Variant report

Variant	rs72748519
Chromosome Location	chr9:97629801-97629802
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:97569515..97571628-chr9:97628537..97630487,2	MCF-7	breast:
2	chr9:97628489..97631594-chr9:97765586..97768215,3	MCF-7	breast:
3	chr9:97627475..97632236-chr9:97687625..97689828,4	MCF-7	breast:
4	chr9:97628270..97630425-chr9:97716400..97718409,2	MCF-7	breast:
5	chr9:97581096..97584507-chr9:97628136..97631162,3	MCF-7	breast:
6	chr9:97613776..97615491-chr9:97629001..97631689,2	MCF-7	breast:
7	chr9:97621507..97626749-chr9:97626893..97633201,8	MCF-7	breast:
8	chr9:97629113..97631715-chr9:97662982..97664521,2	MCF-7	breast:
9	chr9:97580323..97584825-chr9:97627426..97631044,6	MCF-7	breast:
10	chr9:97629078..97631329-chr9:97854502..97856532,2	MCF-7	breast:
11	chr9:97629614..97631229-chr9:97851133..97852675,2	MCF-7	breast:
12	chr9:97623034..97625175-chr9:97628010..97630250,3	K562	blood:
13	chr9:97626766..97634519-chr9:97675095..97684236,17	MCF-7	breast:

No data

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[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]
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	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]
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]
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:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97624200-97632800	Weak transcription	Thymus	Thymus
2	chr9:97624800-97632800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr9:97625000-97630400	Weak transcription	GM12878-XiMat	blood
4	chr9:97625000-97630600	Weak transcription	Pancreas	Pancrea
5	chr9:97625000-97632000	Weak transcription	Primary T cells from cord blood	blood
6	chr9:97625000-97637800	Weak transcription	Primary B cells from cord blood	blood
7	chr9:97625200-97630000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr9:97625200-97631800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr9:97625400-97631800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr9:97625400-97632200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr9:97625600-97632800	Weak transcription	Dnd41	blood
12	chr9:97626000-97630600	Weak transcription	Lung	lung
13	chr9:97626000-97638200	Enhancers	HSMM	muscle
14	chr9:97626000-97638400	Enhancers	HSMMtube	muscle
15	chr9:97626200-97632400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr9:97626400-97630600	Weak transcription	Spleen	Spleen
17	chr9:97626400-97632800	Weak transcription	Right Ventricle	heart
18	chr9:97626600-97631600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr9:97626600-97631600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr9:97626600-97631800	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr9:97626800-97632000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr9:97627000-97630600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr9:97627200-97630200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr9:97627200-97630400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr9:97627200-97631000	Enhancers	Brain Angular Gyrus	brain
26	chr9:97627200-97638000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr9:97627400-97637800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr9:97627600-97630200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr9:97627600-97631200	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr9:97627800-97630200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr9:97627800-97631800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr9:97628000-97631000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:97628200-97630000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr9:97628200-97631200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr9:97628400-97630400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr9:97628600-97630200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr9:97628600-97630400	Weak transcription	Aorta	Aorta
38	chr9:97628600-97630400	Weak transcription	Gastric	stomach
39	chr9:97628600-97630400	Weak transcription	Psoas Muscle	Psoas
40	chr9:97628600-97630800	Enhancers	Fetal Intestine Large	intestine
41	chr9:97628600-97631000	Enhancers	Liver	Liver
42	chr9:97628600-97631000	Enhancers	Brain Anterior Caudate	brain
43	chr9:97628600-97631000	Enhancers	Fetal Intestine Small	intestine
44	chr9:97628600-97633200	Enhancers	Placenta Amnion	Placenta Amnion
45	chr9:97628600-97641000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr9:97628800-97630800	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr9:97629000-97631000	Flanking Active TSS	Colon Smooth Muscle	Colon
48	chr9:97629000-97632400	Enhancers	Stomach Mucosa	stomach
49	chr9:97629200-97630000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr9:97629200-97630000	Flanking Active TSS	HepG2	liver

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