Variant report

Variant	rs2897769
Chromosome Location	chr13:50286522-50286523
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50279309..50282316-chr13:50283856..50287335,3	K562	blood:
2	chr13:50284596..50287038-chr13:50289146..50291818,2	K562	blood:

Variant related genes	Relation type
ENSG00000102753	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1009334	0.87[EUR][1000 genomes]
rs1198314	0.87[EUR][1000 genomes]
rs1198316	0.87[EUR][1000 genomes]
rs1198318	0.87[EUR][1000 genomes]
rs1198326	0.87[EUR][1000 genomes]
rs1198331	0.82[EUR][1000 genomes]
rs1923661	0.87[EUR][1000 genomes]
rs1967761	0.84[EUR][1000 genomes]
rs2407701	0.82[EUR][1000 genomes]
rs3903769	0.84[EUR][1000 genomes]
rs6561564	0.87[EUR][1000 genomes]
rs716371	0.84[EUR][1000 genomes]
rs7317456	0.92[ASN][1000 genomes]
rs7337524	0.97[ASN][1000 genomes]
rs7994774	0.84[EUR][1000 genomes]
rs8000298	0.87[EUR][1000 genomes]
rs8000321	0.87[EUR][1000 genomes]
rs9562920	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9562923	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9562924	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9568298	0.80[ASN][1000 genomes]
rs9568308	0.90[ASN][1000 genomes]
rs9568314	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9568315	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568319	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9568320	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9568327	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9568328	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9568331	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9568332	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs957475	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9591301	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9596178	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9596179	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9596190	0.92[AMR][1000 genomes];0.92[EUR][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	nsv916093	chr13:50050919-50290245	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv900072	chr13:50266109-50381016	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv900073	chr13:50286218-50381016	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2897769	EBPL	cis	Artery Tibial	GTEx
rs2897769	EBPL	cis	Thyroid	GTEx
rs2897769	EBPL	cis	Skin Sun Exposed Lower leg	GTEx
rs2897769	EBPL	cis	Nerve Tibial	GTEx
rs2897769	EBPL	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50266200-50289400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr13:50266200-50289600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr13:50266200-50295200	Weak transcription	Spleen	Spleen
4	chr13:50266200-50296000	Weak transcription	K562	blood
5	chr13:50266200-50298600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr13:50266200-50298800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr13:50266200-50307800	Weak transcription	Gastric	stomach
8	chr13:50266200-50316000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr13:50266400-50289400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr13:50266400-50293600	Weak transcription	Colonic Mucosa	Colon
11	chr13:50266400-50295800	Weak transcription	Small Intestine	intestine
12	chr13:50266400-50349000	Weak transcription	Esophagus	oesophagus
13	chr13:50267200-50289400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr13:50271400-50286800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:50272400-50295000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr13:50272400-50296000	Weak transcription	Fetal Heart	heart
17	chr13:50273200-50326000	Weak transcription	Aorta	Aorta
18	chr13:50273200-50333800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr13:50274000-50286600	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr13:50275800-50289200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr13:50275800-50290000	Weak transcription	Brain Substantia Nigra	brain
22	chr13:50276000-50288400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr13:50276000-50289600	Weak transcription	Fetal Brain Male	brain
24	chr13:50276000-50289600	Weak transcription	Fetal Brain Female	brain
25	chr13:50276000-50291800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr13:50276000-50299800	Weak transcription	Right Ventricle	heart
27	chr13:50276000-50307600	Weak transcription	Pancreas	Pancrea
28	chr13:50276200-50288600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr13:50277000-50318400	Weak transcription	Hela-S3	cervix
30	chr13:50278800-50286600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr13:50279200-50286800	Strong transcription	Fetal Thymus	thymus
32	chr13:50279800-50289200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr13:50280000-50308000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr13:50280200-50295200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr13:50280400-50288600	Weak transcription	Brain Anterior Caudate	brain
36	chr13:50280400-50289400	Weak transcription	Fetal Kidney	kidney
37	chr13:50280400-50289600	Weak transcription	Brain Angular Gyrus	brain
38	chr13:50280400-50290200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr13:50280400-50291600	Weak transcription	HMEC	breast
40	chr13:50280600-50295800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr13:50280600-50296000	Weak transcription	Colon Smooth Muscle	Colon
42	chr13:50281800-50290200	Strong transcription	HSMM	muscle
43	chr13:50282000-50289600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr13:50282800-50289600	Weak transcription	Brain Germinal Matrix	brain
45	chr13:50283000-50289600	Weak transcription	Fetal Lung	lung
46	chr13:50283000-50296000	Weak transcription	HSMMtube	muscle
47	chr13:50283400-50294600	Weak transcription	Lung	lung
48	chr13:50283800-50289600	Weak transcription	NHEK	skin
49	chr13:50284000-50289600	Weak transcription	Osteobl	bone
50	chr13:50284000-50293000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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