Variant report

Variant	rs2783121
Chromosome Location	chr13:80103229-80103230
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 136 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:134)

rs_ID	r²[population]
rs1208049	0.90[ASN][1000 genomes]
rs1212082	0.80[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12871015	0.82[JPT][hapmap]
rs12877507	0.82[JPT][hapmap]
rs1324868	0.82[JPT][hapmap]
rs1335368	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1335370	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1408049	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1408658	0.82[JPT][hapmap]
rs1410336	0.82[JPT][hapmap]
rs1414155	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1414156	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1475797	0.81[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1577416	0.81[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1577418	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1748761	0.88[JPT][hapmap]
rs1752648	0.82[JPT][hapmap]
rs1752649	0.82[JPT][hapmap]
rs1853830	0.88[JPT][hapmap]
rs2025913	0.82[JPT][hapmap]
rs2057573	0.82[JPT][hapmap]
rs2065743	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2181433	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2182009	0.82[JPT][hapmap]
rs2182010	0.82[JPT][hapmap]
rs2182873	0.82[JPT][hapmap]
rs2265377	0.93[JPT][hapmap]
rs2265378	0.88[JPT][hapmap]
rs2274555	0.82[JPT][hapmap]
rs2476172	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2476173	0.93[ASN][1000 genomes]
rs2484343	0.93[ASN][1000 genomes]
rs2484344	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2760101	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2760102	0.81[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2760103	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2760105	0.81[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2760106	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2763809	0.88[JPT][hapmap]
rs2763810	0.88[JPT][hapmap]
rs2783119	0.81[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2783120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2783122	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2783125	0.85[ASN][1000 genomes]
rs2783126	0.85[ASN][1000 genomes]
rs2783127	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2876740	0.88[JPT][hapmap]
rs314687	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs314689	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs3742117	0.81[JPT][hapmap]
rs3742118	0.82[JPT][hapmap]
rs3742119	0.82[JPT][hapmap]
rs3742122	0.82[JPT][hapmap]
rs3752994	0.82[JPT][hapmap]
rs386603	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3903388	0.82[JPT][hapmap]
rs4145207	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4146473	0.82[JPT][hapmap]
rs4476060	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4885633	0.82[ASN][1000 genomes]
rs4885634	0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs4885636	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs643778	0.88[JPT][hapmap]
rs6563100	0.82[JPT][hapmap]
rs6563104	0.82[JPT][hapmap]
rs6563110	0.88[ASN][1000 genomes]
rs6563113	0.81[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6563115	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6563116	0.93[ASN][1000 genomes]
rs700396	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7319252	0.82[JPT][hapmap]
rs7319320	0.82[JPT][hapmap]
rs7321953	0.93[ASN][1000 genomes]
rs7322673	0.82[JPT][hapmap]
rs73235963	0.93[ASN][1000 genomes]
rs7327386	0.82[JPT][hapmap]
rs7327603	0.82[JPT][hapmap]
rs7328494	0.93[JPT][hapmap]
rs7329331	0.82[JPT][hapmap]
rs7331872	0.82[JPT][hapmap]
rs7332367	0.82[JPT][hapmap]
rs7332913	0.82[JPT][hapmap]
rs7336581	0.82[JPT][hapmap]
rs7338530	0.81[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7339303	0.81[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7981067	0.82[JPT][hapmap]
rs7982263	0.89[ASN][1000 genomes]
rs7987193	0.88[JPT][hapmap]
rs7987769	0.82[JPT][hapmap]
rs7988601	0.88[ASN][1000 genomes]
rs7988784	0.82[JPT][hapmap]
rs7990250	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs7990344	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7996493	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7996652	0.82[JPT][hapmap]
rs7998837	0.82[JPT][hapmap]
rs8001281	0.88[JPT][hapmap]
rs8002042	0.81[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs912639	0.88[JPT][hapmap]
rs9318623	0.81[JPT][hapmap]
rs9318625	0.82[JPT][hapmap]
rs9318626	0.82[JPT][hapmap]
rs9318627	0.82[JPT][hapmap]
rs9318634	0.82[JPT][hapmap]
rs9318640	0.87[JPT][hapmap]
rs9318641	0.87[JPT][hapmap]
rs9318644	0.93[ASN][1000 genomes]
rs9530899	0.80[JPT][hapmap]
rs9530901	0.82[JPT][hapmap]
rs9530913	0.82[JPT][hapmap]
rs9530914	0.82[JPT][hapmap]
rs9530922	0.82[ASN][1000 genomes]
rs9530925	0.90[ASN][1000 genomes]
rs9545076	0.82[JPT][hapmap]
rs9545083	0.82[JPT][hapmap]
rs9545085	0.82[JPT][hapmap]
rs9545086	0.82[JPT][hapmap]
rs9545087	0.82[JPT][hapmap]
rs9545097	0.87[JPT][hapmap]
rs9545101	0.82[JPT][hapmap]
rs9545142	0.82[ASN][1000 genomes]
rs9565489	0.82[JPT][hapmap]
rs9565497	0.88[JPT][hapmap]
rs9565510	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9574409	0.82[JPT][hapmap]
rs9574416	0.82[JPT][hapmap]
rs9574422	0.88[JPT][hapmap]
rs9574429	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9574434	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9593396	0.82[JPT][hapmap]
rs9593399	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9601240	0.93[ASN][1000 genomes]
rs9601242	0.93[ASN][1000 genomes]
rs987284	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[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	nsv523979	chr13:79979679-80120263	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv916983	chr13:80065879-80249702	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2783121	RBM26	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80066800-80122800	Weak transcription	Esophagus	oesophagus
2	chr13:80082800-80108000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr13:80083000-80120000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:80083000-80122800	Weak transcription	Stomach Mucosa	stomach
5	chr13:80087400-80134000	Weak transcription	Aorta	Aorta
6	chr13:80087400-80134600	Weak transcription	Pancreas	Pancrea
7	chr13:80089400-80118400	Weak transcription	Small Intestine	intestine
8	chr13:80090600-80112000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr13:80090800-80103400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr13:80091400-80108000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr13:80092200-80109400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr13:80093000-80110200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr13:80093400-80104200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr13:80093400-80112800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr13:80093600-80108200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr13:80093800-80104400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr13:80093800-80109800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr13:80095600-80104200	Weak transcription	Fetal Brain Female	brain
19	chr13:80095600-80108000	Weak transcription	NHDF-Ad	bronchial
20	chr13:80095600-80109000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr13:80095600-80109000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr13:80097000-80108000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr13:80097000-80109200	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr13:80097000-80110400	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr13:80097000-80112400	Weak transcription	Thymus	Thymus
26	chr13:80097200-80104400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr13:80097200-80104600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr13:80097200-80108600	Weak transcription	HSMMtube	muscle
29	chr13:80097200-80112400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr13:80097200-80122800	Weak transcription	Fetal Lung	lung
31	chr13:80097400-80106600	Genic enhancers	Dnd41	blood
32	chr13:80097400-80108600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr13:80097400-80121800	Weak transcription	Lung	lung
34	chr13:80097800-80110800	Weak transcription	Fetal Intestine Small	intestine
35	chr13:80098000-80112600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr13:80098200-80111000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr13:80098400-80114200	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr13:80098400-80123200	Weak transcription	Fetal Kidney	kidney
39	chr13:80098600-80107800	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr13:80098600-80108200	Weak transcription	Ovary	ovary
41	chr13:80098600-80135000	Weak transcription	Placenta	Placenta
42	chr13:80098800-80109800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr13:80099200-80104200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr13:80099400-80103400	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr13:80099400-80105200	Weak transcription	Brain Anterior Caudate	brain
46	chr13:80099400-80108200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr13:80099400-80112000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr13:80099400-80115600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr13:80099400-80133200	Weak transcription	Psoas Muscle	Psoas
50	chr13:80099600-80105600	Weak transcription	Fetal Thymus	thymus

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