Variant report

Variant	rs1326138
Chromosome Location	chr13:48515525-48515526
allele	C/T
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	chr13:48515405-48515525	ProgFib	skin:	n/a	n/a
2	FOS	chr13:48515500-48515535	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
SUCLA2	TF binding region

Extended variants
information (count: 142 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:141)

rs_ID	r²[population]
rs1041070	0.86[ASN][1000 genomes]
rs1098354	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11148099	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11148100	0.83[ASN][1000 genomes]
rs11618397	1.00[CEU][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1326135	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1326136	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1326139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1326140	1.00[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1536301	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1544078	0.91[ASN][1000 genomes]
rs17071168	0.82[ASN][1000 genomes]
rs1853929	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1886975	0.88[ASN][1000 genomes]
rs1886976	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1926089	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2031590	0.82[ASN][1000 genomes]
rs2094194	0.85[ASN][1000 genomes]
rs2148243	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2148244	0.87[ASN][1000 genomes]
rs2148245	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2182376	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2296574	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2406693	0.88[ASN][1000 genomes]
rs2406697	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2406698	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2406699	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4245347	0.87[ASN][1000 genomes]
rs4447314	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4522322	0.82[ASN][1000 genomes]
rs4941621	0.82[ASN][1000 genomes]
rs4942725	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4942727	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4942728	0.83[ASN][1000 genomes]
rs4942729	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4942735	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6561417	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6561419	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6561420	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6561424	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6561427	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6561430	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6561431	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6561432	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs718010	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7318770	0.82[ASN][1000 genomes]
rs7319245	0.82[ASN][1000 genomes]
rs7320366	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7320461	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7320759	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7321707	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs7322515	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7324541	0.83[AMR][1000 genomes]
rs7325189	0.80[ASN][1000 genomes]
rs7325437	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7326889	0.88[ASN][1000 genomes]
rs7326984	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7327730	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7328525	0.82[ASN][1000 genomes]
rs7328537	0.82[ASN][1000 genomes]
rs7329419	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7330130	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7330913	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7331285	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7332304	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7333659	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7333821	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7334207	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7335788	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7336972	0.89[ASN][1000 genomes]
rs7337004	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7337744	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7338125	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7338373	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7338894	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73487297	0.82[ASN][1000 genomes]
rs765809	1.00[CEU][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7985357	0.97[ASN][1000 genomes]
rs7989231	0.89[ASN][1000 genomes]
rs7990244	0.82[ASN][1000 genomes]
rs7990266	0.82[ASN][1000 genomes]
rs7990505	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7992167	1.00[CHB][hapmap]
rs7994359	0.90[ASN][1000 genomes]
rs7997802	0.82[ASN][1000 genomes]
rs7998116	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7998260	0.82[ASN][1000 genomes]
rs7998497	0.82[ASN][1000 genomes]
rs7998998	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7999505	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8000164	0.82[ASN][1000 genomes]
rs8001432	0.82[ASN][1000 genomes]
rs9316339	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9316343	0.82[ASN][1000 genomes]
rs9316344	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9526417	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9526422	0.87[ASN][1000 genomes]
rs9526423	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9526424	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9526426	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9526429	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9526430	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9526433	0.82[ASN][1000 genomes]
rs9526434	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9534876	0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs9534877	1.00[CEU][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9534878	1.00[CEU][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9534879	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9534880	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9534882	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9534885	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9534889	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9534892	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9534896	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9534897	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9534898	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9534901	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9534903	0.82[ASN][1000 genomes]
rs9534904	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9534905	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9534906	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9534907	0.82[ASN][1000 genomes]
rs9534908	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9534909	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9534912	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9534913	0.82[ASN][1000 genomes]
rs9534922	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9534926	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9534929	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9562787	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9567954	0.86[ASN][1000 genomes]
rs9567955	0.86[ASN][1000 genomes]
rs9567958	0.88[ASN][1000 genomes]
rs9567959	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9567960	1.00[CEU][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9567963	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9567964	0.87[ASN][1000 genomes]
rs9567972	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9567976	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9595815	0.85[ASN][1000 genomes]
rs9595825	1.00[CEU][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1326138	MED4	Cis_1M	lymphoblastoid	RTeQTL
rs1326138	SUCLA2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 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	chr13:48507800-48530600	Weak transcription	Brain Angular Gyrus	brain
9	chr13:48508000-48516200	Weak transcription	Brain Substantia Nigra	brain
10	chr13:48508000-48522400	Weak transcription	GM12878-XiMat	blood
11	chr13:48508000-48531400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr13:48508200-48515800	Weak transcription	Psoas Muscle	Psoas
13	chr13:48508200-48520000	Weak transcription	HepG2	liver
14	chr13:48508200-48529600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr13:48508600-48530800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr13:48508800-48522000	Weak transcription	NH-A	brain
17	chr13:48509000-48530800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr13:48509200-48528400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr13:48510800-48517400	Strong transcription	Primary T cells from cord blood	blood
20	chr13:48510800-48517400	Strong transcription	Left Ventricle	heart
21	chr13:48511000-48516400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr13:48511000-48517600	Strong transcription	Fetal Muscle Trunk	muscle
23	chr13:48511000-48530600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr13:48511000-48536600	Weak transcription	Esophagus	oesophagus
25	chr13:48511400-48516600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr13:48511800-48516600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr13:48511800-48518800	Strong transcription	Dnd41	blood
28	chr13:48511800-48531200	Weak transcription	HUVEC	blood vessel
29	chr13:48512000-48516800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr13:48512000-48517600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr13:48512200-48517600	Strong transcription	Adipose Nuclei	Adipose
32	chr13:48512200-48517600	Strong transcription	Fetal Thymus	thymus
33	chr13:48512200-48522400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr13:48512200-48530000	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr13:48512200-48530800	Weak transcription	Colonic Mucosa	Colon
36	chr13:48512200-48531200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr13:48512400-48515600	Strong transcription	Thymus	Thymus
38	chr13:48512400-48516400	Strong transcription	Fetal Muscle Leg	muscle
39	chr13:48512400-48516400	Strong transcription	NHEK	skin
40	chr13:48512600-48517600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
41	chr13:48512600-48518600	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr13:48512600-48521800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr13:48512600-48522200	Weak transcription	Brain Germinal Matrix	brain
44	chr13:48512600-48527000	Weak transcription	Pancreas	Pancrea
45	chr13:48512600-48529400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr13:48512600-48530800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr13:48512600-48531400	Weak transcription	Aorta	Aorta
48	chr13:48512600-48537600	Weak transcription	Hela-S3	cervix
49	chr13:48512800-48517600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr13:48512800-48518400	Strong transcription	HUES6 Cell Line	embryonic stem cell

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