Variant report

Variant	rs943066
Chromosome Location	chr13:48615435-48615436
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	GATA2	chr13:48615343-48615583	HUVEC	blood vessel:	n/a	n/a
2	FOS	chr13:48615033-48615697	HUVEC	blood vessel:	n/a	chr13:48615202-48615213

No.	Distal block	Cell Line	Cell type
1	chr13:48614408..48616060-chr13:48806634..48809108,2	K562	blood:
2	chr13:48614818..48616446-chr13:48622273..48624246,2	K562	blood:
3	chr13:48612252..48613991-chr13:48614134..48616270,2	MCF-7	breast:
4	chr13:48615412..48618304-chr13:48618924..48621110,2	K562	blood:

Variant related genes	Relation type
SUCLA2	TF binding region
ENSG00000136156	Chromatin interaction

Extended variants
information (count: 112 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs1104351	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11840968	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11841315	0.82[EUR][1000 genomes]
rs12869161	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12874522	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1326133	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1326137	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1327656	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1359616	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1410116	0.94[EUR][1000 genomes]
rs1752129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1886977	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927214	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1998988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1998989	0.89[EUR][1000 genomes]
rs2025864	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2094190	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2094193	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2094195	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2104481	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2148939	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2148940	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182373	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182378	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182785	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2406694	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2406796	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2406798	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2765077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3862747	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4427704	0.86[EUR][1000 genomes]
rs4941618	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4941620	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4941624	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4942720	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4942721	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4942723	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4942724	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4942732	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4942734	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4942736	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4942740	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4942746	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61972210	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61972223	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61972227	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61973264	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61973265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61973266	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61973307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61973308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61974562	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61974563	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61974564	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61974579	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561414	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561416	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561421	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561425	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561426	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561438	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7317685	0.83[AMR][1000 genomes]
rs7323702	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7323821	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7324368	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7325175	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7326381	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7326418	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7329137	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7329266	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7329615	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7332363	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7332994	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7334801	0.90[EUR][1000 genomes]
rs7335797	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7336170	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7985469	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7990099	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7990541	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7991892	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7996051	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7996581	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7998786	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7999270	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8001032	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8001509	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8002482	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8002847	0.93[EUR][1000 genomes]
rs840428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs840429	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs840432	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs840435	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs840437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs840439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9316340	1.00[ASN][1000 genomes]
rs9316350	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9316351	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943067	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526419	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526431	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526441	0.94[EUR][1000 genomes]
rs9526448	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526454	0.83[AMR][1000 genomes]
rs9526455	0.83[AMR][1000 genomes]
rs9534884	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9534956	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9534959	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9534966	0.83[AMR][1000 genomes]
rs9562792	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9567988	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs943066	SUCLA2	cis	multi-tissue	Pritchard
rs943066	MED4	cis	multi-tissue	Pritchard
rs943066	MED4	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48612400-48625000	Weak transcription	Spleen	Spleen
2	chr13:48612600-48616000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr13:48612600-48616000	Weak transcription	Left Ventricle	heart
4	chr13:48612600-48616000	Weak transcription	Lung	lung
5	chr13:48612600-48623000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:48612600-48624200	Weak transcription	Gastric	stomach
7	chr13:48612600-48624800	Weak transcription	Ovary	ovary
8	chr13:48612600-48631600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:48612600-48640400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr13:48612600-48645000	Weak transcription	Stomach Mucosa	stomach
11	chr13:48612800-48616000	Weak transcription	Aorta	Aorta
12	chr13:48612800-48616000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr13:48612800-48620800	Weak transcription	Primary B cells from cord blood	blood
14	chr13:48612800-48622000	Weak transcription	Brain Germinal Matrix	brain
15	chr13:48612800-48622000	Weak transcription	Placenta	Placenta
16	chr13:48612800-48622200	Weak transcription	Fetal Brain Female	brain
17	chr13:48612800-48622400	Weak transcription	Brain Substantia Nigra	brain
18	chr13:48612800-48624600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr13:48612800-48624800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr13:48612800-48625000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr13:48612800-48628000	Weak transcription	Fetal Brain Male	brain
22	chr13:48612800-48640200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr13:48612800-48640400	Weak transcription	Psoas Muscle	Psoas
24	chr13:48613000-48617600	Weak transcription	HSMMtube	muscle
25	chr13:48613000-48621800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr13:48613000-48622200	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr13:48613000-48640200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr13:48613000-48640400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr13:48613200-48615600	Weak transcription	Primary T cells from cord blood	blood
30	chr13:48613200-48615600	Weak transcription	NH-A	brain
31	chr13:48613200-48615800	Weak transcription	HSMM	muscle
32	chr13:48613200-48617400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr13:48613200-48624800	Weak transcription	Primary B cells from peripheral blood	blood
34	chr13:48613200-48624800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr13:48613200-48626600	Weak transcription	Right Ventricle	heart
36	chr13:48613200-48629000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr13:48613200-48631800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr13:48613200-48640400	Weak transcription	Fetal Heart	heart
39	chr13:48613200-48641600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr13:48613200-48642200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr13:48613400-48615600	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr13:48613400-48616000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr13:48613400-48617400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr13:48613400-48617600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr13:48613400-48618200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr13:48613400-48624800	Weak transcription	Brain Anterior Caudate	brain
47	chr13:48613400-48625800	Weak transcription	K562	blood
48	chr13:48613400-48641600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr13:48613400-48647000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr13:48613600-48617600	Weak transcription	Colonic Mucosa	Colon

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