Variant report

Variant	rs72750329
Chromosome Location	chr9:97711453-97711454
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:97708335..97709871-chr9:97710175..97712556,2	MCF-7	breast:
2	chr9:97687410..97690571-chr9:97710837..97713862,3	MCF-7	breast:
3	chr9:97711176..97714022-chr9:97766697..97771903,4	MCF-7	breast:
4	chr9:97702032..97704710-chr9:97710037..97711547,2	K562	blood:

Variant related genes	Relation type
ENSG00000148120	Chromatin interaction

Extended variants
information (count: 209 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:207)

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[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[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]
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	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]
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]
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[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]
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:2 , 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
2	nsv1045849	chr9:97688810-97741336	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97670600-97766000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr9:97682000-97713800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr9:97685200-97714600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr9:97687000-97714000	Weak transcription	Thymus	Thymus
5	chr9:97692200-97713000	Weak transcription	Primary T cells from cord blood	blood
6	chr9:97693400-97712600	Weak transcription	Gastric	stomach
7	chr9:97700200-97714600	Weak transcription	Fetal Stomach	stomach
8	chr9:97700200-97718600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr9:97703800-97712400	Weak transcription	Spleen	Spleen
10	chr9:97703800-97713000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr9:97704000-97712400	Weak transcription	Pancreas	Pancrea
12	chr9:97704000-97712600	Weak transcription	Lung	lung
13	chr9:97704000-97713000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr9:97704400-97712800	Weak transcription	Fetal Lung	lung
15	chr9:97704800-97712800	Weak transcription	HUVEC	blood vessel
16	chr9:97705000-97712400	Weak transcription	Liver	Liver
17	chr9:97707000-97713400	Weak transcription	Small Intestine	intestine
18	chr9:97707800-97713200	Enhancers	Aorta	Aorta
19	chr9:97708000-97712400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr9:97708200-97713200	Enhancers	A549	lung
21	chr9:97708400-97712400	Weak transcription	Right Atrium	heart
22	chr9:97708400-97712600	Weak transcription	Fetal Intestine Small	intestine
23	chr9:97708400-97712600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr9:97708400-97712600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr9:97708800-97711600	Weak transcription	HSMMtube	muscle
26	chr9:97708800-97712600	Weak transcription	Stomach Mucosa	stomach
27	chr9:97708800-97713000	Weak transcription	Colonic Mucosa	Colon
28	chr9:97708800-97713000	Weak transcription	Fetal Intestine Large	intestine
29	chr9:97708800-97713000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr9:97708800-97713200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr9:97708800-97713200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr9:97708800-97714000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr9:97708800-97715000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr9:97708800-97720000	Weak transcription	K562	blood
35	chr9:97709000-97712000	Weak transcription	Hela-S3	cervix
36	chr9:97709000-97712600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr9:97709000-97712600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr9:97709000-97712800	Weak transcription	Colon Smooth Muscle	Colon
39	chr9:97709000-97713000	Weak transcription	NH-A	brain
40	chr9:97709200-97712400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr9:97709200-97712600	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr9:97709200-97713400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr9:97709200-97730400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr9:97709600-97713200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr9:97709600-97713600	Enhancers	H1 Cell Line	embryonic stem cell
46	chr9:97709800-97711800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr9:97709800-97713000	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr9:97709800-97713800	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr9:97709800-97713800	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr9:97710000-97711800	Enhancers	Skeletal Muscle Male	skeletal muscle

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