Variant report

Variant	rs765506
Chromosome Location	chr7:112213760-112213761
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	chr7:112204602..112207127-chr7:112213169..112215760,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11768435	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11769472	0.94[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11770458	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11770706	0.93[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11771324	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1922901	0.91[EUR][1000 genomes]
rs2188548	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2285541	1.00[CHB][hapmap]
rs28653710	0.90[EUR][1000 genomes]
rs34571206	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4478510	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62473830	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62476688	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6946196	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6947690	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6973084	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs726593	0.85[CHB][hapmap]
rs728461	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs765507	1.00[ASN][1000 genomes]
rs7802889	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[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	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	nsv889055	chr7:112174089-112353440	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs765506	TMEM168	cis	cerebellum	SCAN
rs765506	C7orf53	cis	cerebellum	SCAN
rs765506	RACGAP1P	trans	cerebellum	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112207400-112216400	Weak transcription	Psoas Muscle	Psoas
2	chr7:112209800-112213800	Weak transcription	Colonic Mucosa	Colon
3	chr7:112211200-112214600	Enhancers	Fetal Intestine Small	intestine
4	chr7:112211200-112215200	Enhancers	Fetal Intestine Large	intestine
5	chr7:112211600-112214400	Enhancers	Stomach Mucosa	stomach
6	chr7:112211800-112213800	Enhancers	HepG2	liver
7	chr7:112211800-112216800	Enhancers	Fetal Heart	heart
8	chr7:112212200-112213800	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr7:112212200-112214000	Enhancers	Adipose Nuclei	Adipose
10	chr7:112212200-112214200	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr7:112212400-112213800	Weak transcription	Gastric	stomach
12	chr7:112212400-112214000	Enhancers	Brain Germinal Matrix	brain
13	chr7:112212400-112214000	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr7:112212400-112214800	Enhancers	Duodenum Mucosa	Duodenum
15	chr7:112212400-112215200	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr7:112212400-112216400	Weak transcription	Left Ventricle	heart
17	chr7:112212600-112214800	Enhancers	K562	blood
18	chr7:112212800-112214000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:112213000-112214000	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr7:112213000-112214400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr7:112213200-112214000	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr7:112213200-112214000	Enhancers	HSMMtube	muscle
23	chr7:112213200-112220000	Weak transcription	Right Ventricle	heart
24	chr7:112213400-112213800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:112213400-112214000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr7:112213400-112214200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:112213400-112214200	Enhancers	Fetal Brain Female	brain
28	chr7:112213400-112214400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr7:112213600-112214000	Enhancers	H9 Cell Line	embryonic stem cell
30	chr7:112213600-112214000	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr7:112213600-112214000	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr7:112213600-112214000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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