Variant report

Variant	rs4885636
Chromosome Location	chr13:80074769-80074770
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 152 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:149)

rs_ID	r²[population]
rs1208049	0.87[ASN][1000 genomes]
rs1212082	0.87[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12865187	0.82[JPT][hapmap]
rs12871015	0.82[JPT][hapmap]
rs12877507	0.82[JPT][hapmap]
rs1324868	0.82[JPT][hapmap]
rs1335368	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1335370	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1408049	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1408658	0.82[JPT][hapmap]
rs1409018	0.82[JPT][hapmap]
rs1410336	0.82[JPT][hapmap]
rs1414155	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1414156	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1475797	0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1577416	0.88[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1577418	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1748761	0.88[JPT][hapmap]
rs1748768	0.81[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	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2181433	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[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[ASN][1000 genomes]
rs2476173	0.91[ASN][1000 genomes]
rs2484343	0.91[ASN][1000 genomes]
rs2484344	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2760101	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2760102	0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2760103	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2760105	0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2760106	1.00[CEU][hapmap];1.00[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];0.98[ASN][1000 genomes]
rs2763809	0.88[JPT][hapmap]
rs2763810	0.88[JPT][hapmap]
rs2783119	0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2783120	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2783121	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]
rs2783122	1.00[CEU][hapmap];1.00[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]
rs2783125	0.82[ASN][1000 genomes]
rs2783126	0.82[ASN][1000 genomes]
rs2783127	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2876740	0.88[JPT][hapmap]
rs314687	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs314688	0.83[ASN][1000 genomes]
rs314689	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3187338	0.82[JPT][hapmap]
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]
rs3818563	0.82[JPT][hapmap]
rs386603	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3903388	0.82[JPT][hapmap]
rs4145207	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4146473	0.82[JPT][hapmap]
rs4476060	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4885633	0.86[ASN][1000 genomes]
rs4885634	0.82[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs643778	0.88[JPT][hapmap]
rs6563098	0.82[JPT][hapmap]
rs6563100	0.82[JPT][hapmap]
rs6563104	0.82[JPT][hapmap]
rs6563110	0.92[ASN][1000 genomes]
rs6563113	0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6563115	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6563116	0.92[ASN][1000 genomes]
rs700396	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7317343	0.82[JPT][hapmap]
rs7317416	0.82[JPT][hapmap]
rs7319252	0.82[JPT][hapmap]
rs7319320	0.82[JPT][hapmap]
rs7321953	0.94[ASN][1000 genomes]
rs7322167	0.82[JPT][hapmap]
rs7322673	0.82[JPT][hapmap]
rs73235963	0.91[ASN][1000 genomes]
rs7325095	0.82[ASN][1000 genomes]
rs7327386	0.82[JPT][hapmap]
rs7327603	0.82[JPT][hapmap]
rs7328494	0.94[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	0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7339303	0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7981067	0.82[JPT][hapmap]
rs7982263	0.93[ASN][1000 genomes]
rs7987193	0.88[JPT][hapmap]
rs7987769	0.82[JPT][hapmap]
rs7988601	0.92[ASN][1000 genomes]
rs7988784	0.82[JPT][hapmap]
rs7990250	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs7990344	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7996493	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7996652	0.82[JPT][hapmap]
rs7998837	0.82[JPT][hapmap]
rs8001281	0.88[JPT][hapmap]
rs8002042	0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs912639	0.88[JPT][hapmap]
rs9318621	0.82[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	0.94[ASN][1000 genomes]
rs9530899	0.80[JPT][hapmap]
rs9530901	0.82[JPT][hapmap]
rs9530913	0.82[JPT][hapmap]
rs9530914	0.82[JPT][hapmap]
rs9530922	0.86[ASN][1000 genomes]
rs9530925	0.94[ASN][1000 genomes]
rs9545065	0.82[JPT][hapmap]
rs9545067	0.82[JPT][hapmap]
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	0.80[ASN][1000 genomes]
rs9565486	0.82[JPT][hapmap]
rs9565489	0.82[JPT][hapmap]
rs9565497	0.88[JPT][hapmap]
rs9565510	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9574409	0.82[JPT][hapmap]
rs9574416	0.82[JPT][hapmap]
rs9574422	0.88[JPT][hapmap]
rs9574429	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9574434	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9593396	0.82[JPT][hapmap]
rs9593399	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9601240	0.91[ASN][1000 genomes]
rs9601242	0.91[ASN][1000 genomes]
rs987284	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][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	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
2	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
3	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
rs4885636	RBM26	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80056200-80077400	Weak transcription	Right Ventricle	heart
2	chr13:80059000-80077200	Weak transcription	Small Intestine	intestine
3	chr13:80060000-80075600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr13:80062000-80075800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr13:80063400-80077200	Weak transcription	K562	blood
6	chr13:80064800-80084800	Weak transcription	Fetal Intestine Small	intestine
7	chr13:80066800-80084000	Weak transcription	Pancreas	Pancrea
8	chr13:80066800-80122800	Weak transcription	Esophagus	oesophagus
9	chr13:80067200-80095000	Weak transcription	HSMM	muscle
10	chr13:80067400-80079400	Weak transcription	Brain Hippocampus Middle	brain
11	chr13:80067600-80077400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr13:80067800-80076000	Weak transcription	Fetal Heart	heart
13	chr13:80068800-80077200	Weak transcription	Liver	Liver
14	chr13:80069000-80077400	Weak transcription	Brain Angular Gyrus	brain
15	chr13:80070600-80096600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr13:80071600-80075200	Weak transcription	Hela-S3	cervix
17	chr13:80071600-80075600	Weak transcription	HMEC	breast
18	chr13:80071600-80077000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr13:80071600-80079200	Weak transcription	Gastric	stomach
20	chr13:80072200-80074800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr13:80072200-80075000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr13:80072200-80075400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr13:80072200-80075800	Weak transcription	Left Ventricle	heart
24	chr13:80072200-80076400	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr13:80072200-80076600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr13:80072200-80077200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr13:80072200-80077200	Weak transcription	Right Atrium	heart
28	chr13:80072200-80079400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr13:80073200-80075800	Weak transcription	Stomach Mucosa	stomach
30	chr13:80074000-80075400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr13:80074000-80078400	Enhancers	Dnd41	blood
32	chr13:80074200-80076000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr13:80074200-80077200	Weak transcription	Psoas Muscle	Psoas
34	chr13:80074400-80080600	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr13:80074600-80075800	Enhancers	NHEK	skin

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