Variant report

Variant	rs13242238
Chromosome Location	chr7:27564744-27564745
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10486549	0.91[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap]
rs12667470	0.95[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12670250	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13245339	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1524525	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1524527	0.86[JPT][hapmap]
rs17155443	0.83[JPT][hapmap]
rs17155498	0.95[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17155501	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17155505	0.95[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17155525	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17155537	0.91[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap]
rs2108309	0.89[CEU][hapmap]
rs2192559	0.95[CEU][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2391450	0.87[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap]
rs2893292	0.86[JPT][hapmap]
rs34905189	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs42089	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs42100	0.86[JPT][hapmap]
rs58231871	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59686784	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61407744	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62454870	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62454871	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62454872	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62456947	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62456951	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6947004	0.83[EUR][1000 genomes]
rs6975900	0.91[JPT][hapmap]
rs72596952	0.82[EUR][1000 genomes]
rs759268	0.95[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap]
rs759272	0.82[JPT][hapmap]

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	nsv830930	chr7:27395838-27587355	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13242238	TAX1BP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27552600-27564800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr7:27552600-27568200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:27553200-27581000	Weak transcription	Fetal Heart	heart
4	chr7:27555000-27568600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr7:27555800-27581000	Weak transcription	Gastric	stomach
6	chr7:27556000-27579200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:27556000-27581600	Weak transcription	HMEC	breast
8	chr7:27556400-27584400	Weak transcription	NHEK	skin
9	chr7:27556400-27586400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:27556600-27568400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:27556600-27569000	Weak transcription	NHDF-Ad	bronchial
12	chr7:27556800-27568800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:27557200-27573400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr7:27558000-27579800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:27558200-27566800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:27558400-27565200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr7:27558600-27565200	Weak transcription	HepG2	liver
18	chr7:27558600-27566400	Weak transcription	Fetal Intestine Small	intestine
19	chr7:27558600-27568200	Weak transcription	Right Ventricle	heart
20	chr7:27559400-27584200	Weak transcription	Pancreas	Pancrea
21	chr7:27559400-27627800	Weak transcription	Psoas Muscle	Psoas
22	chr7:27559800-27593000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr7:27560000-27564800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr7:27560600-27565800	Weak transcription	Lung	lung
25	chr7:27560800-27565200	Weak transcription	Thymus	Thymus
26	chr7:27560800-27578800	Weak transcription	NHLF	lung
27	chr7:27561200-27566600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr7:27561200-27568400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr7:27561200-27580200	Weak transcription	Colon Smooth Muscle	Colon
30	chr7:27561200-27580600	Strong transcription	Liver	Liver
31	chr7:27561400-27568200	Weak transcription	Fetal Brain Male	brain
32	chr7:27561600-27583000	Weak transcription	Colonic Mucosa	Colon
33	chr7:27561800-27568400	Weak transcription	HSMMtube	muscle
34	chr7:27561800-27580200	Weak transcription	Fetal Stomach	stomach
35	chr7:27562400-27565200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr7:27562400-27565600	Weak transcription	Hela-S3	cervix
37	chr7:27562400-27568600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr7:27562400-27579800	Weak transcription	NH-A	brain
39	chr7:27562400-27581000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr7:27562400-27581000	Weak transcription	Spleen	Spleen
41	chr7:27562600-27565400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr7:27562600-27568800	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr7:27563000-27565400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr7:27563000-27580000	Weak transcription	Fetal Thymus	thymus
45	chr7:27563000-27581000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr7:27563200-27579800	Weak transcription	Brain Angular Gyrus	brain
47	chr7:27563400-27564800	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr7:27563400-27566400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr7:27563400-27568200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr7:27563400-27569200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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