Variant report

Variant	rs56048239
Chromosome Location	chr9:97663590-97663591
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:97655373..97657795-chr9:97662890..97664945,2	MCF-7	breast:
2	chr9:97629113..97631715-chr9:97662982..97664521,2	MCF-7	breast:
3	chr9:97663421..97665287-chr9:97685547..97688142,2	MCF-7	breast:
4	chr9:97663154..97665025-chr9:97680451..97683627,3	MCF-7	breast:

Variant related genes	Relation type
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[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[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12684470	1.00[AFR][1000 genomes];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[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[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16911801	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16911802	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16911817	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16911820	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16911821	1.00[AFR][1000 genomes];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[AFR][1000 genomes];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]
rs56160214	1.00[ASN][1000 genomes]
rs56191928	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56242694	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	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	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58574914	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59196614	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	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748544	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748546	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748547	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748548	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748549	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748550	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748551	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748553	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748555	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748556	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748557	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748558	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748560	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748561	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72748564	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748565	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748566	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[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748579	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748582	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748586	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748587	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748590	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748591	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748593	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748594	1.00[AFR][1000 genomes];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:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97633400-97671800	Weak transcription	Esophagus	oesophagus
2	chr9:97655800-97668400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:97656400-97669000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:97657000-97663800	Weak transcription	Stomach Mucosa	stomach
5	chr9:97658800-97668400	Weak transcription	Pancreas	Pancrea
6	chr9:97660800-97702400	Weak transcription	Primary B cells from cord blood	blood
7	chr9:97661000-97666000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr9:97661600-97686200	Weak transcription	Primary T cells from cord blood	blood
9	chr9:97661800-97665200	Flanking Active TSS	A549	lung
10	chr9:97662200-97663800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr9:97662200-97663800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr9:97662200-97665200	Enhancers	Placenta Amnion	Placenta Amnion
13	chr9:97662400-97663800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr9:97662400-97664200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr9:97662400-97664200	Enhancers	Fetal Brain Male	brain
16	chr9:97662400-97664800	Enhancers	Brain Angular Gyrus	brain
17	chr9:97662400-97664800	Enhancers	Brain Cingulate Gyrus	brain
18	chr9:97662400-97665000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr9:97662400-97665000	Enhancers	HMEC	breast
20	chr9:97662400-97665200	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr9:97662400-97665600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr9:97662400-97666200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr9:97662400-97678600	Enhancers	Brain Substantia Nigra	brain
24	chr9:97662600-97663600	Enhancers	Fetal Stomach	stomach
25	chr9:97662600-97664000	Weak transcription	Psoas Muscle	Psoas
26	chr9:97662600-97669600	Weak transcription	Right Atrium	heart
27	chr9:97662600-97670000	Weak transcription	Fetal Intestine Small	intestine
28	chr9:97662600-97680400	Enhancers	Brain Hippocampus Middle	brain
29	chr9:97662800-97663800	Weak transcription	Placenta	Placenta
30	chr9:97662800-97664200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr9:97662800-97664800	Enhancers	Rectal Smooth Muscle	rectum
32	chr9:97662800-97665400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr9:97662800-97669200	Weak transcription	Lung	lung
34	chr9:97662800-97670000	Weak transcription	Fetal Intestine Large	intestine
35	chr9:97663000-97663800	Enhancers	Adipose Nuclei	Adipose
36	chr9:97663000-97664400	Enhancers	Colon Smooth Muscle	Colon
37	chr9:97663200-97663600	Enhancers	Stomach Smooth Muscle	stomach
38	chr9:97663200-97664200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr9:97663200-97664200	Weak transcription	Brain Anterior Caudate	brain
40	chr9:97663200-97664200	Enhancers	HSMM	muscle
41	chr9:97663200-97664400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr9:97663200-97664400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr9:97663200-97664800	Enhancers	Ovary	ovary
44	chr9:97663200-97664800	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr9:97663200-97665000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr9:97663200-97665200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr9:97663200-97665400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr9:97663200-97666600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr9:97663400-97663600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr9:97663400-97663600	Flanking Active TSS	HSMMtube	muscle

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