Variant report

Variant	rs11550134
Chromosome Location	chr7:27702390-27702391
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:27701994..27702948-chr8:12612898..12613421,2	NB4	blood:
2	chr7:27699948..27706867-chr7:27775418..27784557,21	K562	blood:
3	chr7:27236687..27240147-chr7:27700482..27703881,4	MCF-7	breast:
4	chr7:27700432..27708426-chr7:27777901..27782637,20	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-JAZF1-1	chr7:27702317-27702476	NONHSAT119742

Variant related genes	Relation type
ENSG00000243766	Chromatin interaction
ENSG00000106031	Chromatin interaction
ENSG00000154359	Chromatin interaction
ENSG00000229893	Chromatin interaction
ENSG00000106052	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10486549	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11767324	0.81[ASN][1000 genomes]
rs12666082	0.83[EUR][1000 genomes]
rs12667470	0.82[EUR][1000 genomes]
rs1524525	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17150563	0.84[EUR][1000 genomes]
rs17155498	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17155501	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17155505	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17155525	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17155537	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2192559	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2391450	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs42089	0.89[ASN][1000 genomes]
rs58231871	0.86[AMR][1000 genomes]
rs58857361	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59686784	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61407744	0.86[AMR][1000 genomes]
rs62454870	0.86[AMR][1000 genomes]
rs62454871	0.86[AMR][1000 genomes]
rs62454872	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62454876	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62454908	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62454914	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62456947	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62456951	0.86[AMR][1000 genomes]
rs72596966	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs759268	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[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	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11550134	TAX1BP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27700600-27703600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:27700800-27703400	Active TSS	NHLF	lung
3	chr7:27701000-27703200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:27701000-27703400	Active TSS	A549	lung
5	chr7:27701000-27703400	Active TSS	HSMM	muscle
6	chr7:27701000-27703400	Active TSS	K562	blood
7	chr7:27701200-27702600	Active TSS	Small Intestine	intestine
8	chr7:27701200-27703000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:27701200-27703000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:27701200-27703200	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr7:27701200-27703200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:27701200-27703400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:27701200-27703400	Active TSS	Muscle Satellite Cultured Cells	--
14	chr7:27701200-27703400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:27701200-27703600	Active TSS	NHDF-Ad	bronchial
16	chr7:27701400-27702600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:27701400-27702800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:27701400-27703000	Active TSS	H1 Cell Line	embryonic stem cell
19	chr7:27701400-27703000	Active TSS	H9 Cell Line	embryonic stem cell
20	chr7:27701400-27703000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:27701400-27703200	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr7:27701400-27703200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:27701400-27703200	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr7:27701400-27703200	Active TSS	Brain Substantia Nigra	brain
25	chr7:27701400-27703200	Active TSS	Fetal Muscle Trunk	muscle
26	chr7:27701400-27703200	Active TSS	Placenta	Placenta
27	chr7:27701400-27703200	Active TSS	Pancreas	Pancrea
28	chr7:27701400-27703400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr7:27701400-27703400	Active TSS	Aorta	Aorta
30	chr7:27701400-27703400	Active TSS	Colonic Mucosa	Colon
31	chr7:27701400-27703400	Active TSS	Fetal Intestine Large	intestine
32	chr7:27701400-27703400	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr7:27701400-27703400	Active TSS	Ovary	ovary
34	chr7:27701400-27703600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr7:27701400-27703600	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr7:27701400-27703600	Active TSS	HSMMtube	muscle
37	chr7:27701400-27703800	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr7:27701600-27702400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
39	chr7:27701600-27702400	Bivalent/Poised TSS	HepG2	liver
40	chr7:27701600-27702600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr7:27701600-27702600	Active TSS	Gastric	stomach
42	chr7:27701600-27702600	Active TSS	Left Ventricle	heart
43	chr7:27701600-27702600	Active TSS	Lung	lung
44	chr7:27701600-27703000	Active TSS	Fetal Intestine Small	intestine
45	chr7:27701600-27703000	Active TSS	Fetal Lung	lung
46	chr7:27701600-27703000	Active TSS	GM12878-XiMat	blood
47	chr7:27701600-27703200	Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr7:27701600-27703200	Active TSS	Colon Smooth Muscle	Colon
49	chr7:27701600-27703400	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr7:27701600-27703400	Active TSS	Brain Germinal Matrix	brain

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