Variant report

Variant	rs9568007
Chromosome Location	chr13:48697490-48697491
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10397	0.96[GIH][hapmap];0.83[TSI][hapmap]
rs11617143	0.93[CEU][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11617714	0.98[EUR][1000 genomes]
rs11618304	0.98[EUR][1000 genomes]
rs11618554	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11618672	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41284209	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41287449	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45465203	0.80[EUR][1000 genomes]
rs7337521	1.00[CEU][hapmap];1.00[GIH][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9316361	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9562803	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9567982	0.93[CEU][hapmap];0.80[EUR][1000 genomes]
rs9567983	0.80[EUR][1000 genomes]
rs9567985	0.80[EUR][1000 genomes]
rs9567990	1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9567992	1.00[CEU][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9567995	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9568011	1.00[CEU][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.80[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9568007	SUCLA2	cis	cerebellum	SCAN
rs9568007	MC5R	trans	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48686600-48700000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:48691200-48698400	Weak transcription	Adipose Nuclei	Adipose
3	chr13:48692200-48697800	Weak transcription	HepG2	liver
4	chr13:48695800-48698000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr13:48695800-48699600	Weak transcription	HUVEC	blood vessel
6	chr13:48695800-48700000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr13:48695800-48701200	Weak transcription	Fetal Intestine Small	intestine
8	chr13:48696000-48697800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr13:48696000-48698000	Weak transcription	Right Ventricle	heart
10	chr13:48696000-48698000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr13:48696000-48698000	Weak transcription	HSMMtube	muscle
12	chr13:48696000-48699600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr13:48696200-48698000	Weak transcription	Ovary	ovary
14	chr13:48696200-48698000	Weak transcription	Right Atrium	heart
15	chr13:48696200-48698400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr13:48696200-48699800	Weak transcription	Fetal Kidney	kidney
17	chr13:48696200-48701200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr13:48696200-48701200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr13:48696400-48698000	Weak transcription	Lung	lung
20	chr13:48696400-48698000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr13:48696400-48698000	Weak transcription	Small Intestine	intestine
22	chr13:48696400-48699800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr13:48696400-48699800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr13:48696600-48697800	Weak transcription	Colon Smooth Muscle	Colon
25	chr13:48696800-48697800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr13:48697400-48701400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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