419	0.97[ASN][1000 genomes]
rs9574420	0.97[ASN][1000 genomes]
rs9574422	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9574434	0.82[JPT][hapmap]
rs9601226	0.97[ASN][1000 genomes]
rs9601227	0.95[ASN][1000 genomes]
rs987284	0.82[JPT][hapmap]

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	nsv832657	chr13:79904978-80099108	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9593396	RBM26	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:79951200-79979200	Weak transcription	Esophagus	oesophagus
2	chr13:79951800-79978200	Weak transcription	Aorta	Aorta
3	chr13:79952600-79977800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr13:79958600-79971000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr13:79958800-79971000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr13:79958800-79977800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr13:79960600-79975600	Weak transcription	Ovary	ovary
8	chr13:79960800-79971400	Weak transcription	NHLF	lung
9	chr13:79962800-79973000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr13:79962800-79974400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr13:79967600-79972000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
12	chr13:79967800-79970400	Strong transcription	HSMM	muscle
13	chr13:79967800-79971000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:79968000-79970600	Weak transcription	NHDF-Ad	bronchial
15	chr13:79968000-79972800	Weak transcription	NHEK	skin
16	chr13:79968000-79973000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr13:79968000-79975200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr13:79968000-79975800	Weak transcription	HMEC	breast
19	chr13:79968000-79976600	Weak transcription	Right Ventricle	heart
20	chr13:79968000-79977800	Weak transcription	Gastric	stomach
21	chr13:79968200-79972800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr13:79968200-79973400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr13:79968200-79974400	Weak transcription	Brain Angular Gyrus	brain
24	chr13:79968200-79974600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr13:79968200-79975600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr13:79968400-79971000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr13:79968400-79971800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr13:79968400-79972800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr13:79968400-79975800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr13:79968400-79977200	Weak transcription	Right Atrium	heart
31	chr13:79968400-79979200	Weak transcription	Lung	lung
32	chr13:79968600-79970800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr13:79968600-79973000	Weak transcription	Adipose Nuclei	Adipose
34	chr13:79968600-79973000	Weak transcription	Liver	Liver
35	chr13:79968600-79973000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr13:79968600-79975600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr13:79968600-79976600	Weak transcription	Colon Smooth Muscle	Colon
38	chr13:79968600-79977800	Weak transcription	Spleen	Spleen
39	chr13:79968600-79978600	Weak transcription	Placenta	Placenta
40	chr13:79968600-79978600	Weak transcription	Pancreas	Pancrea
41	chr13:79968600-79979200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr13:79968800-79970800	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr13:79968800-79971800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr13:79968800-79974600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr13:79969000-79971200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr13:79969000-79971600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
47	chr13:79969000-79971600	ZNF genes & repeats	Fetal Intestine Large	intestine
48	chr13:79969000-79972000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr13:79969000-79972400	ZNF genes & repeats	GM12878-XiMat	blood
50	chr13:79969000-79973200	Weak transcription	Small Intestine	intestine

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