Variant report

Variant	nsv580999
Chromosome Location	chr2:12119686-12134346
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:12123326..12125622-chr2:12128261..12130308,2	K562	blood:
2	chr2:12115472..12118231-chr2:12120422..12123334,3	K562	blood:
3	chr2:12120436..12122993-chr2:12126341..12128818,2	K562	blood:
4	chr2:12120436..12122993-chr2:12126341..12128818,2	K562	blood:
5	chr2:12115472..12118231-chr2:12121713..12123334,2	K562	blood:
6	chr2:12117162..12119125-chr2:12119817..12121669,2	MCF-7	breast:
7	chr2:12123326..12125622-chr2:12128261..12130308,2	K562	blood:

Extended variants
information (count: 597 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:597 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1371610	chr2:12119686-12119687	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554453741	chr2:12119701-12119702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6708806	chr2:12119706-12119707	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs368154459	chr2:12119713-12119714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375069770	chr2:12119718-12119719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550717909	chr2:12119742-12119743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532920435	chr2:12119776-12119777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191433636	chr2:12119784-12119785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372543096	chr2:12119790-12119791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548748365	chr2:12119799-12119800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2716643	chr2:12119806-12119807	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs184149063	chr2:12119817-12119818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188415154	chr2:12119857-12119858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577864064	chr2:12119880-12119881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143885205	chr2:12119894-12119895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192871360	chr2:12119940-12119941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77674538	chr2:12119949-12119950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542790232	chr2:12119975-12119976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561455737	chr2:12119984-12119985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75747841	chr2:12119996-12119997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540830532	chr2:12120015-12120016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370868841	chr2:12120047-12120048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185395250	chr2:12120051-12120052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550940111	chr2:12120077-12120078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562773761	chr2:12120089-12120090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190070099	chr2:12120166-12120167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563300667	chr2:12120185-12120186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532384833	chr2:12120216-12120217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548317781	chr2:12120224-12120225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71446444	chr2:12120236-12120237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534465045	chr2:12120237-12120238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114806196	chr2:12120248-12120249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529606146	chr2:12120282-12120283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538584568	chr2:12120328-12120329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549450949	chr2:12120329-12120330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566221696	chr2:12120435-12120436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556911975	chr2:12120438-12120439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140278238	chr2:12120444-12120445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371686602	chr2:12120445-12120446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555935652	chr2:12120468-12120469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184726633	chr2:12120469-12120470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2716642	chr2:12120486-12120487	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs140707948	chr2:12120495-12120496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540784036	chr2:12120516-12120517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558923449	chr2:12120531-12120532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188143651	chr2:12120583-12120584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544627375	chr2:12120630-12120631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs562893512	chr2:12120639-12120640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs150115496	chr2:12120644-12120645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551825839	chr2:12120661-12120662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	20607354	CNVD
Acute myeloid leukemia	20729466	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12115800-12127200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:12116000-12121000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:12116400-12122600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:12119600-12120000	Enhancers	H1 Cell Line	embryonic stem cell
5	chr2:12119600-12120000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr2:12119600-12120200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:12119600-12120200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr2:12119600-12120200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:12119600-12120200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr2:12119800-12120200	Enhancers	H9 Cell Line	embryonic stem cell
11	chr2:12120200-12120600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:12120600-12122200	Enhancers	Pancreas	Pancrea
13	chr2:12120600-12122400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr2:12120800-12121000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:12120800-12121600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:12120800-12121600	Enhancers	Osteobl	bone
17	chr2:12121000-12121200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:12121000-12121200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr2:12121000-12121400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:12121000-12121600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr2:12121000-12121800	Enhancers	Fetal Muscle Leg	muscle
22	chr2:12121400-12121800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:12121600-12122800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
24	chr2:12121800-12122000	Bivalent Enhancer	Fetal Muscle Leg	muscle
25	chr2:12122000-12122200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr2:12122000-12122400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:12122800-12124200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr2:12123400-12123800	Bivalent Enhancer	Fetal Muscle Leg	muscle
29	chr2:12123600-12125800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr2:12123800-12124200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr2:12123800-12124600	Enhancers	Fetal Muscle Leg	muscle
32	chr2:12124000-12125200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:12124000-12125400	Enhancers	Fetal Thymus	thymus
34	chr2:12124200-12124400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:12124200-12124600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:12124200-12125400	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr2:12124400-12124600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:12124400-12125000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr2:12124600-12125200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr2:12124600-12125600	Bivalent Enhancer	Fetal Muscle Leg	muscle
41	chr2:12124800-12125200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:12124800-12125400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr2:12124800-12125600	Enhancers	Dnd41	blood
44	chr2:12125000-12125200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr2:12125200-12126400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr2:12125400-12134200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr2:12125600-12125800	Enhancers	Fetal Muscle Leg	muscle
48	chr2:12125800-12126000	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr2:12125800-12127200	Weak transcription	Fetal Muscle Leg	muscle
50	chr2:12126000-12127200	Enhancers	H9 Cell Line	embryonic stem cell

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