Variant report

Variant	rs4885286
Chromosome Location	chr13:75933652-75933653
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1156831	1.00[ASN][1000 genomes]
rs1325466	0.90[EUR][1000 genomes]
rs1408930	0.85[EUR][1000 genomes]
rs2104418	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2328940	0.92[EUR][1000 genomes]
rs3825441	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs5021641	1.00[CEU][hapmap];0.96[GIH][hapmap];0.92[TSI][hapmap]
rs6562886	0.87[EUR][1000 genomes]
rs6562887	0.87[EUR][1000 genomes]
rs7330729	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7983831	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7992747	0.94[CEU][hapmap];0.96[EUR][1000 genomes]
rs7998651	0.94[CEU][hapmap];0.89[GIH][hapmap];0.92[TSI][hapmap];0.96[EUR][1000 genomes]
rs9565154	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9565157	0.96[EUR][1000 genomes]
rs9573529	0.91[EUR][1000 genomes]
rs9573531	0.94[CEU][hapmap];0.96[GIH][hapmap];0.92[TSI][hapmap];0.96[EUR][1000 genomes]
rs9573533	0.86[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498067	chr13:75178898-76012362	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4885286	EFCAB4A	trans	lymphoblastoid	seeQTL

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:75879200-75936000	Weak transcription	Gastric	stomach
2	chr13:75881800-75940000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr13:75900800-75936400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr13:75902600-75947000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr13:75905400-75940000	Weak transcription	Small Intestine	intestine
6	chr13:75910000-75936200	Weak transcription	Lung	lung
7	chr13:75910000-75937600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr13:75910200-75939400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:75910800-75936000	Weak transcription	Fetal Intestine Small	intestine
10	chr13:75910800-75947600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr13:75912000-75940800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr13:75916000-75936000	Weak transcription	Right Ventricle	heart
13	chr13:75916200-75935600	Weak transcription	Fetal Stomach	stomach
14	chr13:75916200-75936400	Weak transcription	Aorta	Aorta
15	chr13:75916200-75938200	Weak transcription	Esophagus	oesophagus
16	chr13:75923200-75933800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr13:75923600-75940200	Weak transcription	Liver	Liver
18	chr13:75928000-75941800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr13:75928400-75935000	Enhancers	NH-A	brain
20	chr13:75928400-75936000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr13:75928400-75939400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr13:75928600-75940200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr13:75928800-75936600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr13:75928800-75939000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr13:75929000-75937600	Weak transcription	Psoas Muscle	Psoas
26	chr13:75929400-75939600	Weak transcription	Hela-S3	cervix
27	chr13:75929600-75947600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr13:75929800-75934600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr13:75929800-75939800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr13:75930000-75934000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr13:75930200-75934000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr13:75930400-75935200	Enhancers	Osteobl	bone
33	chr13:75930400-75939400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr13:75930600-75939600	Weak transcription	Adipose Nuclei	Adipose
35	chr13:75931000-75935600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr13:75931600-75934800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr13:75931600-75936000	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr13:75931800-75934000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr13:75931800-75934600	Enhancers	HSMM	muscle
40	chr13:75931800-75934800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr13:75931800-75935400	Weak transcription	Fetal Muscle Leg	muscle
42	chr13:75932000-75934000	Enhancers	HMEC	breast
43	chr13:75932000-75934800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr13:75932000-75935000	Enhancers	NHDF-Ad	bronchial
45	chr13:75932000-75936000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr13:75932200-75934000	Enhancers	NHEK	skin
47	chr13:75932400-75935800	Weak transcription	Right Atrium	heart
48	chr13:75932400-75937600	Weak transcription	Pancreas	Pancrea
49	chr13:75932400-75944400	Weak transcription	Spleen	Spleen
50	chr13:75932600-75936000	Weak transcription	Fetal Heart	heart

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