Variant report

Variant	rs62456947
Chromosome Location	chr7:27632357-27632358
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11550134	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12667470	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12670250	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13242238	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13245339	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1524525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17155498	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17155501	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17155505	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17155525	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17155537	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2192559	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2391450	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs34905189	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58231871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59686784	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61407744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62454870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62454871	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62454872	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62454876	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62454908	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62454914	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62456951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6947004	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72596952	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72596966	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs759268	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[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
rs62456947	TAX1BP1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27582400-27650800	Weak transcription	Left Ventricle	heart
2	chr7:27600600-27645600	Weak transcription	Colon Smooth Muscle	Colon
3	chr7:27605800-27645800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:27609400-27632600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:27609400-27651000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:27615600-27657800	Weak transcription	Aorta	Aorta
7	chr7:27616000-27632800	Weak transcription	HUVEC	blood vessel
8	chr7:27616000-27643400	Weak transcription	Fetal Lung	lung
9	chr7:27616000-27650800	Weak transcription	Fetal Kidney	kidney
10	chr7:27617600-27633000	Weak transcription	A549	lung
11	chr7:27618400-27645000	Weak transcription	Fetal Intestine Large	intestine
12	chr7:27619600-27634800	Weak transcription	Fetal Intestine Small	intestine
13	chr7:27619600-27635600	Weak transcription	Liver	Liver
14	chr7:27619800-27639800	Weak transcription	HepG2	liver
15	chr7:27619800-27643400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:27624400-27636600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr7:27625200-27642600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:27625800-27639600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:27625800-27645200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:27626000-27632800	Weak transcription	Osteobl	bone
21	chr7:27626600-27633400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr7:27626600-27654800	Weak transcription	Placenta	Placenta
23	chr7:27626800-27641800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr7:27626800-27646200	Weak transcription	Ovary	ovary
25	chr7:27626800-27655800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr7:27627000-27632800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr7:27627400-27632600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:27627400-27640200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:27627400-27641400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:27627400-27641600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:27627400-27645800	Weak transcription	HSMM	muscle
32	chr7:27627800-27645000	Weak transcription	NHDF-Ad	bronchial
33	chr7:27628200-27658400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr7:27628400-27638400	Weak transcription	K562	blood
35	chr7:27628600-27658400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr7:27629600-27641800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr7:27629600-27655400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:27630200-27654600	Weak transcription	Primary B cells from cord blood	blood
39	chr7:27630400-27656800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr7:27631000-27633000	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr7:27631200-27633000	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr7:27631400-27632800	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr7:27631400-27641600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:27631400-27643400	Weak transcription	Hela-S3	cervix
45	chr7:27631600-27632400	Strong transcription	Adipose Nuclei	Adipose
46	chr7:27631600-27632800	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr7:27631800-27632800	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr7:27631800-27633000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr7:27632000-27638200	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr7:27632200-27655600	Weak transcription	Primary T cells from cord blood	blood

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