Variant report

Variant	rs72726948
Chromosome Location	chr1:173437999-173438000
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:173435562..173438278-chr1:173445966..173447922,2	MCF-7	breast:
2	chr1:173437085..173438756-chr1:173445689..173447511,2	MCF-7	breast:
3	chr1:173437373..173440361-chr1:173444583..173446668,3	K562	blood:
4	chr1:173415577..173417279-chr1:173436581..173438176,2	K562	blood:

Variant related genes	Relation type
ENSG00000117592	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11800778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11809166	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11811598	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12075952	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12085083	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12562415	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34035460	0.89[AFR][1000 genomes]
rs34619706	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35128709	0.89[AFR][1000 genomes]
rs35263596	0.90[ASN][1000 genomes]
rs3934577	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55741047	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55816799	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57231379	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57262055	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57951216	0.89[ASN][1000 genomes]
rs59834293	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60302114	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60587131	0.90[ASN][1000 genomes]
rs60969203	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61061894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61261546	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6700269	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6700499	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6702339	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72726915	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72726936	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72726946	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72726949	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74126390	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7534736	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7555324	0.89[EUR][1000 genomes];0.86[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	nsv831915	chr1:173268424-173482157	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173419000-173439000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr1:173423800-173442400	Weak transcription	NH-A	brain
3	chr1:173425200-173442400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:173429400-173439800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:173430400-173439200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:173430400-173442400	Weak transcription	Gastric	stomach
7	chr1:173430400-173442800	Weak transcription	Pancreas	Pancrea
8	chr1:173430400-173444400	Weak transcription	Right Ventricle	heart
9	chr1:173430600-173438000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr1:173430600-173438800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:173430600-173439000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:173430600-173439800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:173430600-173442600	Weak transcription	Aorta	Aorta
14	chr1:173430600-173443200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:173430600-173444400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr1:173430800-173439400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr1:173430800-173439800	Weak transcription	Fetal Stomach	stomach
18	chr1:173430800-173445000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr1:173431000-173438600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:173431000-173438800	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr1:173431000-173439000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:173431000-173439200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr1:173431000-173439600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:173431000-173439600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:173431000-173439600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr1:173431000-173439800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr1:173431000-173439800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr1:173431000-173439800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr1:173431000-173442400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:173431000-173442400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr1:173431000-173442400	Weak transcription	Hela-S3	cervix
32	chr1:173431000-173442600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr1:173431000-173442600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr1:173431000-173444400	Weak transcription	Left Ventricle	heart
35	chr1:173431200-173439800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr1:173431200-173439800	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr1:173431200-173442400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr1:173431200-173442800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:173431400-173441200	Weak transcription	HSMM	muscle
40	chr1:173431600-173442400	Weak transcription	Liver	Liver
41	chr1:173432600-173439800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr1:173432800-173442600	Weak transcription	Fetal Heart	heart
43	chr1:173433000-173439800	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr1:173433000-173442400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:173433200-173444200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr1:173433400-173442800	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr1:173433800-173440000	Weak transcription	Fetal Lung	lung
48	chr1:173435600-173442800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:173435800-173442000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr1:173436200-173438200	Strong transcription	Primary hematopoietic stem cells	blood

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