Variant report

Variant	rs2760911
Chromosome Location	chr13:50690082-50690083
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:50655147..50657898-chr13:50688877..50690738,2	K562	blood:
2	chr13:50671088..50673566-chr13:50688986..50691858,2	K562	blood:
3	chr13:50679351..50682085-chr13:50688250..50690548,2	K562	blood:

Variant related genes	Relation type
ENSG00000214359	Chromatin interaction
ENSG00000176124	Chromatin interaction
ENSG00000231607	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1323450	1.00[ASW][hapmap];0.92[CEU][hapmap];0.98[GIH][hapmap];0.82[LWK][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1622458	0.93[EUR][1000 genomes]
rs2066544	0.82[AFR][1000 genomes]
rs2066557	0.83[YRI][hapmap]
rs2066581	0.96[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2066593	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.98[TSI][hapmap];0.82[YRI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2066600	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2066603	0.84[EUR][1000 genomes]
rs2740509	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2812203	0.93[ASN][1000 genomes]
rs706610	0.82[CEU][hapmap]
rs7318151	0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9316482	0.92[CEU][hapmap];0.91[YRI][hapmap]
rs9535407	0.83[YRI][hapmap]
rs9535411	1.00[ASW][hapmap];0.92[CEU][hapmap];0.98[GIH][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap]
rs9535414	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9535416	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9740075	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv832608	chr13:50678628-50888413	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv1041501	chr13:50683189-50795195	Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2760911	C13orf1	cis	cerebellum	SCAN
rs2760911	DLEU1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50658000-50697200	Weak transcription	HSMMtube	muscle
2	chr13:50659800-50697200	Weak transcription	Hela-S3	cervix
3	chr13:50673000-50695600	Weak transcription	Fetal Intestine Large	intestine
4	chr13:50673600-50690400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr13:50673800-50693800	Weak transcription	K562	blood
6	chr13:50673800-50697600	Weak transcription	HSMM	muscle
7	chr13:50674000-50693800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr13:50674000-50695000	Weak transcription	Fetal Muscle Leg	muscle
9	chr13:50674000-50695400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr13:50674000-50695600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr13:50674000-50697200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr13:50674000-50697600	Weak transcription	Esophagus	oesophagus
13	chr13:50674200-50695400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr13:50674600-50695400	Weak transcription	Fetal Intestine Small	intestine
15	chr13:50676800-50695800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr13:50679200-50697200	Weak transcription	NH-A	brain
17	chr13:50679400-50691000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr13:50681400-50693800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr13:50681400-50697200	Weak transcription	Fetal Kidney	kidney
20	chr13:50681800-50691000	Weak transcription	Osteobl	bone
21	chr13:50682000-50692000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr13:50682000-50694600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr13:50682000-50697200	Weak transcription	NHDF-Ad	bronchial
24	chr13:50682200-50690600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr13:50682200-50692200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr13:50682200-50696600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr13:50682800-50698000	Weak transcription	Ovary	ovary
28	chr13:50684800-50693600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr13:50685200-50695400	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr13:50685400-50690600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr13:50688200-50691000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr13:50688400-50690200	Enhancers	Fetal Heart	heart
33	chr13:50688400-50690400	Weak transcription	Primary B cells from cord blood	blood
34	chr13:50688400-50690600	Enhancers	Brain Substantia Nigra	brain
35	chr13:50688600-50690200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr13:50688600-50690200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
37	chr13:50688600-50690800	Enhancers	Small Intestine	intestine
38	chr13:50688800-50691400	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr13:50689000-50690200	Genic enhancers	Primary B cells from peripheral blood	blood
40	chr13:50689000-50690200	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr13:50689000-50690600	Weak transcription	Primary T cells from cord blood	blood
42	chr13:50689000-50691000	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr13:50689000-50693800	Weak transcription	HepG2	liver
44	chr13:50689000-50697200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr13:50689200-50690200	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr13:50689200-50690200	Genic enhancers	Thymus	Thymus
47	chr13:50689200-50690600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr13:50689200-50690600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr13:50689200-50691000	Enhancers	Adipose Nuclei	Adipose
50	chr13:50689200-50691600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links