Variant report

Variant	rs72750418
Chromosome Location	chr9:94992431-94992432
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94987677..94991575-chr9:94991944..94994722,3	K562	blood:
2	chr9:94991470..94993668-chr9:95052515..95055055,2	K562	blood:
3	chr9:94991849..94993766-chr9:94994920..94996657,2	MCF-7	breast:
4	chr9:94902303..94904677-chr9:94990181..94992841,2	MCF-7	breast:
5	chr9:94986649..94988919-chr9:94991898..94993516,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225511	Chromatin interaction
ENSG00000239183	Chromatin interaction

Extended variants
information (count: 124 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs15717	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16908281	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17518691	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17518754	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17590748	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17591007	0.88[EUR][1000 genomes]
rs17677599	1.00[ASN][1000 genomes]
rs17678735	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2044540	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2230405	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2236343	0.83[EUR][1000 genomes]
rs2236344	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2236529	0.88[EUR][1000 genomes]
rs2273860	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2274967	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28365880	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3736834	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3736836	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3737147	0.83[EUR][1000 genomes]
rs3758228	0.88[EUR][1000 genomes]
rs3758230	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3758231	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3758232	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3780340	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3780341	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3780342	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41276835	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41277647	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41277739	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs41280223	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41297183	0.88[EUR][1000 genomes]
rs41301527	0.88[EUR][1000 genomes]
rs41307467	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41312230	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4298540	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59083571	0.83[EUR][1000 genomes]
rs59627747	0.88[EUR][1000 genomes]
rs61742574	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67546506	0.83[EUR][1000 genomes]
rs72750403	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750404	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750405	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750407	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750408	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750409	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750419	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750420	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750421	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750422	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750426	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750427	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750430	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750431	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750432	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750433	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750434	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750437	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750438	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72750441	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750445	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750447	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750448	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750449	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750450	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750451	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750454	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750456	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750457	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750458	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750463	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750465	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750466	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750468	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750469	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750472	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750474	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750477	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750478	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750479	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750482	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750483	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750485	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750487	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750490	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72750491	0.90[ASN][1000 genomes]
rs72750493	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72750494	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72750496	0.83[EUR][1000 genomes]
rs72750498	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72750500	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72750501	0.88[EUR][1000 genomes]
rs72750502	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72752403	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72752404	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72752405	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72752406	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72752411	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72752417	0.83[EUR][1000 genomes]
rs72752419	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72752422	0.83[EUR][1000 genomes]
rs72752425	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72752427	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72752431	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72752435	0.83[EUR][1000 genomes]
rs72752442	0.88[EUR][1000 genomes]
rs72752443	0.88[EUR][1000 genomes]
rs72752444	0.88[EUR][1000 genomes]
rs72752445	0.88[EUR][1000 genomes]
rs72752446	0.88[EUR][1000 genomes]
rs72752449	0.88[EUR][1000 genomes]
rs72752453	0.88[EUR][1000 genomes]
rs72752454	0.88[EUR][1000 genomes]
rs72752457	0.88[EUR][1000 genomes]
rs72752458	0.88[EUR][1000 genomes]
rs72752460	0.88[EUR][1000 genomes]
rs72752463	0.88[EUR][1000 genomes]
rs7872423	0.83[EUR][1000 genomes]
rs921122	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	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
3	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530947	chr9:94697309-95093377	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers 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	49 gene(s)	inside rSNPs	diseases
5	nsv917089	chr9:94857047-95099848	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94974000-94999000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:94982800-94993000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr9:94982800-94993800	Strong transcription	Fetal Muscle Trunk	muscle
4	chr9:94982800-95038400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr9:94982800-95045600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr9:94983200-94992600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr9:94984000-95012400	Weak transcription	Stomach Mucosa	stomach
8	chr9:94985200-95001000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr9:94986000-95000600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr9:94988400-95000800	Weak transcription	Aorta	Aorta
11	chr9:94988800-95000400	Weak transcription	Fetal Heart	heart
12	chr9:94990000-94993400	Strong transcription	Brain Anterior Caudate	brain
13	chr9:94990200-94993600	Strong transcription	Adipose Nuclei	Adipose
14	chr9:94990200-94993600	Strong transcription	HepG2	liver
15	chr9:94990200-95003200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr9:94990200-95003200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr9:94990200-95004200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr9:94990200-95054000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr9:94990400-94992600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr9:94990400-94992600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr9:94990400-94992600	Strong transcription	Fetal Intestine Large	intestine
22	chr9:94990400-94993200	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr9:94990400-94993200	Strong transcription	K562	blood
24	chr9:94990400-94993200	Strong transcription	NHEK	skin
25	chr9:94990400-94993400	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr9:94990400-94993600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr9:94990400-94993600	Strong transcription	A549	lung
28	chr9:94990400-94994000	Strong transcription	Psoas Muscle	Psoas
29	chr9:94990400-94995800	Strong transcription	Primary B cells from cord blood	blood
30	chr9:94990400-94997800	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr9:94990400-95004000	Strong transcription	Osteobl	bone
32	chr9:94990400-95004200	Strong transcription	NH-A	brain
33	chr9:94990400-95038200	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr9:94990600-94992600	Strong transcription	HSMMtube	muscle
35	chr9:94990600-94994800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr9:94990600-94997600	Strong transcription	HSMM	muscle
37	chr9:94990600-95004000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr9:94991000-94993000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr9:94991000-94996800	Weak transcription	Esophagus	oesophagus
40	chr9:94991000-95000400	Weak transcription	Colonic Mucosa	Colon
41	chr9:94991000-95007000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr9:94991200-94992600	Weak transcription	Fetal Intestine Small	intestine
43	chr9:94991200-94993400	Strong transcription	Liver	Liver
44	chr9:94991200-94993800	Strong transcription	Primary hematopoietic stem cells	blood
45	chr9:94991200-94996000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr9:94991200-94996000	Weak transcription	Fetal Stomach	stomach
47	chr9:94991200-94996600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr9:94991200-94996800	Weak transcription	Spleen	Spleen
49	chr9:94991200-95000400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr9:94991200-95000400	Weak transcription	Pancreas	Pancrea

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