Variant report

Variant	rs7327260
Chromosome Location	chr13:48595530-48595531
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs11148099	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11618397	0.81[EUR][1000 genomes]
rs1326135	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1326136	0.81[EUR][1000 genomes]
rs1536301	0.81[EUR][1000 genomes]
rs1886976	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1926089	0.81[EUR][1000 genomes]
rs1972347	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2148243	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2148245	0.81[EUR][1000 genomes]
rs2182376	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2296574	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2406697	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2406698	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2406699	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4447314	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4942725	0.81[EUR][1000 genomes]
rs4942729	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4942730	0.81[ASN][1000 genomes]
rs4942735	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61973260	0.85[ASN][1000 genomes]
rs6561417	0.81[EUR][1000 genomes]
rs6561419	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6561420	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6561424	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6561427	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6561430	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6561431	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6561432	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs718010	0.81[EUR][1000 genomes]
rs7320366	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7320461	0.81[EUR][1000 genomes]
rs7320759	0.81[EUR][1000 genomes]
rs7322515	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7325437	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7326984	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7327730	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7328549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7329419	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7330130	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7330913	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7331285	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7332304	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7333659	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7333821	0.81[EUR][1000 genomes]
rs7334207	0.81[EUR][1000 genomes]
rs7337004	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7337744	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7338125	0.81[EUR][1000 genomes]
rs7338373	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7338894	0.81[EUR][1000 genomes]
rs765809	0.81[EUR][1000 genomes]
rs7990244	0.83[AFR][1000 genomes]
rs7990266	0.83[AFR][1000 genomes]
rs7990505	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7998116	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7998998	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7999505	0.82[AFR][1000 genomes]
rs9316339	0.80[ASN][1000 genomes]
rs9316344	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9526423	0.81[EUR][1000 genomes]
rs9526424	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9526426	0.81[EUR][1000 genomes]
rs9526429	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9526430	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9526434	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9534878	0.81[EUR][1000 genomes]
rs9534879	0.80[EUR][1000 genomes]
rs9534882	0.81[EUR][1000 genomes]
rs9534885	0.81[EUR][1000 genomes]
rs9534889	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9534892	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9534898	0.84[ASN][1000 genomes]
rs9534901	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9534904	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9534905	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9534906	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9534908	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9534909	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9534912	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9534918	0.84[ASN][1000 genomes]
rs9534919	0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs9534922	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9534926	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9534929	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9562787	0.81[EUR][1000 genomes]
rs9567959	0.80[EUR][1000 genomes]
rs9567960	0.81[EUR][1000 genomes]
rs9567963	0.81[EUR][1000 genomes]
rs9567972	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9567976	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9595825	0.81[EUR][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	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
2	nsv832601	chr13:48569952-48735939	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers 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	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7327260	MED4	Cis_1M	lymphoblastoid	RTeQTL
rs7327260	SUCLA2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48576000-48603600	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr13:48576000-48604000	Weak transcription	Primary T cells from cord blood	blood
3	chr13:48576000-48604800	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr13:48576000-48604800	Weak transcription	Fetal Stomach	stomach
5	chr13:48576000-48604800	Weak transcription	Thymus	Thymus
6	chr13:48576000-48610800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr13:48576000-48611400	Weak transcription	Left Ventricle	heart
8	chr13:48576400-48605000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr13:48576600-48604800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr13:48576600-48604800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr13:48576600-48604800	Weak transcription	Dnd41	blood
12	chr13:48576600-48610200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr13:48583800-48604600	Weak transcription	Liver	Liver
14	chr13:48584000-48604600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr13:48584000-48610800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr13:48584200-48604800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr13:48584200-48611200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr13:48584400-48604600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr13:48584800-48604800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:48586000-48603800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr13:48587400-48604000	Weak transcription	Primary B cells from cord blood	blood
22	chr13:48588000-48603800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr13:48588600-48605800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr13:48588800-48605200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr13:48589000-48604800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr13:48589200-48605200	Weak transcription	Fetal Intestine Large	intestine
27	chr13:48592400-48604800	Weak transcription	Fetal Intestine Small	intestine

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