Variant report

Variant	rs7820921
Chromosome Location	chr8:59562656-59562657
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:59554899..59558195-chr8:59561131..59563010,4	K562	blood:
2	chr8:59541361..59543915-chr8:59561819..59563947,2	K562	blood:
3	chr8:59561564..59565791-chr8:59570091..59573890,6	MCF-7	breast:
4	chr8:59558665..59561623-chr8:59562018..59565926,5	K562	blood:

Variant related genes	Relation type
ENSG00000035681	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12334684	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1387222	0.81[GIH][hapmap]
rs17272151	0.82[GIH][hapmap]
rs2255834	0.89[CEU][hapmap];0.81[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2279460	0.80[JPT][hapmap]
rs2279462	0.80[JPT][hapmap]
rs2634527	0.80[TSI][hapmap]
rs2634530	0.89[CEU][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2634531	0.86[JPT][hapmap]
rs2634534	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2680897	0.89[CEU][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2680899	0.94[ASW][hapmap];0.92[CEU][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2680901	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28819228	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2946578	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4598239	0.82[GIH][hapmap]
rs4737504	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6985007	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6985643	0.92[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6987187	0.85[CEU][hapmap]
rs7825739	0.82[GIH][hapmap]
rs7836960	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7844231	0.80[JPT][hapmap]
rs901954	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][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	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv831325	chr8:59492580-59694443	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7820921	TOX	cis	cerebellum	SCAN
rs7820921	AQPEP	trans	parietal	SCAN
rs7820921	RAB2A	cis	cerebellum	SCAN

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59510400-59570200	Weak transcription	Colonic Mucosa	Colon
2	chr8:59522000-59570200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:59536200-59564000	Weak transcription	Fetal Brain Male	brain
4	chr8:59543200-59564000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr8:59543200-59570200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:59543200-59570200	Weak transcription	Fetal Kidney	kidney
7	chr8:59543400-59564000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr8:59543400-59564200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:59543400-59564200	Weak transcription	Right Ventricle	heart
10	chr8:59543400-59570000	Weak transcription	Brain Angular Gyrus	brain
11	chr8:59545600-59564000	Weak transcription	Brain Hippocampus Middle	brain
12	chr8:59546200-59563800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr8:59547200-59570200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:59547600-59564000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr8:59551000-59570400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr8:59552600-59570400	Weak transcription	Liver	Liver
17	chr8:59552800-59563000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr8:59552800-59563200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr8:59552800-59564000	Weak transcription	Fetal Lung	lung
20	chr8:59554400-59570000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr8:59554600-59569600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:59555200-59564800	Weak transcription	NHLF	lung
23	chr8:59555200-59565000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr8:59556200-59569600	Weak transcription	Ovary	ovary
25	chr8:59556400-59564200	Weak transcription	Right Atrium	heart
26	chr8:59556400-59565000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:59556800-59569800	Weak transcription	HUVEC	blood vessel
28	chr8:59558400-59563000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr8:59558400-59569600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:59558600-59565000	Weak transcription	Spleen	Spleen
31	chr8:59559600-59563800	ZNF genes & repeats	GM12878-XiMat	blood
32	chr8:59559600-59564600	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr8:59559800-59563000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr8:59559800-59564200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:59560200-59563400	Weak transcription	Colon Smooth Muscle	Colon
36	chr8:59560200-59564200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr8:59560200-59564800	Weak transcription	Pancreas	Pancrea
38	chr8:59560200-59569600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr8:59560200-59569600	Weak transcription	Hela-S3	cervix
40	chr8:59560200-59570200	Weak transcription	HSMM	muscle
41	chr8:59560200-59570200	Weak transcription	NHEK	skin
42	chr8:59560200-59571000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr8:59560400-59563600	Weak transcription	Psoas Muscle	Psoas
44	chr8:59560400-59564000	Weak transcription	Fetal Heart	heart
45	chr8:59560400-59569600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr8:59560600-59562800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:59560600-59569800	Weak transcription	Osteobl	bone
48	chr8:59560800-59563600	Weak transcription	Brain Anterior Caudate	brain
49	chr8:59560800-59569600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:59561400-59563400	Weak transcription	Small Intestine	intestine

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