Variant report

Variant	nsv555228
Chromosome Location	chr11:66706842-66714426
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr11:66713600-66713844	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr11:66713634-66713816	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr11:66713583-66713852	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr11:66713552-66713770	MCF10A-Er-Src	breast:	n/a	n/a
5	JUND	chr11:66713594-66713828	K562	blood:	n/a	n/a
6	MYC	chr11:66708327-66708505	MCF-7	breast:	n/a	n/a
7	POLR2A	chr11:66708371-66708428	ProgFib	skin:	n/a	n/a
8	POLR2A	chr11:66712213-66712416	Hela-S3	cervix:	n/a	n/a
9	STAT3	chr11:66707724-66707772	MCF10A-Er-Src	breast:	n/a	n/a
10	TAL1	chr11:66713591-66713835	K562	blood:	n/a	n/a
11	TBL1XR1	chr11:66708778-66708823	K562	blood:	n/a	n/a
12	ZNF384	chr11:66707616-66707756	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66705136..66707640-chr11:66724736..66727418,2	K562	blood:
2	chr11:66696153..66697821-chr11:66705845..66707823,2	K562	blood:
3	chr11:66706242..66707794-chr11:66717409..66719183,2	K562	blood:
4	chr11:66712628..66714524-chr11:66717181..66719524,2	K562	blood:
5	chr11:66712201..66714524-chr11:66716191..66718681,3	K562	blood:
6	chr11:66706455..66708855-chr11:66714725..66717301,2	K562	blood:
7	chr11:66712970..66715747-chr11:66721336..66723431,2	K562	blood:
8	chr11:66705136..66707446-chr11:66725205..66727418,2	K562	blood:

No data

Variant related genes	Relation type
MIR3163	TF binding region
ENSG00000173599	chromatin interactions

Extended variants
information (count: 299 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:299 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4930397	chr11:66706842-66706843	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs11393123	chr11:66706853-66706854	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs397686326	chr11:66706859-66706860	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs565237037	chr11:66706907-66706908	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs147806072	chr11:66706915-66706916	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs532711165	chr11:66706987-66706988	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs553542477	chr11:66707028-66707029	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs573716019	chr11:66707046-66707047	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs191256453	chr11:66707091-66707092	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs549685609	chr11:66707094-66707095	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs555955772	chr11:66707105-66707106	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs527369015	chr11:66707144-66707145	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs571259093	chr11:66707167-66707168	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs141747865	chr11:66707168-66707169	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs532380534	chr11:66707183-66707184	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs374606284	chr11:66707185-66707186	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs145600144	chr11:66707200-66707201	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs578249250	chr11:66707233-66707234	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs540867560	chr11:66707291-66707292	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs560676298	chr11:66707292-66707293	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs56761659	chr11:66707297-66707298	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs376669649	chr11:66707305-66707306	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs371330790	chr11:66707308-66707309	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs201971134	chr11:66707315-66707316	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs529439239	chr11:66707316-66707317	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs374549577	chr11:66707318-66707319	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs377417422	chr11:66707326-66707327	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs547427952	chr11:66707359-66707360	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs367585414	chr11:66707413-66707414	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs147722276	chr11:66707432-66707433	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs531760761	chr11:66707443-66707444	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs371860580	chr11:66707517-66707518	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs551360839	chr11:66707540-66707541	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs571250739	chr11:66707559-66707560	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs149210467	chr11:66707560-66707561	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs547240959	chr11:66707593-66707594	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs377222234	chr11:66707632-66707633	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs144463616	chr11:66707671-66707672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182401611	chr11:66707725-66707726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186665519	chr11:66707727-66707728	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143401192	chr11:66707806-66707807	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556255748	chr11:66707814-66707815	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576034706	chr11:66707815-66707816	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs117285817	chr11:66707826-66707827	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114580351	chr11:66707848-66707849	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191468319	chr11:66707923-66707924	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs117226103	chr11:66707984-66707985	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560590916	chr11:66707986-66707987	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs117559792	chr11:66707995-66707996	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542832547	chr11:66708078-66708079	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	19153074	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66689200-66719400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr11:66689600-66707600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:66694400-66718000	Weak transcription	Brain Hippocampus Middle	brain
4	chr11:66696800-66717600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:66696800-66717600	Weak transcription	NHDF-Ad	bronchial
6	chr11:66701200-66712400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr11:66701200-66724200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr11:66701600-66717600	Weak transcription	Brain Anterior Caudate	brain
9	chr11:66701800-66717600	Weak transcription	HSMMtube	muscle
10	chr11:66701800-66719600	Weak transcription	Brain Substantia Nigra	brain
11	chr11:66702600-66717600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr11:66702600-66717600	Weak transcription	Gastric	stomach
13	chr11:66702800-66717600	Weak transcription	NHEK	skin
14	chr11:66702800-66718200	Weak transcription	Fetal Brain Female	brain
15	chr11:66702800-66723600	Weak transcription	Brain Angular Gyrus	brain
16	chr11:66703000-66717400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:66703000-66717800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:66703200-66708600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr11:66703200-66709800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr11:66703200-66717400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:66703200-66718400	Weak transcription	Ovary	ovary
22	chr11:66703400-66714200	Weak transcription	Adipose Nuclei	Adipose
23	chr11:66703400-66717400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:66703600-66707400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:66703800-66714000	Weak transcription	Osteobl	bone
26	chr11:66704200-66717400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:66704200-66717600	Weak transcription	NHLF	lung
28	chr11:66704400-66708600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:66704400-66710000	Weak transcription	Liver	Liver
30	chr11:66704400-66717400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr11:66704400-66717600	Weak transcription	HepG2	liver
32	chr11:66704600-66707800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:66704800-66707600	Enhancers	Hela-S3	cervix
34	chr11:66704800-66709600	Weak transcription	Right Ventricle	heart
35	chr11:66705000-66717400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:66705000-66717600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:66705000-66717600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:66705200-66713600	Weak transcription	A549	lung
39	chr11:66705200-66717400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr11:66705600-66717200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:66706200-66707000	Enhancers	K562	blood
42	chr11:66706600-66719400	Weak transcription	Fetal Heart	heart
43	chr11:66707000-66717200	Weak transcription	K562	blood
44	chr11:66707200-66710000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:66707400-66708800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr11:66707400-66717800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr11:66707400-66717800	Weak transcription	Fetal Muscle Trunk	muscle
48	chr11:66707600-66712200	Weak transcription	Hela-S3	cervix
49	chr11:66707800-66715400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr11:66708000-66724200	Weak transcription	Stomach Smooth Muscle	stomach

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