Variant report

Variant	rs11130109
Chromosome Location	chr3:46991854-46991855
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46988980..46994216-chr3:47016439..47022535,7	K562	blood:
2	chr3:46988617..46992704-chr3:46994196..46998366,6	K562	blood:
3	chr3:46987488..46994423-chr3:47016253..47019914,6	MCF-7	breast:
4	chr3:46990736..46992416-chr3:47023933..47026692,2	K562	blood:

Variant related genes	Relation type
ENSG00000160796	Chromatin interaction
ENSG00000160799	Chromatin interaction

Extended variants
information (count: 157 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:148)

rs_ID	r²[population]
rs10461017	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10461019	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10865945	1.00[EUR][1000 genomes]
rs11130108	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11706212	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11708257	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11709693	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11709876	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11713537	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11922925	1.00[EUR][1000 genomes]
rs11928558	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12330516	1.00[EUR][1000 genomes]
rs12487763	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12488371	1.00[EUR][1000 genomes]
rs13062185	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13062516	0.89[AFR][1000 genomes]
rs13074884	0.87[AFR][1000 genomes]
rs13078181	1.00[EUR][1000 genomes]
rs13079416	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13082531	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13323092	1.00[EUR][1000 genomes]
rs1378818	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1463394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1466272	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1466273	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1466274	0.89[AMR][1000 genomes]
rs1473382	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1473384	1.00[EUR][1000 genomes]
rs1473385	1.00[EUR][1000 genomes]
rs1563431	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1563432	1.00[EUR][1000 genomes]
rs1814564	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1869870	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1979736	1.00[EUR][1000 genomes]
rs2124509	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2124510	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2350642	1.00[EUR][1000 genomes]
rs2385863	1.00[EUR][1000 genomes]
rs2385868	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2385869	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28735306	1.00[EUR][1000 genomes]
rs2891887	1.00[AMR][1000 genomes]
rs2891893	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs34147581	1.00[EUR][1000 genomes]
rs35366910	1.00[EUR][1000 genomes]
rs4018904	1.00[EUR][1000 genomes]
rs4282092	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4289375	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4324490	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4373094	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4378998	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4389512	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4450857	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4478107	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4522803	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4525902	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4543047	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4682828	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4682832	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4682833	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4682834	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4682835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4682836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4682838	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4682840	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4682841	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4682843	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4682846	1.00[EUR][1000 genomes]
rs4682847	1.00[EUR][1000 genomes]
rs4683277	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683279	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683283	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683284	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683285	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683286	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683288	1.00[EUR][1000 genomes]
rs4683289	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683290	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683291	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683292	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683293	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683303	1.00[EUR][1000 genomes]
rs6442041	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442042	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442043	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442047	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442048	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442050	0.81[AFR][1000 genomes]
rs6442062	1.00[EUR][1000 genomes]
rs6442063	1.00[EUR][1000 genomes]
rs6766676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6767868	1.00[EUR][1000 genomes]
rs6768169	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6775797	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6780994	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6785462	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6804732	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6806521	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6808052	1.00[EUR][1000 genomes]
rs6808117	1.00[EUR][1000 genomes]
rs6808629	1.00[EUR][1000 genomes]
rs6809904	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73831482	1.00[EUR][1000 genomes]
rs7615774	1.00[EUR][1000 genomes]
rs7621530	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7624549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7625011	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7627241	0.85[AFR][1000 genomes]
rs7630154	1.00[EUR][1000 genomes]
rs7630904	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7638549	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7641494	1.00[EUR][1000 genomes]
rs7643868	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7644382	1.00[EUR][1000 genomes]
rs7646076	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7649941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7650142	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7652492	1.00[EUR][1000 genomes]
rs936173	1.00[EUR][1000 genomes]
rs936177	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs936178	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs936179	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs936180	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs936181	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs936182	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs936185	1.00[EUR][1000 genomes]
rs936186	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9810881	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9812407	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9819344	1.00[EUR][1000 genomes]
rs9819475	1.00[EUR][1000 genomes]
rs9823480	1.00[EUR][1000 genomes]
rs9826488	1.00[EUR][1000 genomes]
rs9827293	1.00[EUR][1000 genomes]
rs9828473	1.00[EUR][1000 genomes]
rs9833500	1.00[EUR][1000 genomes]
rs9836801	1.00[EUR][1000 genomes]
rs9850151	1.00[EUR][1000 genomes]
rs9852167	1.00[EUR][1000 genomes]
rs9861247	1.00[EUR][1000 genomes]
rs9861265	1.00[EUR][1000 genomes]
rs9862711	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9869489	1.00[EUR][1000 genomes]
rs9878813	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9883152	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9883909	1.00[EUR][1000 genomes]
rs9990284	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv536558	chr3:46706571-47024756	Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv915922	chr3:46768104-47009805	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv876755	chr3:46895109-47061183	Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS 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 target site	25 gene(s)	inside rSNPs	diseases
4	nsv460526	chr3:46935527-47001350	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv3800	chr3:46961648-47007241	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1012682	chr3:46973552-47016357	Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	esv3461834	chr3:46977730-47173228	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	esv3461835	chr3:46977822-47173168	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
9	esv3461836	chr3:46977822-47173168	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 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	chr3:46977000-47000000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:46979600-46994600	Genic enhancers	Fetal Thymus	thymus
3	chr3:46982800-46992600	Enhancers	Left Ventricle	heart
4	chr3:46983000-46992600	Enhancers	Small Intestine	intestine
5	chr3:46983200-46992400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr3:46983600-46992600	Enhancers	Psoas Muscle	Psoas
7	chr3:46983600-46992600	Enhancers	Right Atrium	heart
8	chr3:46983600-46994000	Enhancers	HUVEC	blood vessel
9	chr3:46984200-46996400	Enhancers	Liver	Liver
10	chr3:46985000-46992000	Enhancers	Pancreas	Pancrea
11	chr3:46985000-46992600	Enhancers	Right Ventricle	heart
12	chr3:46985600-46995200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr3:46985800-46994200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr3:46985800-47004400	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr3:46986800-46992600	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr3:46987600-46994800	Enhancers	Fetal Intestine Large	intestine
17	chr3:46988000-46992400	Enhancers	Fetal Heart	heart
18	chr3:46988000-46992600	Enhancers	Placenta	Placenta
19	chr3:46988000-46994200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr3:46988000-47003200	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr3:46988200-46992000	Genic enhancers	Fetal Muscle Leg	muscle
22	chr3:46988200-46992600	Enhancers	Lung	lung
23	chr3:46988400-46994600	Genic enhancers	Dnd41	blood
24	chr3:46988600-46994400	Enhancers	Primary hematopoietic stem cells	blood
25	chr3:46989000-46992600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr3:46989200-46992000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr3:46989200-46992000	Enhancers	Esophagus	oesophagus
28	chr3:46989200-46992600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr3:46989200-46995400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr3:46989600-46992800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr3:46989600-46993200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr3:46989800-46992000	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr3:46989800-46992200	Enhancers	Stomach Mucosa	stomach
34	chr3:46989800-46992800	Enhancers	Primary B cells from cord blood	blood
35	chr3:46989800-46992800	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr3:46989800-46993200	Enhancers	Adipose Nuclei	Adipose
37	chr3:46989800-46993800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr3:46989800-46995200	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr3:46989800-46998600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr3:46989800-47000600	Weak transcription	Brain Germinal Matrix	brain
41	chr3:46989800-47000600	Weak transcription	NHDF-Ad	bronchial
42	chr3:46989800-47001200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr3:46990000-46992600	Enhancers	Spleen	Spleen
44	chr3:46990000-46992800	Enhancers	Primary B cells from peripheral blood	blood
45	chr3:46990000-46995400	Weak transcription	HSMMtube	muscle
46	chr3:46990000-47006800	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr3:46990200-46992000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr3:46990200-46992000	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr3:46990200-46992600	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr3:46990200-46995200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links