Variant report

Variant	nsv975195
Chromosome Location	chr11:64091748-64094419
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:64090421..64092966-chr11:64097826..64099466,2	MCF-7	breast:
2	chr11:64092602..64094465-chr11:64105880..64108859,2	MCF-7	breast:
3	chr11:64088256..64090312-chr11:64092623..64094945,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168071	chromatin interactions

Extended variants
information (count: 94 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561674928	chr11:64091772-64091773	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs386754328	chr11:64091781-64091782	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs604493	chr11:64091782-64091783	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs566719130	chr11:64091832-64091833	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535785108	chr11:64091862-64091863	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547339474	chr11:64091929-64091930	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182922613	chr11:64091957-64091958	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187072488	chr11:64092037-64092038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189615524	chr11:64092083-64092084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs71456306	chr11:64092099-64092100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146258082	chr11:64092104-64092105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369971738	chr11:64092134-64092135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182220811	chr11:64092150-64092151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35881504	chr11:64092180-64092181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540311604	chr11:64092224-64092225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78443976	chr11:64092269-64092270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71045763	chr11:64092270-64092271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183273353	chr11:64092290-64092291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs398016378	chr11:64092295-64092296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374887733	chr11:64092296-64092297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552369553	chr11:64092333-64092334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373300956	chr11:64092453-64092454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573872069	chr11:64092455-64092456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138931368	chr11:64092476-64092477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71456307	chr11:64092512-64092513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542768580	chr11:64092527-64092528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562644228	chr11:64092607-64092608	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs530810273	chr11:64092634-64092635	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs531606843	chr11:64092673-64092674	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs569381650	chr11:64092708-64092709	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs140359988	chr11:64092765-64092766	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs528177344	chr11:64092808-64092809	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs71456308	chr11:64092833-64092834	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs187573286	chr11:64092847-64092848	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs575982154	chr11:64092853-64092854	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs368907949	chr11:64092888-64092889	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs373388796	chr11:64092904-64092905	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs193086350	chr11:64092928-64092929	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs60421451	chr11:64092949-64092950	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs549523973	chr11:64092951-64092952	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs185790497	chr11:64092965-64092966	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs568120397	chr11:64092983-64092984	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs150354079	chr11:64093038-64093039	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs188305486	chr11:64093069-64093070	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs373876983	chr11:64093085-64093086	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs577711550	chr11:64093093-64093094	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs533917660	chr11:64093120-64093121	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs553915832	chr11:64093123-64093124	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs193167471	chr11:64093181-64093182	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs184051430	chr11:64093225-64093226	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Pituitary adenoma	18645599	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	21785460	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
Anaplastic thyroid cancer	18753363	CNVD
Prostate cancer	18779856	CNVD
Cancer	17160897	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64086800-64096600	Weak transcription	Right Atrium	heart
2	chr11:64086800-64099000	Weak transcription	Small Intestine	intestine
3	chr11:64087000-64097200	Weak transcription	HSMMtube	muscle
4	chr11:64087000-64099000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr11:64087000-64099000	Weak transcription	HSMM	muscle
6	chr11:64087000-64108200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:64087200-64098800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr11:64087200-64099000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr11:64087200-64099000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr11:64087400-64093200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:64087400-64096800	Weak transcription	Psoas Muscle	Psoas
12	chr11:64087400-64097000	Weak transcription	HUVEC	blood vessel
13	chr11:64087400-64099000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr11:64087400-64099000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr11:64088400-64094800	Weak transcription	Brain Substantia Nigra	brain
16	chr11:64088600-64092000	Strong transcription	Brain Germinal Matrix	brain
17	chr11:64088800-64091800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:64089200-64092400	Weak transcription	HepG2	liver
19	chr11:64089200-64093200	Weak transcription	NH-A	brain
20	chr11:64089200-64094000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr11:64089200-64096600	Weak transcription	NHDF-Ad	bronchial
22	chr11:64089200-64096800	Weak transcription	Aorta	Aorta
23	chr11:64089200-64096800	Weak transcription	A549	lung
24	chr11:64089200-64098600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr11:64089400-64092600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr11:64089400-64106800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr11:64089600-64092400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr11:64089600-64094800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:64089800-64091800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:64089800-64096200	Weak transcription	Colon Smooth Muscle	Colon
31	chr11:64090000-64098600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr11:64090200-64091800	Genic enhancers	Spleen	Spleen
33	chr11:64090200-64092000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:64090200-64092400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr11:64090200-64099400	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr11:64090400-64091800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr11:64090400-64091800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:64090400-64092200	Enhancers	Fetal Thymus	thymus
39	chr11:64090400-64092600	Enhancers	H1 Cell Line	embryonic stem cell
40	chr11:64090400-64094800	Weak transcription	Primary B cells from peripheral blood	blood
41	chr11:64090400-64096400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:64090400-64096600	Weak transcription	Osteobl	bone
43	chr11:64090600-64093200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr11:64090600-64094800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr11:64090600-64095400	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr11:64090600-64096600	Weak transcription	Left Ventricle	heart
47	chr11:64090600-64096600	Weak transcription	Ovary	ovary
48	chr11:64090600-64096600	Weak transcription	Stomach Mucosa	stomach
49	chr11:64090600-64096800	Weak transcription	Hela-S3	cervix
50	chr11:64090600-64098400	Weak transcription	Primary T cells fromperipheralblood	blood

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