Variant report

Variant	rs9567987
Chromosome Location	chr13:48632272-48632273
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11616639	0.85[ASN][1000 genomes]
rs1410117	0.92[ASN][1000 genomes]
rs1571256	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1927213	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2094192	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2104480	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2148246	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2148938	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2406709	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2406797	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4294712	0.91[ASN][1000 genomes]
rs4941623	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4942748	0.95[ASN][1000 genomes]
rs56399021	0.94[ASN][1000 genomes]
rs7324484	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7326363	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7333247	0.83[ASN][1000 genomes]
rs7336214	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8001243	0.97[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9526442	0.91[ASN][1000 genomes]
rs9526443	0.91[ASN][1000 genomes]
rs9526445	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9526446	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9526447	0.92[ASN][1000 genomes]
rs9526449	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9526451	0.89[ASN][1000 genomes]
rs9534931	0.86[ASN][1000 genomes]
rs9534932	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9534933	0.93[ASN][1000 genomes]
rs9534937	0.94[ASN][1000 genomes]
rs9534939	0.94[ASN][1000 genomes]
rs9534943	0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9534944	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9534945	0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9534946	0.93[ASN][1000 genomes]
rs9534947	0.93[ASN][1000 genomes]
rs9534948	0.93[ASN][1000 genomes]
rs9534949	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9534950	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9534951	0.89[ASN][1000 genomes]
rs9534952	0.91[ASN][1000 genomes]
rs9534957	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9534961	0.83[ASN][1000 genomes]
rs9562802	0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9567991	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9567994	0.95[ASN][1000 genomes]
rs9568000	0.85[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9567987	MED4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48612600-48640400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:48612600-48645000	Weak transcription	Stomach Mucosa	stomach
3	chr13:48612800-48640200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr13:48612800-48640400	Weak transcription	Psoas Muscle	Psoas
5	chr13:48613000-48640200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr13:48613000-48640400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr13:48613200-48640400	Weak transcription	Fetal Heart	heart
8	chr13:48613200-48641600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr13:48613200-48642200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr13:48613400-48641600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr13:48613400-48647000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr13:48613600-48636400	Weak transcription	Hela-S3	cervix
13	chr13:48613600-48645000	Weak transcription	Small Intestine	intestine
14	chr13:48614400-48636400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr13:48616400-48642800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr13:48618800-48644800	Weak transcription	Colonic Mucosa	Colon
17	chr13:48623200-48640200	Weak transcription	Colon Smooth Muscle	Colon
18	chr13:48623200-48652200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr13:48625600-48636400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr13:48625600-48640200	Weak transcription	Fetal Kidney	kidney
21	chr13:48625600-48640200	Weak transcription	A549	lung
22	chr13:48625800-48637200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr13:48625800-48640400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr13:48626000-48640200	Weak transcription	HUVEC	blood vessel
25	chr13:48627200-48639400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr13:48627200-48640200	Weak transcription	NH-A	brain
27	chr13:48627200-48640400	Weak transcription	K562	blood
28	chr13:48627400-48634200	Weak transcription	Right Ventricle	heart
29	chr13:48627400-48636800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr13:48627400-48637200	Weak transcription	Fetal Thymus	thymus
31	chr13:48627400-48639800	Weak transcription	HSMMtube	muscle
32	chr13:48627400-48640200	Weak transcription	Brain Angular Gyrus	brain
33	chr13:48627400-48640200	Weak transcription	Brain Anterior Caudate	brain
34	chr13:48627400-48640200	Weak transcription	Fetal Brain Female	brain
35	chr13:48627400-48640200	Weak transcription	Pancreas	Pancrea
36	chr13:48627400-48640200	Weak transcription	NHDF-Ad	bronchial
37	chr13:48627400-48640400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr13:48627400-48640400	Weak transcription	Lung	lung
39	chr13:48627400-48640800	Weak transcription	Esophagus	oesophagus
40	chr13:48627400-48642200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr13:48627400-48644800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr13:48627400-48645000	Weak transcription	Gastric	stomach
43	chr13:48627400-48645200	Weak transcription	Aorta	Aorta
44	chr13:48627600-48634200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr13:48627600-48639200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr13:48627600-48639600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr13:48627600-48640200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr13:48627600-48640200	Weak transcription	Brain Germinal Matrix	brain
49	chr13:48627600-48640200	Weak transcription	Placenta	Placenta
50	chr13:48627600-48640200	Weak transcription	Ovary	ovary

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