Variant report

Variant	rs2182785
Chromosome Location	chr13:48702568-48702569
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:48701521..48703483-chr13:48708256..48709963,2	K562	blood:

Variant related genes	Relation type
ENSG00000224510	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs1104351	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12869161	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12874522	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1326133	0.89[EUR][1000 genomes]
rs1326137	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1327656	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1359616	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1410116	0.96[EUR][1000 genomes]
rs1752129	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1886977	0.89[EUR][1000 genomes]
rs1927214	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1998988	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1998989	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2025864	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2094190	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2094193	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2094195	0.85[EUR][1000 genomes]
rs2148939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2148940	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2182373	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2182378	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2406694	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2406796	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2406798	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2765077	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3862747	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3990876	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4427704	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4941618	0.89[EUR][1000 genomes]
rs4941620	0.85[EUR][1000 genomes]
rs4941624	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4942720	0.83[EUR][1000 genomes]
rs4942721	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4942723	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4942724	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4942732	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4942734	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4942736	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4942740	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4942746	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61973264	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61973265	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61973266	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61973307	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61973308	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61974562	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61974563	0.89[EUR][1000 genomes]
rs61974564	0.89[EUR][1000 genomes]
rs61974579	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6561414	0.85[EUR][1000 genomes]
rs6561416	0.89[EUR][1000 genomes]
rs6561421	0.89[EUR][1000 genomes]
rs6561425	0.89[EUR][1000 genomes]
rs6561426	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6561438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7317685	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7323702	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7323821	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7324368	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7325175	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7326381	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7326418	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7329137	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7329266	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7329615	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7332363	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7332994	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7335797	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7336170	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73481288	0.96[ASN][1000 genomes]
rs73483108	0.96[ASN][1000 genomes]
rs73483122	0.96[ASN][1000 genomes]
rs7985469	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7990099	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7990541	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7991892	0.89[EUR][1000 genomes]
rs7996051	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7996581	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7998786	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7999270	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8001032	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8001509	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8002482	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8002847	0.83[EUR][1000 genomes]
rs840428	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs840429	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs840432	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs840435	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs840437	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs840439	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9316350	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9316351	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs943066	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs943067	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9526419	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9526431	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9526441	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9526448	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9526450	1.00[ASN][1000 genomes]
rs9526454	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526455	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9534884	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9534956	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9534959	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9534966	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9562792	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9567988	0.96[AMR][1000 genomes];0.87[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	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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2182785	MED4	cis	multi-tissue	Pritchard
rs2182785	MED4	Cis_1M	lymphoblastoid	RTeQTL
rs2182785	SUCLA2	cis	multi-tissue	Pritchard

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48700400-48705600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:48701600-48704000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr13:48701800-48705000	Weak transcription	HMEC	breast
4	chr13:48701800-48705800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr13:48701800-48725800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr13:48702000-48702800	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr13:48702000-48703200	Weak transcription	Primary T cells from cord blood	blood
8	chr13:48702000-48703200	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr13:48702000-48703200	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr13:48702000-48703200	Weak transcription	Fetal Thymus	thymus
11	chr13:48702000-48703200	Weak transcription	Dnd41	blood
12	chr13:48702000-48703400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr13:48702000-48704800	Weak transcription	Primary B cells from peripheral blood	blood
14	chr13:48702000-48705200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr13:48702000-48705200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr13:48702000-48705200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr13:48702000-48705200	Weak transcription	NHEK	skin
18	chr13:48702000-48705600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr13:48702200-48703200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr13:48702200-48703400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr13:48702200-48703600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr13:48702200-48704800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr13:48702200-48705600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr13:48702200-48705600	Weak transcription	HepG2	liver
25	chr13:48702200-48713800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr13:48702400-48702600	Enhancers	Brain Hippocampus Middle	brain

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