Variant report

Variant	rs62454908
Chromosome Location	chr7:27680311-27680312
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:27675143..27677851-chr7:27679227..27682104,2	MCF-7	breast:
2	chr7:27679604..27681845-chr7:27698642..27701537,2	K562	blood:
3	chr7:27680112..27682122-chr7:27959317..27961173,2	MCF-7	breast:
4	chr7:27679604..27681661-chr7:27699022..27701537,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10486549	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11550134	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12666082	0.82[EUR][1000 genomes]
rs12667470	0.84[EUR][1000 genomes]
rs1524525	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17150563	0.84[EUR][1000 genomes]
rs17155498	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17155501	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17155505	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17155525	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17155537	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2192559	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2391450	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs42089	0.84[ASN][1000 genomes]
rs58231871	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58857361	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59686784	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61407744	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62454870	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62454871	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62454872	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62454876	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62454914	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62456947	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62456951	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6947004	0.82[EUR][1000 genomes]
rs72596952	0.81[EUR][1000 genomes]
rs72596966	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs759268	0.96[AMR][1000 genomes];1.00[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
rs62454908	TAX1BP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:110 , 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	chr7:27660600-27701000	Weak transcription	Right Ventricle	heart
6	chr7:27661000-27680600	Weak transcription	HepG2	liver
7	chr7:27661000-27688000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr7:27661200-27694800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr7:27661400-27688800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr7:27661400-27700800	Weak transcription	Thymus	Thymus
11	chr7:27661600-27681000	Weak transcription	NHEK	skin
12	chr7:27661800-27681400	Weak transcription	Pancreas	Pancrea
13	chr7:27661800-27686400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:27661800-27692200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:27661800-27694400	Weak transcription	Lung	lung
16	chr7:27662400-27686800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr7:27662600-27688200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr7:27662800-27688000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr7:27664400-27680400	Weak transcription	NH-A	brain
20	chr7:27664600-27681400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:27664800-27688200	Weak transcription	K562	blood
22	chr7:27665000-27680400	Weak transcription	NHDF-Ad	bronchial
23	chr7:27665000-27681000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:27665000-27686000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:27666200-27683200	Weak transcription	Esophagus	oesophagus
26	chr7:27667000-27680800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr7:27667200-27686000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr7:27668400-27687400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr7:27668600-27686800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr7:27670400-27681000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr7:27670400-27686200	Weak transcription	Fetal Stomach	stomach
32	chr7:27671400-27701600	Weak transcription	Spleen	Spleen
33	chr7:27674000-27700800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr7:27674600-27680800	Weak transcription	Left Ventricle	heart
35	chr7:27674800-27686800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:27674800-27695200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr7:27675000-27680800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:27675000-27681000	Weak transcription	Aorta	Aorta
39	chr7:27675000-27700800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr7:27675200-27680600	Weak transcription	Right Atrium	heart
41	chr7:27675400-27680600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr7:27675400-27681200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr7:27675400-27681400	Weak transcription	Brain Substantia Nigra	brain
44	chr7:27675400-27701400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr7:27675600-27685800	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr7:27675600-27686600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr7:27675800-27686800	Weak transcription	Dnd41	blood
48	chr7:27676000-27701600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr7:27676200-27680800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr7:27676200-27693200	Weak transcription	Primary monocytes fromperipheralblood	blood

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