Variant report

Variant	rs7082251
Chromosome Location	chr10:50220612-50220613
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:50180497..50182804-chr10:50219120..50221241,2	K562	blood:
2	chr10:49899844..49902277-chr10:50218756..50220878,2	MCF-7	breast:
3	chr10:50219903..50222688-chr10:50236599..50239408,3	K562	blood:
4	chr10:50219935..50221949-chr10:50243957..50245901,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1125517	1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.89[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12763621	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12763646	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12764062	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12764806	0.85[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12765128	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs12765141	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12767010	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12768497	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.89[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12769016	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12770345	0.86[CHB][hapmap]
rs12770669	1.00[CHB][hapmap];0.97[CHD][hapmap];0.82[TSI][hapmap];0.93[ASN][1000 genomes]
rs12770882	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12774742	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12775075	0.93[ASN][1000 genomes]
rs12775861	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12775969	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12776211	0.85[CHB][hapmap];0.84[CHD][hapmap]
rs12779947	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12782892	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17773323	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1877798	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1877806	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1913519	0.97[EUR][1000 genomes]
rs1996185	0.97[EUR][1000 genomes]
rs2102686	0.82[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2175916	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2175917	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2254863	0.98[EUR][1000 genomes]
rs2255253	0.97[EUR][1000 genomes]
rs2255360	0.98[EUR][1000 genomes]
rs34706288	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3763776	1.00[CHB][hapmap];0.97[CHD][hapmap];0.87[TSI][hapmap];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3810954	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.89[JPT][hapmap];0.96[LWK][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3938117	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs7078453	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7078724	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7082096	0.85[CHB][hapmap];0.84[CHD][hapmap]
rs7083453	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7912598	1.00[CHB][hapmap];0.97[CHD][hapmap];0.82[TSI][hapmap];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv831866	chr10:50165180-50335276	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
3	nsv6620	chr10:50197344-50224635	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7082251	ACAD11	trans	cerebellum	SCAN
rs7082251	MAPK8	cis	cerebellum	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50210800-50223600	Weak transcription	Spleen	Spleen
2	chr10:50213400-50223000	Enhancers	Ovary	ovary
3	chr10:50215200-50222400	Enhancers	Left Ventricle	heart
4	chr10:50216200-50221800	Enhancers	Fetal Intestine Small	intestine
5	chr10:50216600-50222000	Enhancers	Right Ventricle	heart
6	chr10:50216600-50223000	Enhancers	Placenta	Placenta
7	chr10:50217200-50226600	Weak transcription	Aorta	Aorta
8	chr10:50217400-50231200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr10:50217600-50227000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr10:50218000-50221000	Weak transcription	Fetal Lung	lung
11	chr10:50218600-50223800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr10:50218600-50225800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr10:50218600-50238200	Weak transcription	Esophagus	oesophagus
14	chr10:50218800-50221600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr10:50218800-50231400	Weak transcription	Adipose Nuclei	Adipose
16	chr10:50219200-50221200	Weak transcription	Colon Smooth Muscle	Colon
17	chr10:50219200-50222200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr10:50219200-50226600	Weak transcription	HSMMtube	muscle
19	chr10:50219400-50220800	Genic enhancers	Fetal Stomach	stomach
20	chr10:50219400-50221400	Weak transcription	Right Atrium	heart
21	chr10:50220000-50225800	Weak transcription	Fetal Intestine Large	intestine
22	chr10:50220200-50221000	Enhancers	Fetal Muscle Leg	muscle
23	chr10:50220200-50222800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr10:50220400-50221400	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr10:50220400-50233600	Weak transcription	Gastric	stomach
26	chr10:50220600-50220800	Enhancers	Brain Hippocampus Middle	brain
27	chr10:50220600-50220800	Bivalent Enhancer	Fetal Brain Male	brain
28	chr10:50220600-50220800	Enhancers	K562	blood
29	chr10:50220600-50221000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr10:50220600-50221400	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr10:50220600-50223000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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