Variant report

Variant	rs9535414
Chromosome Location	chr13:50614599-50614600
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:50614102..50617084-chr13:50617972..50620154,3	K562	blood:
2	chr13:50610763..50613611-chr13:50614019..50617692,5	K562	blood:
3	chr13:50574749..50577107-chr13:50612941..50615310,2	MCF-7	breast:
4	chr13:50614553..50617467-chr13:50655058..50657570,3	K562	blood:
5	chr13:50612697..50615209-chr13:50621560..50623359,2	K562	blood:

Variant related genes	Relation type
ENSG00000208006	Chromatin interaction
ENSG00000231607	Chromatin interaction
ENSG00000176124	Chromatin interaction
ENSG00000204977	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11839292	0.82[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs12876820	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1323450	0.92[CEU][hapmap];0.86[LWK][hapmap];0.90[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1622458	0.85[EUR][1000 genomes]
rs2066544	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2066557	0.83[YRI][hapmap]
rs2066581	0.96[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2066593	1.00[CEU][hapmap];0.82[YRI][hapmap];0.91[EUR][1000 genomes]
rs2066600	0.86[EUR][1000 genomes]
rs2407884	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2740509	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2760911	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6561570	0.85[AFR][1000 genomes]
rs706610	0.82[CEU][hapmap]
rs7318151	1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9316482	0.92[CEU][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9316484	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs9526629	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9535403	0.87[ASN][1000 genomes]
rs9535407	0.83[YRI][hapmap]
rs9535410	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9535411	0.92[CEU][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9535415	0.87[ASN][1000 genomes]
rs9535416	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9568354	0.83[YRI][hapmap]
rs9740075	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1054415	chr13:50598121-50650938	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1202 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9535414	DLEU1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50578600-50629800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr13:50578800-50654400	Weak transcription	Esophagus	oesophagus
3	chr13:50586800-50654200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:50587000-50633800	Weak transcription	Hela-S3	cervix
5	chr13:50587000-50645600	Weak transcription	Spleen	Spleen
6	chr13:50587200-50617000	Weak transcription	HepG2	liver
7	chr13:50588000-50645600	Weak transcription	Ovary	ovary
8	chr13:50589800-50645600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr13:50590000-50624200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr13:50590200-50653600	Weak transcription	Small Intestine	intestine
11	chr13:50593000-50618600	Weak transcription	HMEC	breast
12	chr13:50594600-50622600	Weak transcription	A549	lung
13	chr13:50594600-50635000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr13:50594800-50616400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr13:50594800-50641000	Weak transcription	Lung	lung
16	chr13:50594800-50643200	Weak transcription	Brain Hippocampus Middle	brain
17	chr13:50594800-50643600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr13:50595000-50615600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr13:50595000-50617200	Weak transcription	Fetal Heart	heart
20	chr13:50595000-50654200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr13:50595200-50640000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr13:50595800-50616000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr13:50595800-50616200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr13:50595800-50654400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr13:50596400-50620400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr13:50596800-50615600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr13:50597000-50624600	Weak transcription	Fetal Lung	lung
28	chr13:50598200-50616200	Weak transcription	Fetal Muscle Leg	muscle
29	chr13:50598200-50629800	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr13:50598200-50634800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr13:50598200-50641000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr13:50598400-50616800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr13:50598600-50626000	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr13:50598600-50627800	Weak transcription	Brain Germinal Matrix	brain
35	chr13:50598600-50640000	Weak transcription	Placenta	Placenta
36	chr13:50598600-50650200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr13:50598800-50616000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr13:50598800-50616200	Weak transcription	Fetal Muscle Trunk	muscle
39	chr13:50599200-50616200	Weak transcription	Brain Angular Gyrus	brain
40	chr13:50599800-50615800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr13:50600800-50616000	Weak transcription	Thymus	Thymus
42	chr13:50601400-50616600	Weak transcription	Fetal Intestine Large	intestine
43	chr13:50601600-50616200	Weak transcription	Adipose Nuclei	Adipose
44	chr13:50601600-50616600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr13:50601600-50616800	Weak transcription	Primary T cells from cord blood	blood
46	chr13:50601600-50617000	Weak transcription	HUVEC	blood vessel
47	chr13:50601600-50626200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr13:50601600-50641000	Weak transcription	Left Ventricle	heart
49	chr13:50602000-50618600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr13:50603400-50616600	Weak transcription	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links