Variant report

Variant	rs72855680
Chromosome Location	chr11:9985756-9985757
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9482450..9484248-chr11:9984519..9986171,2	K562	blood:

Variant related genes	Relation type
ENSG00000166478	Chromatin interaction

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs11608212	1.00[ASN][1000 genomes]
rs12098983	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12274440	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17271223	1.00[ASN][1000 genomes]
rs17271623	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17272133	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17292774	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17355751	1.00[ASN][1000 genomes]
rs17356069	1.00[ASN][1000 genomes]
rs17356237	1.00[ASN][1000 genomes]
rs17356369	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17358721	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17358882	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17359382	1.00[ASN][1000 genomes]
rs4910071	1.00[ASN][1000 genomes]
rs55811615	1.00[ASN][1000 genomes]
rs56067762	1.00[ASN][1000 genomes]
rs61876910	1.00[ASN][1000 genomes]
rs61876915	1.00[ASN][1000 genomes]
rs61876922	1.00[ASN][1000 genomes]
rs61876923	1.00[ASN][1000 genomes]
rs61876926	1.00[ASN][1000 genomes]
rs61876927	1.00[ASN][1000 genomes]
rs61876942	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61876945	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61876948	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61876949	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61876951	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61876972	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61876973	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61876974	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61876975	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61876976	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61876977	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61876978	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61876980	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61876982	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61876983	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61876984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877004	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877005	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877038	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61877039	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877042	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61877044	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61877046	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877050	1.00[ASN][1000 genomes]
rs61877054	1.00[ASN][1000 genomes]
rs61877264	1.00[ASN][1000 genomes]
rs61878586	1.00[ASN][1000 genomes]
rs61878652	0.80[AMR][1000 genomes]
rs61878654	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61878655	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61878657	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61878658	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61878659	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61880160	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61889956	0.80[AMR][1000 genomes]
rs6483792	1.00[ASN][1000 genomes]
rs6483859	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66536570	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66553354	1.00[ASN][1000 genomes]
rs7104591	1.00[ASN][1000 genomes]
rs7105355	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7108187	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7109648	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7110027	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7117364	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7118211	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7118427	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7120043	1.00[ASN][1000 genomes]
rs7120403	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7122370	1.00[ASN][1000 genomes]
rs7123467	0.80[AMR][1000 genomes]
rs7123546	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7129274	1.00[ASN][1000 genomes]
rs7130478	1.00[ASN][1000 genomes]
rs7131546	1.00[ASN][1000 genomes]
rs72854502	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72855652	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72857108	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72858820	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72858863	1.00[ASN][1000 genomes]
rs72858902	1.00[ASN][1000 genomes]
rs7342224	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7928664	1.00[ASN][1000 genomes]
rs7935235	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7935610	1.00[ASN][1000 genomes]
rs7936602	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7938570	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7938773	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7939096	1.00[ASN][1000 genomes]
rs7939269	1.00[ASN][1000 genomes]
rs7942807	1.00[ASN][1000 genomes]
rs7945309	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7949110	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7949493	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7952455	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9666488	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][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	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv896988	chr11:9912052-10012511	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv896989	chr11:9951968-10059623	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	esv1819684	chr11:9973062-10012511	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9952800-9995200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:9973000-9986000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:9973800-10010600	Weak transcription	Fetal Brain Male	brain
4	chr11:9974200-9994400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr11:9974200-9994600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:9974200-9994800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr11:9974200-9999000	Weak transcription	Fetal Heart	heart
8	chr11:9974200-9999000	Weak transcription	HSMMtube	muscle
9	chr11:9977000-9994400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr11:9978600-9986000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:9979400-9986000	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr11:9979400-9995000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr11:9979600-9985800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:9979600-9994600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr11:9979800-9987400	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr11:9979800-9999200	Weak transcription	NH-A	brain
17	chr11:9980200-9985800	Strong transcription	Liver	Liver
18	chr11:9980200-9985800	Strong transcription	Placenta	Placenta
19	chr11:9980200-9986000	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr11:9981000-10020000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr11:9981200-9988400	Weak transcription	HMEC	breast
22	chr11:9981200-9990000	Weak transcription	A549	lung
23	chr11:9981200-9990600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr11:9981200-9995000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:9981200-10004200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:9981200-10009200	Weak transcription	Brain Germinal Matrix	brain
27	chr11:9981400-9986600	Weak transcription	Pancreas	Pancrea
28	chr11:9981400-9987000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr11:9981400-9989000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:9981400-9989000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:9981400-9989600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr11:9981400-9990600	Weak transcription	Colon Smooth Muscle	Colon
33	chr11:9981400-9990600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr11:9981400-9992200	Weak transcription	Brain Substantia Nigra	brain
35	chr11:9981400-9993400	Weak transcription	Spleen	Spleen
36	chr11:9981400-9994400	Weak transcription	HUVEC	blood vessel
37	chr11:9981400-9994600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr11:9981400-9994600	Weak transcription	NHLF	lung
39	chr11:9981400-9994800	Weak transcription	Brain Hippocampus Middle	brain
40	chr11:9981400-9995200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:9981400-9995200	Weak transcription	Brain Angular Gyrus	brain
42	chr11:9981400-9995400	Weak transcription	Right Ventricle	heart
43	chr11:9981400-9999000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr11:9981400-10002200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:9981400-10003400	Weak transcription	Brain Anterior Caudate	brain
46	chr11:9981400-10003400	Weak transcription	NHEK	skin
47	chr11:9981400-10003600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr11:9981400-10004200	Weak transcription	Esophagus	oesophagus
49	chr11:9981400-10004200	Weak transcription	Lung	lung
50	chr11:9981400-10004400	Weak transcription	HepG2	liver

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