Variant report

Variant	rs72748594
Chromosome Location	chr9:97673403-97673404
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:97668089..97669647-chr9:97673227..97674945,2	MCF-7	breast:
2	chr9:97572097..97590438-chr9:97672990..97690806,63	MCF-7	breast:
3	chr9:97671639..97694679-chr9:97760418..97786060,142	MCF-7	breast:
4	chr9:97621787..97623596-chr9:97671086..97673869,2	MCF-7	breast:
5	chr9:97666485..97669668-chr9:97669881..97673620,4	MCF-7	breast:
6	chr9:97670509..97672235-chr9:97673084..97674732,2	MCF-7	breast:
7	chr9:97562492..97588737-chr9:97670126..97691056,102	MCF-7	breast:
8	chr9:97672296..97674089-chr9:97674357..97675914,2	MCF-7	breast:
9	chr9:97591718..97593908-chr9:97672689..97674656,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000148120	Chromatin interaction
ENSG00000230815	Chromatin interaction
ENSG00000252153	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]
rs56048239	1.00[AFR][1000 genomes];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	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]
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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97660800-97702400	Weak transcription	Primary B cells from cord blood	blood
2	chr9:97661600-97686200	Weak transcription	Primary T cells from cord blood	blood
3	chr9:97662400-97678600	Enhancers	Brain Substantia Nigra	brain
4	chr9:97662600-97680400	Enhancers	Brain Hippocampus Middle	brain
5	chr9:97664800-97674200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr9:97665200-97674200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr9:97665400-97674200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr9:97666000-97678600	Enhancers	Brain Cingulate Gyrus	brain
9	chr9:97666600-97674400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr9:97667400-97674600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr9:97667800-97675200	Enhancers	Brain Anterior Caudate	brain
12	chr9:97669000-97673600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr9:97669000-97675200	Enhancers	Fetal Lung	lung
14	chr9:97669000-97678200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr9:97669200-97678400	Enhancers	Fetal Heart	heart
16	chr9:97669800-97678200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr9:97670000-97678600	Weak transcription	Fetal Thymus	thymus
18	chr9:97670200-97674800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr9:97670400-97674800	Weak transcription	HUVEC	blood vessel
20	chr9:97670600-97674600	Weak transcription	Left Ventricle	heart
21	chr9:97670600-97676400	Weak transcription	Right Ventricle	heart
22	chr9:97670600-97766000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr9:97670800-97674000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr9:97670800-97674200	Weak transcription	Placenta	Placenta
25	chr9:97670800-97674400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr9:97670800-97674600	Weak transcription	Psoas Muscle	Psoas
27	chr9:97670800-97675000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr9:97670800-97675800	Weak transcription	Fetal Intestine Large	intestine
29	chr9:97670800-97676000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr9:97670800-97676600	Weak transcription	Right Atrium	heart
31	chr9:97670800-97680600	Weak transcription	Ovary	ovary
32	chr9:97671000-97674400	Weak transcription	NHDF-Ad	bronchial
33	chr9:97671000-97674600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr9:97671000-97676400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr9:97671000-97684200	Weak transcription	Small Intestine	intestine
36	chr9:97671200-97673800	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr9:97671400-97674800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr9:97671400-97675600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr9:97671600-97674200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr9:97671600-97675400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr9:97671600-97675600	Weak transcription	Fetal Intestine Small	intestine
42	chr9:97671600-97681600	Weak transcription	Fetal Muscle Leg	muscle
43	chr9:97671800-97673800	Flanking Active TSS	A549	lung
44	chr9:97671800-97675000	Enhancers	Hela-S3	cervix
45	chr9:97671800-97678600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr9:97672200-97674200	Weak transcription	Osteobl	bone
47	chr9:97672200-97674400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr9:97672200-97674400	Weak transcription	NH-A	brain
49	chr9:97672200-97674800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr9:97672400-97673600	Weak transcription	H1 Cell Line	embryonic stem cell

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