Variant report

Variant	rs9591124
Chromosome Location	chr13:48513891-48513892
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr13:48513702-48514147	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
SUCLA2	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10220099	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13378425	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2406701	0.90[EUR][1000 genomes]
rs28628659	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28794608	0.90[EUR][1000 genomes]
rs4496017	0.88[EUR][1000 genomes]
rs55845516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6561423	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7317676	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7319779	0.90[EUR][1000 genomes]
rs840431	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs840434	1.00[CEU][hapmap]
rs9316341	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9591118	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9591119	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9591120	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9591121	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9591122	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9591125	0.90[EUR][1000 genomes]
rs9591126	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9591128	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9595805	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9595806	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9595808	0.86[AFR][1000 genomes]
rs9595809	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9595810	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9595811	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9595814	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9595816	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9595819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9595826	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9595827	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9595828	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9595830	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9595831	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9595832	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9595833	0.81[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9591124	SUCLA2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48501000-48531200	Weak transcription	Spleen	Spleen
2	chr13:48502000-48530800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:48503800-48516800	Weak transcription	NHDF-Ad	bronchial
4	chr13:48506000-48531400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr13:48506800-48522600	Weak transcription	Fetal Brain Male	brain
6	chr13:48507200-48524000	Weak transcription	Lung	lung
7	chr13:48507200-48548800	Weak transcription	Stomach Mucosa	stomach
8	chr13:48507800-48515200	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr13:48507800-48515200	Weak transcription	Osteobl	bone
10	chr13:48507800-48530600	Weak transcription	Brain Angular Gyrus	brain
11	chr13:48508000-48514000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr13:48508000-48514200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr13:48508000-48514200	Weak transcription	Fetal Stomach	stomach
14	chr13:48508000-48515200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr13:48508000-48515200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr13:48508000-48515400	Weak transcription	Fetal Kidney	kidney
17	chr13:48508000-48516200	Weak transcription	Brain Substantia Nigra	brain
18	chr13:48508000-48522400	Weak transcription	GM12878-XiMat	blood
19	chr13:48508000-48531400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr13:48508200-48515400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr13:48508200-48515800	Weak transcription	Psoas Muscle	Psoas
22	chr13:48508200-48520000	Weak transcription	HepG2	liver
23	chr13:48508200-48529600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr13:48508400-48515200	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr13:48508600-48515400	Weak transcription	Brain Hippocampus Middle	brain
26	chr13:48508600-48530800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr13:48508800-48514200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr13:48508800-48515200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr13:48508800-48522000	Weak transcription	NH-A	brain
30	chr13:48509000-48515200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr13:48509000-48530800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr13:48509200-48514000	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr13:48509200-48514200	Weak transcription	HSMMtube	muscle
34	chr13:48509200-48528400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr13:48509400-48515200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr13:48510200-48515400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr13:48510600-48514000	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr13:48510600-48514000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr13:48510600-48515400	Weak transcription	Colon Smooth Muscle	Colon
40	chr13:48510800-48517400	Strong transcription	Primary T cells from cord blood	blood
41	chr13:48510800-48517400	Strong transcription	Left Ventricle	heart
42	chr13:48511000-48514200	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr13:48511000-48515200	Weak transcription	Right Ventricle	heart
44	chr13:48511000-48515400	Weak transcription	Fetal Heart	heart
45	chr13:48511000-48515400	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr13:48511000-48516400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr13:48511000-48517600	Strong transcription	Fetal Muscle Trunk	muscle
48	chr13:48511000-48530600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr13:48511000-48536600	Weak transcription	Esophagus	oesophagus
50	chr13:48511400-48516600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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