Variant report

Variant	rs1335370
Chromosome Location	chr13:80062766-80062767
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:80060446..80062114-chr13:80062702..80064410,2	K562	blood:
2	chr13:80062237..80065016-chr13:80076512..80078758,2	K562	blood:
3	chr13:80053858..80056756-chr13:80060556..80063243,3	MCF-7	breast:
4	chr13:80062181..80064765-chr13:80069081..80070994,2	K562	blood:
5	chr13:80061240..80063310-chr13:80064486..80066624,3	K562	blood:
6	chr13:80054213..80059626-chr13:80061919..80068879,9	K562	blood:
7	chr13:80056153..80058862-chr13:80062367..80066425,4	K562	blood:

Variant related genes	Relation type
ENSG00000102471	Chromatin interaction
ENSG00000232132	Chromatin interaction

Extended variants
information (count: 149 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:147)

rs_ID	r²[population]
rs1208049	0.86[ASN][1000 genomes]
rs1212082	0.87[CHB][hapmap];1.00[JPT][hapmap];0.89[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];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[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];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1408658	0.82[JPT][hapmap]
rs1409018	0.82[JPT][hapmap]
rs1410336	0.82[JPT][hapmap]
rs1414155	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1414156	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1475797	0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1577416	0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1577418	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2181433	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[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]
rs2476173	0.89[ASN][1000 genomes]
rs2484343	0.89[ASN][1000 genomes]
rs2484344	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2760101	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2760102	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2760103	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2760105	0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2760106	1.00[CEU][hapmap];1.00[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];0.97[ASN][1000 genomes]
rs2763809	0.88[JPT][hapmap]
rs2763810	0.88[JPT][hapmap]
rs2783119	0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2783120	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2783121	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]
rs2783122	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2783125	0.81[ASN][1000 genomes]
rs2783126	0.81[ASN][1000 genomes]
rs2783127	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2876740	0.88[JPT][hapmap]
rs314687	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs314688	0.85[ASN][1000 genomes]
rs314689	0.94[AFR][1000 genomes];0.87[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	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3903388	0.82[JPT][hapmap]
rs4145207	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4146473	0.82[JPT][hapmap]
rs4476060	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4885633	0.88[ASN][1000 genomes]
rs4885634	0.82[CHB][hapmap];0.93[JPT][hapmap];0.96[ASN][1000 genomes]
rs4885636	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]
rs643778	0.88[JPT][hapmap]
rs6563098	0.82[JPT][hapmap]
rs6563100	0.82[JPT][hapmap]
rs6563104	0.82[JPT][hapmap]
rs6563110	0.94[ASN][1000 genomes]
rs6563113	0.88[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6563115	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6563116	0.91[ASN][1000 genomes]
rs700396	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7317343	0.82[JPT][hapmap]
rs7317416	0.82[JPT][hapmap]
rs7319252	0.82[JPT][hapmap]
rs7319320	0.82[JPT][hapmap]
rs7321953	0.92[ASN][1000 genomes]
rs7322167	0.82[JPT][hapmap]
rs7322673	0.82[JPT][hapmap]
rs73235963	0.89[ASN][1000 genomes]
rs7325095	0.84[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	0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7339303	0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7981067	0.82[JPT][hapmap]
rs7982263	0.95[ASN][1000 genomes]
rs7987193	0.88[JPT][hapmap]
rs7987769	0.82[JPT][hapmap]
rs7988601	0.94[ASN][1000 genomes]
rs7988784	0.82[JPT][hapmap]
rs7990250	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs7990344	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7996493	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[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];0.96[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	0.92[ASN][1000 genomes]
rs9530899	0.80[JPT][hapmap]
rs9530901	0.82[JPT][hapmap]
rs9530913	0.82[JPT][hapmap]
rs9530914	0.82[JPT][hapmap]
rs9530922	0.88[ASN][1000 genomes]
rs9530925	0.96[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]
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];0.96[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	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9574434	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9593396	0.82[JPT][hapmap]
rs9593399	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9601240	0.89[ASN][1000 genomes]
rs9601242	0.89[ASN][1000 genomes]
rs987284	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1335370	RBM26	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80056200-80063200	Weak transcription	Left Ventricle	heart
2	chr13:80056200-80066400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:80056200-80066600	Weak transcription	Psoas Muscle	Psoas
4	chr13:80056200-80077400	Weak transcription	Right Ventricle	heart
5	chr13:80056600-80064200	Weak transcription	Placenta	Placenta
6	chr13:80056800-80064000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr13:80056800-80064400	Weak transcription	Fetal Stomach	stomach
8	chr13:80056800-80065800	Weak transcription	Fetal Muscle Leg	muscle
9	chr13:80057000-80063600	Weak transcription	Right Atrium	heart
10	chr13:80057000-80066200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr13:80057400-80063400	Weak transcription	GM12878-XiMat	blood
12	chr13:80057400-80064600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr13:80057600-80065400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr13:80057600-80065600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr13:80057800-80064600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr13:80057800-80064600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr13:80058000-80065400	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr13:80058600-80065800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr13:80059000-80077200	Weak transcription	Small Intestine	intestine
20	chr13:80059400-80064800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr13:80059400-80066400	Weak transcription	Fetal Thymus	thymus
22	chr13:80059600-80063200	Weak transcription	Brain Hippocampus Middle	brain
23	chr13:80059600-80063200	Weak transcription	Pancreas	Pancrea
24	chr13:80059600-80064200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr13:80059600-80064200	Weak transcription	Esophagus	oesophagus
26	chr13:80059600-80064200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr13:80059600-80064600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr13:80059600-80064600	Weak transcription	Colon Smooth Muscle	Colon
29	chr13:80059600-80066200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr13:80059600-80066600	Weak transcription	Brain Angular Gyrus	brain
31	chr13:80059600-80068800	Weak transcription	Brain Substantia Nigra	brain
32	chr13:80059800-80063000	Weak transcription	K562	blood
33	chr13:80059800-80064200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr13:80059800-80064400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr13:80059800-80064400	Weak transcription	Fetal Lung	lung
36	chr13:80059800-80065400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr13:80059800-80065800	Weak transcription	Brain Anterior Caudate	brain
38	chr13:80060000-80063400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr13:80060000-80063600	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr13:80060000-80065400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr13:80060000-80065400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr13:80060000-80075600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr13:80060200-80064200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr13:80060200-80064400	Weak transcription	NHLF	lung
45	chr13:80060200-80064600	Weak transcription	HSMMtube	muscle
46	chr13:80060200-80064600	Weak transcription	NH-A	brain
47	chr13:80060200-80065000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr13:80060200-80065000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr13:80060200-80065600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr13:80060800-80064600	Weak transcription	HepG2	liver

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