Variant report

Variant	rs72754444
Chromosome Location	chr9:95297591-95297592
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:95289634..95294322-chr9:95294432..95297818,7	K562	blood:

Variant related genes	Relation type
ENSG00000264158	Chromatin interaction

Extended variants
information (count: 164 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:160)

rs_ID	r²[population]
rs17365144	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17366134	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17462606	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17519320	0.95[ASN][1000 genomes]
rs17519397	0.95[ASN][1000 genomes]
rs17519453	0.81[ASN][1000 genomes]
rs17519719	0.95[ASN][1000 genomes]
rs17519922	0.95[ASN][1000 genomes]
rs17591007	0.90[ASN][1000 genomes]
rs17591372	0.95[ASN][1000 genomes]
rs17591776	0.95[ASN][1000 genomes]
rs17591958	0.95[ASN][1000 genomes]
rs17592026	0.95[ASN][1000 genomes]
rs2236529	0.90[ASN][1000 genomes]
rs2277165	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2277167	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2277170	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34758505	0.89[ASN][1000 genomes]
rs34860658	0.81[ASN][1000 genomes]
rs3758228	0.90[ASN][1000 genomes]
rs3780348	0.95[ASN][1000 genomes]
rs3780349	0.90[ASN][1000 genomes]
rs3802383	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41266685	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs41273374	0.92[EUR][1000 genomes]
rs41278699	0.95[ASN][1000 genomes]
rs41301527	0.90[ASN][1000 genomes]
rs41305495	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41312236	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752442	0.85[ASN][1000 genomes]
rs72752443	0.85[ASN][1000 genomes]
rs72752444	0.85[ASN][1000 genomes]
rs72752445	0.90[ASN][1000 genomes]
rs72752446	0.90[ASN][1000 genomes]
rs72752449	0.90[ASN][1000 genomes]
rs72752453	0.90[ASN][1000 genomes]
rs72752454	0.90[ASN][1000 genomes]
rs72752457	0.90[ASN][1000 genomes]
rs72752458	0.90[ASN][1000 genomes]
rs72752460	0.90[ASN][1000 genomes]
rs72752463	0.90[ASN][1000 genomes]
rs72752469	0.90[ASN][1000 genomes]
rs72752471	0.95[ASN][1000 genomes]
rs72752472	0.95[ASN][1000 genomes]
rs72752474	0.81[ASN][1000 genomes]
rs72752475	0.90[ASN][1000 genomes]
rs72752477	0.90[ASN][1000 genomes]
rs72752479	0.90[ASN][1000 genomes]
rs72752482	0.90[ASN][1000 genomes]
rs72752483	0.90[ASN][1000 genomes]
rs72752484	0.95[ASN][1000 genomes]
rs72752485	0.95[ASN][1000 genomes]
rs72752486	0.95[ASN][1000 genomes]
rs72752492	0.95[ASN][1000 genomes]
rs72752493	0.95[ASN][1000 genomes]
rs72752497	0.95[ASN][1000 genomes]
rs72752502	0.95[ASN][1000 genomes]
rs72754403	0.95[ASN][1000 genomes]
rs72754404	0.95[ASN][1000 genomes]
rs72754408	0.95[ASN][1000 genomes]
rs72754410	0.95[ASN][1000 genomes]
rs72754411	0.95[ASN][1000 genomes]
rs72754415	0.95[ASN][1000 genomes]
rs72754418	0.95[ASN][1000 genomes]
rs72754420	0.95[ASN][1000 genomes]
rs72754421	0.95[ASN][1000 genomes]
rs72754423	0.95[ASN][1000 genomes]
rs72754425	0.95[ASN][1000 genomes]
rs72754429	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72754430	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72754433	1.00[AMR][1000 genomes]
rs72754434	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754435	1.00[AMR][1000 genomes]
rs72754436	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72754437	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754440	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754442	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754443	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754445	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754446	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754447	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72754450	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754452	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754457	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754461	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754463	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754464	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72754465	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754470	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754477	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754480	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72754482	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754483	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754485	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72754487	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72754489	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754491	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754493	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72754496	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72754499	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754501	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72756403	0.92[AMR][1000 genomes]
rs72756404	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72756405	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72756406	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72756408	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72756410	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72756414	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72756415	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72756416	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72756418	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72756423	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72756424	0.92[AMR][1000 genomes]
rs72756425	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72756426	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72756427	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72756431	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72756433	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72756437	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72756438	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72756440	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72756441	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72756442	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72756443	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72756444	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72756446	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72756447	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72756448	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72756452	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72756455	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72756457	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72756458	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72756459	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72756460	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72756462	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72756464	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72756465	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72756467	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72756468	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72756469	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72756471	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72756472	0.83[ASN][1000 genomes]
rs72756478	0.92[EUR][1000 genomes]
rs72756483	0.92[EUR][1000 genomes]
rs72756486	0.92[EUR][1000 genomes]
rs72756489	0.92[EUR][1000 genomes]
rs72756497	0.92[EUR][1000 genomes]
rs72756498	0.92[EUR][1000 genomes]
rs72756500	0.92[EUR][1000 genomes]
rs72758504	0.92[EUR][1000 genomes]
rs72758505	0.92[EUR][1000 genomes]
rs72758508	0.92[EUR][1000 genomes]
rs72758519	0.92[EUR][1000 genomes]
rs72758524	0.92[EUR][1000 genomes]
rs72758525	0.92[EUR][1000 genomes]
rs72758536	0.88[EUR][1000 genomes]
rs72758539	0.84[EUR][1000 genomes]
rs72758540	0.84[EUR][1000 genomes]
rs72758542	0.84[EUR][1000 genomes]
rs72758543	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv893573	chr9:94974188-95355719	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1047337	chr9:95105638-95347484	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1052846	chr9:95291909-95366109	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95269800-95298800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr9:95294800-95301200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr9:95296000-95301800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr9:95296400-95297600	Active TSS	Brain Substantia Nigra	brain
5	chr9:95296400-95297600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr9:95296400-95297800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr9:95296400-95299600	Enhancers	HepG2	liver
8	chr9:95296600-95297800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr9:95296600-95298800	Active TSS	Stomach Smooth Muscle	stomach
10	chr9:95296600-95299000	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr9:95296800-95297600	Flanking Active TSS	NHDF-Ad	bronchial
12	chr9:95296800-95297600	Flanking Active TSS	Osteobl	bone
13	chr9:95296800-95298000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr9:95296800-95298800	Active TSS	Rectal Smooth Muscle	rectum
15	chr9:95297000-95297600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr9:95297000-95299200	Active TSS	Right Atrium	heart
17	chr9:95297200-95297600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr9:95297200-95297600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr9:95297200-95298200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:95297200-95301000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr9:95297400-95297600	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr9:95297400-95297600	Active TSS	Liver	Liver
23	chr9:95297400-95297800	Enhancers	Duodenum Mucosa	Duodenum
24	chr9:95297400-95298000	Enhancers	Fetal Intestine Large	intestine
25	chr9:95297400-95298200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr9:95297400-95298200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr9:95297400-95298200	Weak transcription	Aorta	Aorta
28	chr9:95297400-95298200	Weak transcription	Brain Anterior Caudate	brain
29	chr9:95297400-95298200	Weak transcription	Brain Hippocampus Middle	brain
30	chr9:95297400-95298200	Weak transcription	Fetal Intestine Small	intestine
31	chr9:95297400-95298400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr9:95297400-95298400	Weak transcription	Colon Smooth Muscle	Colon
33	chr9:95297400-95298400	Active TSS	Fetal Kidney	kidney
34	chr9:95297400-95298400	Weak transcription	Fetal Stomach	stomach
35	chr9:95297400-95298400	Weak transcription	Psoas Muscle	Psoas
36	chr9:95297400-95298400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr9:95297400-95298400	Weak transcription	Stomach Mucosa	stomach
38	chr9:95297400-95298400	Enhancers	GM12878-XiMat	blood
39	chr9:95297400-95298400	Weak transcription	HSMMtube	muscle
40	chr9:95297400-95298600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr9:95297400-95298800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr9:95297400-95298800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr9:95297400-95298800	Active TSS	Fetal Muscle Leg	muscle
44	chr9:95297400-95298800	Active TSS	NHLF	lung
45	chr9:95297400-95299000	Active TSS	Adipose Nuclei	Adipose
46	chr9:95297400-95299200	Active TSS	Fetal Lung	lung
47	chr9:95297400-95299200	Active TSS	Ovary	ovary
48	chr9:95297400-95299400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr9:95297400-95300000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr9:95297400-95300000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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