Variant report

Variant	rs56123216
Chromosome Location	chr7:27679077-27679078
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10447552	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10951175	0.94[ASN][1000 genomes]
rs10951176	0.94[ASN][1000 genomes]
rs1115346	0.94[ASN][1000 genomes]
rs1115347	0.85[ASN][1000 genomes]
rs11762342	0.94[ASN][1000 genomes]
rs11763449	0.94[ASN][1000 genomes]
rs11973492	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12155430	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12164139	0.87[ASN][1000 genomes]
rs12530626	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12531952	0.81[ASN][1000 genomes]
rs12535844	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12665991	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12667610	0.94[ASN][1000 genomes]
rs12670771	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12672811	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13226102	0.81[ASN][1000 genomes]
rs13242248	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13244903	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13246464	0.85[AMR][1000 genomes]
rs13308974	0.81[ASN][1000 genomes]
rs2391448	0.81[AMR][1000 genomes]
rs2391449	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2391452	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2391453	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs42085	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4722724	0.87[ASN][1000 genomes]
rs4722728	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs56139857	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58747588	0.87[ASN][1000 genomes]
rs6462038	0.94[ASN][1000 genomes]
rs6944610	0.85[ASN][1000 genomes]
rs6945993	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6946305	0.82[AMR][1000 genomes]
rs6948460	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6959495	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6961429	0.81[ASN][1000 genomes]
rs6963421	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6966587	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6970104	0.94[ASN][1000 genomes]
rs6974387	0.94[ASN][1000 genomes]
rs6974932	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7778320	0.87[ASN][1000 genomes]
rs7790498	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7805086	0.94[ASN][1000 genomes]
rs7806812	0.94[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
rs56123216	TAX1BP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27654400-27696400	Weak transcription	Gastric	stomach
2	chr7:27658800-27687800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:27658800-27688600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:27660000-27680600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:27660400-27680200	Weak transcription	Fetal Kidney	kidney
6	chr7:27660600-27701000	Weak transcription	Right Ventricle	heart
7	chr7:27661000-27679600	Weak transcription	HSMMtube	muscle
8	chr7:27661000-27680600	Weak transcription	HepG2	liver
9	chr7:27661000-27688000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr7:27661200-27694800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr7:27661400-27688800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr7:27661400-27700800	Weak transcription	Thymus	Thymus
13	chr7:27661600-27681000	Weak transcription	NHEK	skin
14	chr7:27661800-27680200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr7:27661800-27681400	Weak transcription	Pancreas	Pancrea
16	chr7:27661800-27686400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:27661800-27692200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:27661800-27694400	Weak transcription	Lung	lung
19	chr7:27662400-27686800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr7:27662600-27688200	Weak transcription	Primary B cells from peripheral blood	blood
21	chr7:27662800-27688000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr7:27664400-27680400	Weak transcription	NH-A	brain
23	chr7:27664600-27681400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:27664800-27688200	Weak transcription	K562	blood
25	chr7:27665000-27680400	Weak transcription	NHDF-Ad	bronchial
26	chr7:27665000-27681000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr7:27665000-27686000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:27665600-27680000	Weak transcription	HUVEC	blood vessel
29	chr7:27666200-27683200	Weak transcription	Esophagus	oesophagus
30	chr7:27667000-27680800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr7:27667200-27686000	Weak transcription	Fetal Muscle Trunk	muscle
32	chr7:27668400-27687400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr7:27668600-27686800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr7:27669400-27680200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr7:27670400-27679600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr7:27670400-27681000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr7:27670400-27686200	Weak transcription	Fetal Stomach	stomach
38	chr7:27671000-27679600	Weak transcription	Fetal Muscle Leg	muscle
39	chr7:27671400-27701600	Weak transcription	Spleen	Spleen
40	chr7:27671600-27680000	Weak transcription	HSMM	muscle
41	chr7:27671600-27680200	Weak transcription	NHLF	lung
42	chr7:27673000-27679600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr7:27674000-27700800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr7:27674600-27680800	Weak transcription	Left Ventricle	heart
45	chr7:27674800-27686800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:27674800-27695200	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr7:27675000-27679400	Weak transcription	Placenta	Placenta
48	chr7:27675000-27679600	Weak transcription	Liver	Liver
49	chr7:27675000-27680800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr7:27675000-27681000	Weak transcription	Aorta	Aorta

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