Variant report

Variant	rs9595806
Chromosome Location	chr13:48478291-48478292
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10220099	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13378425	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2406701	0.82[EUR][1000 genomes]
rs28628659	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28794608	0.82[EUR][1000 genomes]
rs4496017	0.80[EUR][1000 genomes]
rs55845516	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6561409	0.88[EUR][1000 genomes]
rs6561423	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7317676	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7319779	0.82[EUR][1000 genomes]
rs840431	0.80[EUR][1000 genomes]
rs9316341	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs9591118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9591119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9591120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9591121	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9591122	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9591124	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9591125	0.82[EUR][1000 genomes]
rs9591126	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs9591128	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs9595805	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9595808	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs9595809	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9595810	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9595811	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9595814	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9595816	0.90[EUR][1000 genomes]
rs9595819	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9595826	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9595827	0.83[EUR][1000 genomes]
rs9595828	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs9595830	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs9595831	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs9595832	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9595833	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3510679	chr13:48236624-48498185	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv3510680	chr13:48236624-48498185	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	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
4	esv1803690	chr13:48470681-48508091	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9595806	SUCLA2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48451000-48480200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr13:48465000-48484000	Weak transcription	Primary T cells from cord blood	blood
3	chr13:48468600-48485600	Weak transcription	Gastric	stomach
4	chr13:48468800-48479600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr13:48468800-48482400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr13:48472000-48482200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr13:48472200-48482400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr13:48472200-48482400	Weak transcription	NHEK	skin
9	chr13:48472200-48491400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr13:48476000-48479800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr13:48476200-48478400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr13:48477000-48506400	Weak transcription	Psoas Muscle	Psoas
13	chr13:48478000-48478400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr13:48478000-48478400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr13:48478000-48478400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
16	chr13:48478000-48478400	Active TSS	Rectal Mucosa Donor 31	rectum
17	chr13:48478000-48478400	Enhancers	NH-A	brain
18	chr13:48478000-48478600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr13:48478000-48478600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr13:48478000-48478600	Active TSS	Duodenum Mucosa	Duodenum
21	chr13:48478000-48478600	Active TSS	Placenta	Placenta
22	chr13:48478000-48478600	Active TSS	Osteobl	bone
23	chr13:48478000-48478800	Active TSS	Adipose Nuclei	Adipose
24	chr13:48478000-48478800	Active TSS	Ovary	ovary
25	chr13:48478000-48478800	Active TSS	K562	blood
26	chr13:48478000-48479000	Active TSS	Monocytes-CD14+_RO01746	blood
27	chr13:48478000-48479400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr13:48478000-48479600	Enhancers	HUVEC	blood vessel
29	chr13:48478200-48478400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr13:48478200-48478400	Active TSS	NHLF	lung
31	chr13:48478200-48478600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr13:48478200-48478600	Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr13:48478200-48478600	Active TSS	Primary B cells from peripheral blood	blood
34	chr13:48478200-48478600	Active TSS	Liver	Liver
35	chr13:48478200-48478600	Active TSS	Brain Angular Gyrus	brain
36	chr13:48478200-48478600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr13:48478200-48478600	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr13:48478200-48478600	Enhancers	Esophagus	oesophagus
39	chr13:48478200-48478600	Active TSS	Rectal Smooth Muscle	rectum
40	chr13:48478200-48478600	Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr13:48478200-48478600	Flanking Active TSS	Hela-S3	cervix
42	chr13:48478200-48478600	Enhancers	NHDF-Ad	bronchial
43	chr13:48478200-48478800	Active TSS	Left Ventricle	heart
44	chr13:48478200-48478800	Active TSS	GM12878-XiMat	blood
45	chr13:48478200-48482600	Weak transcription	H1 Cell Line	embryonic stem cell

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