Variant report

Variant	rs12667470
Chromosome Location	chr7:27619594-27619595
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27618913..27620568-chr7:27623427..27626042,2	K562	blood:
2	chr7:27249606..27250151-chr7:27618603..27619596,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10486549	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10486559	0.95[CEU][hapmap]
rs11550134	0.82[EUR][1000 genomes]
rs12670250	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12671723	0.87[JPT][hapmap]
rs12700831	0.86[JPT][hapmap]
rs13242238	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13245339	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1524525	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1524527	0.86[JPT][hapmap]
rs17155443	0.82[JPT][hapmap]
rs17155498	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17155501	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17155505	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17155525	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17155537	0.95[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17155702	0.95[CEU][hapmap]
rs2074769	0.95[CEU][hapmap]
rs2108309	0.94[CEU][hapmap]
rs2192559	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2391450	0.91[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes]
rs2893292	0.86[JPT][hapmap]
rs34905189	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs42089	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs42100	0.85[JPT][hapmap]
rs58231871	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59686784	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61407744	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62454870	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62454871	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62454872	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62454876	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62454908	0.84[EUR][1000 genomes]
rs62454914	0.82[EUR][1000 genomes]
rs62456947	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62456951	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6947004	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6975900	0.81[JPT][hapmap]
rs72596952	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72596966	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs759268	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs759272	0.91[JPT][hapmap]
rs7778454	0.81[CHB][hapmap];0.86[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	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
rs12667470	TAX1BP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27559400-27627800	Weak transcription	Psoas Muscle	Psoas
2	chr7:27582400-27650800	Weak transcription	Left Ventricle	heart
3	chr7:27600600-27645600	Weak transcription	Colon Smooth Muscle	Colon
4	chr7:27603000-27626400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:27603200-27631800	Weak transcription	Primary T cells from cord blood	blood
6	chr7:27603600-27626400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr7:27605200-27624400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:27605800-27645800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:27609400-27632600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:27609400-27651000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr7:27615600-27621800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr7:27615600-27626400	Weak transcription	Ovary	ovary
13	chr7:27615600-27626400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr7:27615600-27657800	Weak transcription	Aorta	Aorta
15	chr7:27615800-27620600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:27616000-27620600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:27616000-27626600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr7:27616000-27631600	Weak transcription	Adipose Nuclei	Adipose
19	chr7:27616000-27632800	Weak transcription	HUVEC	blood vessel
20	chr7:27616000-27643400	Weak transcription	Fetal Lung	lung
21	chr7:27616000-27650800	Weak transcription	Fetal Kidney	kidney
22	chr7:27617200-27619600	Enhancers	Liver	Liver
23	chr7:27617400-27619800	Enhancers	HepG2	liver
24	chr7:27617600-27633000	Weak transcription	A549	lung
25	chr7:27618400-27645000	Weak transcription	Fetal Intestine Large	intestine
26	chr7:27619000-27619600	Enhancers	Fetal Intestine Small	intestine
27	chr7:27619000-27619800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:27619000-27620000	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr7:27619400-27624800	Weak transcription	Muscle Satellite Cultured Cells	--

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