Variant report

Variant	rs72748550
Chromosome Location	chr9:97648567-97648568
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:97647969..97650285-chr9:97681908..97683951,2	MCF-7	breast:
2	chr9:97643198..97646263-chr9:97646433..97648842,3	MCF-7	breast:
3	chr9:97640769..97645412-chr9:97646279..97650520,7	MCF-7	breast:
4	chr9:97648544..97650867-chr9:97765700..97767647,2	MCF-7	breast:
5	chr9:97634943..97636694-chr9:97648278..97650247,2	MCF-7	breast:
6	chr9:97646214..97649715-chr9:97676410..97681725,5	MCF-7	breast:
7	chr9:97647198..97648979-chr9:97662431..97664463,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236095	Chromatin interaction
ENSG00000148120	Chromatin interaction

Extended variants
information (count: 212 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:211)

rs_ID	r²[population]
rs1004813	0.86[ASN][1000 genomes]
rs10512252	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12682668	0.85[ASN][1000 genomes]
rs12682754	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12683036	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12683213	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12684072	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12684117	1.00[EUR][1000 genomes]
rs12684139	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12684154	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12684461	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12684470	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12684777	0.86[ASN][1000 genomes]
rs12684781	0.86[ASN][1000 genomes]
rs12685042	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12685442	0.86[ASN][1000 genomes]
rs12685623	0.86[ASN][1000 genomes]
rs12685645	0.86[ASN][1000 genomes]
rs12685907	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12686277	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12686352	0.86[ASN][1000 genomes]
rs12686366	0.86[ASN][1000 genomes]
rs12686500	0.86[ASN][1000 genomes]
rs16905557	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16911801	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16911802	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16911817	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16911820	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16911821	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16911826	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16911846	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1806996	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34330897	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3824493	0.85[ASN][1000 genomes]
rs3847309	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3847310	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3886567	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55654555	0.80[ASN][1000 genomes]
rs55692018	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55719859	0.85[ASN][1000 genomes]
rs55732091	0.80[ASN][1000 genomes]
rs55770541	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55782932	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55791673	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55793565	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55795857	0.86[ASN][1000 genomes]
rs55814456	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55884189	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55885575	0.86[ASN][1000 genomes]
rs55920115	0.85[ASN][1000 genomes]
rs55932459	0.86[ASN][1000 genomes]
rs55941337	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55946331	1.00[EUR][1000 genomes]
rs55949944	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55961278	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55999562	0.83[EUR][1000 genomes]
rs56044075	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56048239	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56160214	1.00[ASN][1000 genomes]
rs56191928	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56242694	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56255048	1.00[ASN][1000 genomes]
rs56278112	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56319051	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56328305	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56330504	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57057766	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58297866	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58574914	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59196614	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59440090	0.80[ASN][1000 genomes]
rs6479568	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7019148	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7020933	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7025527	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7037510	0.83[EUR][1000 genomes]
rs7041582	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7045005	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72746511	1.00[EUR][1000 genomes]
rs72746517	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72746519	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72746526	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72746527	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72746532	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72746534	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72746536	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72746541	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72746543	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72746550	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72746556	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72746558	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72746559	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72746560	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72746561	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72746562	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72746567	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72746568	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72746570	0.86[ASN][1000 genomes]
rs72746573	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72746574	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72746588	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72746590	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72746593	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72746594	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72746599	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72747010	1.00[EUR][1000 genomes]
rs72747015	1.00[EUR][1000 genomes]
rs72747018	1.00[EUR][1000 genomes]
rs72747021	1.00[EUR][1000 genomes]
rs72747023	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72747025	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72747030	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72747035	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72747037	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72747047	1.00[EUR][1000 genomes]
rs72747052	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72747058	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72748511	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72748513	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748515	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748516	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748519	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748526	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748527	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748528	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748529	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748530	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748531	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748533	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748535	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748538	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748539	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748540	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748542	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748544	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748546	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748547	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748548	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748549	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748551	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748553	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748555	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748556	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748557	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748558	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748560	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748561	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72748564	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748565	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748566	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748574	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748577	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748578	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748579	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748582	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748586	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748587	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748590	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748591	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748593	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748594	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748599	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748602	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750304	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750306	1.00[EUR][1000 genomes]
rs72750307	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750308	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750309	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750310	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750312	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750313	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750317	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750322	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750323	1.00[EUR][1000 genomes]
rs72750324	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750325	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750326	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72750327	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750328	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750329	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750332	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750334	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750337	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750338	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750339	1.00[EUR][1000 genomes]
rs72750343	0.86[ASN][1000 genomes]
rs72750345	0.86[ASN][1000 genomes]
rs72750347	0.86[ASN][1000 genomes]
rs72750348	0.86[ASN][1000 genomes]
rs72750349	0.86[ASN][1000 genomes]
rs72750353	0.86[ASN][1000 genomes]
rs72750354	0.86[ASN][1000 genomes]
rs72750355	0.86[ASN][1000 genomes]
rs72750356	0.86[ASN][1000 genomes]
rs72750360	0.86[ASN][1000 genomes]
rs72750361	0.86[ASN][1000 genomes]
rs72750362	0.86[ASN][1000 genomes]
rs72750363	0.86[ASN][1000 genomes]
rs72750368	0.86[ASN][1000 genomes]
rs72750372	0.86[ASN][1000 genomes]
rs72750380	0.86[ASN][1000 genomes]
rs72750381	0.86[ASN][1000 genomes]
rs72750382	0.80[ASN][1000 genomes]
rs72750384	0.80[ASN][1000 genomes]
rs72750387	0.80[ASN][1000 genomes]
rs7465900	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7848054	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7850601	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7850680	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7864706	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7867380	1.00[EUR][1000 genomes];1.00[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	nsv933919	chr9:97619512-97919344	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	293 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97633400-97671800	Weak transcription	Esophagus	oesophagus
2	chr9:97638600-97661800	Weak transcription	Fetal Intestine Small	intestine
3	chr9:97641000-97648600	Enhancers	Fetal Heart	heart
4	chr9:97641000-97650000	Weak transcription	Brain Angular Gyrus	brain
5	chr9:97642800-97648800	Enhancers	Fetal Lung	lung
6	chr9:97644400-97652000	Weak transcription	Right Atrium	heart
7	chr9:97645400-97648600	Enhancers	HSMMtube	muscle
8	chr9:97645600-97653200	Weak transcription	Fetal Brain Male	brain
9	chr9:97646400-97649800	Weak transcription	Aorta	Aorta
10	chr9:97646600-97649800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr9:97646800-97648600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr9:97646800-97648800	Enhancers	Stomach Mucosa	stomach
13	chr9:97647200-97648600	Enhancers	Pancreas	Pancrea
14	chr9:97647400-97648600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr9:97647400-97648600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr9:97647400-97648600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr9:97647400-97648600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr9:97647400-97648600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr9:97647400-97648600	Enhancers	HepG2	liver
20	chr9:97647400-97648800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr9:97647400-97648800	Enhancers	HMEC	breast
22	chr9:97647400-97648800	Enhancers	HSMM	muscle
23	chr9:97647400-97649000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr9:97647600-97648600	Enhancers	NHEK	skin
25	chr9:97647800-97648600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr9:97647800-97648600	Enhancers	Liver	Liver
27	chr9:97647800-97648600	Enhancers	Placenta Amnion	Placenta Amnion
28	chr9:97647800-97648600	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr9:97647800-97649800	Enhancers	A549	lung
30	chr9:97648000-97649800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr9:97648000-97649800	Weak transcription	Brain Anterior Caudate	brain
32	chr9:97648000-97649800	Weak transcription	Gastric	stomach
33	chr9:97648000-97649800	Weak transcription	Hela-S3	cervix
34	chr9:97648000-97652800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr9:97648000-97652800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr9:97648000-97657400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr9:97648200-97648600	Enhancers	Brain Hippocampus Middle	brain
38	chr9:97648200-97649800	Weak transcription	NHDF-Ad	bronchial
39	chr9:97648200-97650200	Weak transcription	NHLF	lung
40	chr9:97648400-97649800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr9:97648400-97649800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr9:97648400-97649800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr9:97648400-97649800	Weak transcription	Brain Substantia Nigra	brain
44	chr9:97648400-97649800	Weak transcription	Osteobl	bone
45	chr9:97648400-97653000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr9:97648400-97656400	Weak transcription	NH-A	brain
47	chr9:97648400-97657400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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