Variant report

Variant	rs72754415
Chromosome Location	chr9:95246064-95246065
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:95245372..95247917-chr9:95248004..95249887,2	MCF-7	breast:
2	chr9:95239945..95242364-chr9:95245740..95247306,2	MCF-7	breast:
3	chr9:95245180..95247895-chr9:95248279..95250997,3	K562	blood:
4	chr9:95238409..95241163-chr9:95245198..95246884,2	MCF-7	breast:
5	chr9:95245354..95247680-chr9:95279166..95281336,2	K562	blood:
6	chr9:95246044..95249991-chr9:95252570..95256486,5	MCF-7	breast:

Extended variants
information (count: 147 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:143)

rs_ID	r²[population]
rs17365144	0.95[ASN][1000 genomes]
rs17519320	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17519397	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17519453	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17519719	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17519922	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17591007	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17591372	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17591776	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17591958	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17592026	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17678735	1.00[AMR][1000 genomes]
rs2044540	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2236529	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs28365880	1.00[AMR][1000 genomes]
rs34758505	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34860658	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3758228	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3758230	1.00[AMR][1000 genomes]
rs3758232	1.00[AMR][1000 genomes]
rs3780348	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3780349	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3802383	0.85[ASN][1000 genomes]
rs41276835	1.00[AMR][1000 genomes]
rs41277647	1.00[AMR][1000 genomes]
rs41277739	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs41278699	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41297183	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs41301527	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs41305495	0.95[ASN][1000 genomes]
rs41312230	1.00[AMR][1000 genomes]
rs41312236	0.95[ASN][1000 genomes]
rs4298540	1.00[AMR][1000 genomes]
rs72750463	1.00[AMR][1000 genomes]
rs72750465	1.00[AMR][1000 genomes]
rs72750466	1.00[AMR][1000 genomes]
rs72750468	1.00[AMR][1000 genomes]
rs72750469	1.00[AMR][1000 genomes]
rs72750472	1.00[AMR][1000 genomes]
rs72750474	1.00[AMR][1000 genomes]
rs72750478	1.00[AMR][1000 genomes]
rs72750479	1.00[AMR][1000 genomes]
rs72750482	1.00[AMR][1000 genomes]
rs72750483	1.00[AMR][1000 genomes]
rs72750487	1.00[AMR][1000 genomes]
rs72750490	1.00[AMR][1000 genomes]
rs72750491	0.93[AMR][1000 genomes]
rs72750493	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72750494	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72750496	1.00[AMR][1000 genomes]
rs72750498	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72750500	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72750501	1.00[AMR][1000 genomes]
rs72750502	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72752403	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72752404	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72752405	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72752406	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72752411	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72752417	1.00[AMR][1000 genomes]
rs72752419	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72752422	1.00[AMR][1000 genomes]
rs72752425	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72752427	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72752431	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72752435	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72752442	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs72752443	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs72752444	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs72752445	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72752446	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72752449	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72752453	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72752454	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72752457	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72752458	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72752460	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72752463	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72752467	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72752469	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72752471	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752472	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752474	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72752475	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72752477	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72752479	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72752482	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72752483	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72752484	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752485	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752486	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752492	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752493	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752497	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752502	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754403	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754404	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754408	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754410	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754411	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754418	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754420	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754421	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754423	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754425	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72754429	0.89[ASN][1000 genomes]
rs72754430	0.89[ASN][1000 genomes]
rs72754434	0.95[ASN][1000 genomes]
rs72754436	0.81[ASN][1000 genomes]
rs72754437	0.95[ASN][1000 genomes]
rs72754440	0.95[ASN][1000 genomes]
rs72754442	0.95[ASN][1000 genomes]
rs72754443	0.95[ASN][1000 genomes]
rs72754444	0.95[ASN][1000 genomes]
rs72754445	0.95[ASN][1000 genomes]
rs72754446	0.95[ASN][1000 genomes]
rs72754447	0.89[ASN][1000 genomes]
rs72754450	0.95[ASN][1000 genomes]
rs72754452	0.95[ASN][1000 genomes]
rs72754457	0.95[ASN][1000 genomes]
rs72754461	0.95[ASN][1000 genomes]
rs72754463	0.95[ASN][1000 genomes]
rs72754464	0.81[ASN][1000 genomes]
rs72754465	0.95[ASN][1000 genomes]
rs72754470	0.95[ASN][1000 genomes]
rs72754477	0.95[ASN][1000 genomes]
rs72754480	0.81[ASN][1000 genomes]
rs72754482	0.95[ASN][1000 genomes]
rs72754483	0.95[ASN][1000 genomes]
rs72754485	0.81[ASN][1000 genomes]
rs72754487	0.81[ASN][1000 genomes]
rs72754489	0.95[ASN][1000 genomes]
rs72754491	0.95[ASN][1000 genomes]
rs72754493	0.84[ASN][1000 genomes]
rs72754496	0.95[ASN][1000 genomes]
rs72754499	0.95[ASN][1000 genomes]
rs72754501	0.95[ASN][1000 genomes]
rs72756404	0.84[ASN][1000 genomes]
rs72756405	0.84[ASN][1000 genomes]
rs72756406	0.84[ASN][1000 genomes]
rs72756448	0.84[ASN][1000 genomes]
rs921122	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv893573	chr9:94974188-95355719	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1047337	chr9:95105638-95347484	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1049599	chr9:95170139-95265558	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95231800-95268800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:95235400-95251600	Weak transcription	Psoas Muscle	Psoas
3	chr9:95241200-95246800	Enhancers	Fetal Lung	lung
4	chr9:95241400-95251800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr9:95241400-95255000	Weak transcription	Esophagus	oesophagus
6	chr9:95242600-95247200	Enhancers	NHDF-Ad	bronchial
7	chr9:95242800-95247200	Weak transcription	Left Ventricle	heart
8	chr9:95243000-95248200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr9:95243600-95251200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr9:95243600-95263800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr9:95243800-95246600	Enhancers	NHEK	skin
12	chr9:95243800-95248400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr9:95243800-95248400	Weak transcription	K562	blood
14	chr9:95243800-95251200	Weak transcription	HSMM	muscle
15	chr9:95243800-95251200	Weak transcription	HSMMtube	muscle
16	chr9:95243800-95251400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr9:95243800-95251400	Weak transcription	Aorta	Aorta
18	chr9:95244400-95247400	Enhancers	Fetal Heart	heart
19	chr9:95244600-95247400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr9:95244800-95247000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr9:95244800-95247200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr9:95244800-95247400	Enhancers	Fetal Stomach	stomach
23	chr9:95245000-95246200	Enhancers	Fetal Muscle Leg	muscle
24	chr9:95245000-95246800	Enhancers	Colon Smooth Muscle	Colon
25	chr9:95245000-95247200	Enhancers	Rectal Smooth Muscle	rectum
26	chr9:95245000-95247200	Enhancers	NHLF	lung
27	chr9:95245000-95247400	Enhancers	Stomach Smooth Muscle	stomach
28	chr9:95245200-95247200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr9:95245200-95247400	Enhancers	Ovary	ovary
30	chr9:95245400-95246200	Enhancers	Fetal Muscle Trunk	muscle
31	chr9:95245600-95246200	Enhancers	Lung	lung
32	chr9:95245800-95246200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr9:95245800-95246200	Enhancers	Right Atrium	heart
34	chr9:95245800-95246400	Enhancers	Adipose Nuclei	Adipose
35	chr9:95245800-95246600	Enhancers	Hela-S3	cervix
36	chr9:95245800-95246800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr9:95245800-95246800	Enhancers	Osteobl	bone
38	chr9:95245800-95247000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr9:95245800-95247400	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr9:95246000-95246400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr9:95246000-95246400	Enhancers	HMEC	breast
42	chr9:95246000-95246600	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr9:95246000-95246800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr9:95246000-95246800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr9:95246000-95246800	Enhancers	Muscle Satellite Cultured Cells	--
46	chr9:95246000-95246800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr9:95246000-95246800	Enhancers	NH-A	brain
48	chr9:95246000-95247200	Enhancers	HUVEC	blood vessel

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