Variant report

Variant	rs11617894
Chromosome Location	chr13:48541168-48541169
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10397	0.88[EUR][1000 genomes]
rs12561235	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13243	0.88[EUR][1000 genomes]
rs2025703	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4477588	0.82[EUR][1000 genomes]
rs56097393	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56385117	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7324919	0.86[EUR][1000 genomes]
rs7326861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7335662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7981492	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9562784	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9562785	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9562786	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9562790	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9562791	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9562794	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9562795	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9562797	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9562798	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9567956	0.85[EUR][1000 genomes]
rs9567957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9567966	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9567967	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9567970	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9567971	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9567975	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9567977	0.88[EUR][1000 genomes]
rs9567978	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9634678	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[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	nsv933980	chr13:48431000-48557419	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv430556	chr13:48516799-48679099	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11617894	SUCLA2	cis	Muscle Skeletal	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48507200-48548800	Weak transcription	Stomach Mucosa	stomach
2	chr13:48514400-48574000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr13:48523000-48541600	Weak transcription	Psoas Muscle	Psoas
4	chr13:48523000-48542600	Weak transcription	K562	blood
5	chr13:48528000-48545800	Weak transcription	Colon Smooth Muscle	Colon
6	chr13:48530000-48541200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr13:48532000-48551400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr13:48532200-48565200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr13:48532400-48546000	Weak transcription	Aorta	Aorta
10	chr13:48532400-48559400	Weak transcription	Gastric	stomach
11	chr13:48532400-48565200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr13:48532600-48545800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr13:48532800-48545800	Weak transcription	Brain Substantia Nigra	brain
14	chr13:48533800-48548000	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr13:48534000-48541200	Strong transcription	Fetal Thymus	thymus
16	chr13:48534000-48543000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr13:48534000-48560800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr13:48534200-48541400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr13:48534200-48541600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr13:48534200-48542800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr13:48534200-48542800	Strong transcription	Adipose Nuclei	Adipose
22	chr13:48534200-48543000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr13:48534200-48545200	Weak transcription	Spleen	Spleen
24	chr13:48534200-48545800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr13:48534200-48573200	Weak transcription	Brain Angular Gyrus	brain
26	chr13:48534400-48541400	Strong transcription	Fetal Muscle Leg	muscle
27	chr13:48534400-48543200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr13:48534400-48544400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr13:48534400-48574400	Weak transcription	Small Intestine	intestine
30	chr13:48534600-48546000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr13:48534600-48550400	Weak transcription	Right Ventricle	heart
32	chr13:48535000-48564800	Weak transcription	NHLF	lung
33	chr13:48535200-48545000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr13:48535200-48552000	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr13:48536000-48550400	Weak transcription	Fetal Heart	heart
36	chr13:48536200-48541200	Strong transcription	Fetal Intestine Large	intestine
37	chr13:48536200-48542800	Strong transcription	Primary B cells from peripheral blood	blood
38	chr13:48536200-48550000	Weak transcription	NHEK	skin
39	chr13:48536400-48543000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr13:48536600-48542800	Strong transcription	HSMM	muscle
41	chr13:48536800-48547800	Strong transcription	Liver	Liver
42	chr13:48537000-48542800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr13:48537200-48541600	Weak transcription	Esophagus	oesophagus
44	chr13:48537200-48541800	Weak transcription	HMEC	breast
45	chr13:48537200-48543000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr13:48537200-48544800	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr13:48537200-48574200	Weak transcription	Colonic Mucosa	Colon
48	chr13:48537400-48542000	Strong transcription	Fetal Intestine Small	intestine
49	chr13:48537400-48543400	Strong transcription	Osteobl	bone
50	chr13:48537400-48545400	Weak transcription	Pancreas	Pancrea

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