Variant report

Variant	nsv962099
Chromosome Location	chr2:213227283-213230590
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:213223218..213224821-chr2:213227410..213229033,2	MCF-7	breast:

Extended variants
information (count: 102 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540381646	chr2:213227291-213227292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534801212	chr2:213227336-213227337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560006736	chr2:213227418-213227419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139517915	chr2:213227434-213227435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532204447	chr2:213227435-213227436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552229745	chr2:213227438-213227439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538234506	chr2:213227477-213227478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562451368	chr2:213227521-213227522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189665258	chr2:213227548-213227549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551289973	chr2:213227563-213227564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149785656	chr2:213227633-213227634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs13384508	chr2:213227635-213227636	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs565849305	chr2:213227651-213227652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs536977836	chr2:213227661-213227662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566876608	chr2:213227684-213227685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs13384603	chr2:213227710-213227711	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs144728315	chr2:213227742-213227743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575225022	chr2:213227797-213227798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543058978	chr2:213227805-213227806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537796177	chr2:213227838-213227839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554451885	chr2:213227879-213227880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535428411	chr2:213227905-213227906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553043487	chr2:213228020-213228021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567343949	chr2:213228043-213228044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540075326	chr2:213228089-213228090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560271697	chr2:213228124-213228125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148517216	chr2:213228232-213228233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536588236	chr2:213228297-213228298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369349658	chr2:213228308-213228309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181311254	chr2:213228325-213228326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562512189	chr2:213228335-213228336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573050403	chr2:213228355-213228356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs147634638	chr2:213228374-213228375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs13385537	chr2:213228404-213228405	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs541809034	chr2:213228444-213228445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561441859	chr2:213228456-213228457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569884244	chr2:213228478-213228479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530392587	chr2:213228479-213228480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546908455	chr2:213228525-213228526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567039852	chr2:213228528-213228529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565174761	chr2:213228547-213228548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73074257	chr2:213228566-213228567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568963816	chr2:213228567-213228568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs117050409	chr2:213228582-213228583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142775022	chr2:213228593-213228594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371427615	chr2:213228609-213228610	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568289948	chr2:213228620-213228621	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534077281	chr2:213228638-213228639	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186722422	chr2:213228644-213228645	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577107874	chr2:213228738-213228739	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	21147756	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	18990708	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213219200-213233600	Weak transcription	Psoas Muscle	Psoas
2	chr2:213221000-213228600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:213224200-213227400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:213224600-213228800	Weak transcription	Brain Germinal Matrix	brain
5	chr2:213225000-213228600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:213225200-213228400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:213225200-213228600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:213225200-213228600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:213225200-213228800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:213225200-213229000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:213225200-213229200	Weak transcription	Fetal Kidney	kidney
12	chr2:213225200-213231600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:213225400-213228800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:213225400-213228800	Weak transcription	Brain Angular Gyrus	brain
15	chr2:213226400-213228000	Weak transcription	Brain Substantia Nigra	brain
16	chr2:213226400-213228600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr2:213226400-213228600	Weak transcription	Brain Hippocampus Middle	brain
18	chr2:213226400-213228800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr2:213226400-213229200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:213226600-213228400	Weak transcription	Brain Anterior Caudate	brain
21	chr2:213226600-213228600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr2:213226600-213228600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr2:213226600-213229000	Weak transcription	HepG2	liver
24	chr2:213226600-213229200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr2:213227200-213228400	Weak transcription	Fetal Heart	heart
26	chr2:213227200-213228600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:213227400-213228400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:213228000-213229200	Enhancers	Brain Substantia Nigra	brain
29	chr2:213228200-213229000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:213228400-213228800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:213228400-213228800	Enhancers	Brain Anterior Caudate	brain
32	chr2:213228400-213229000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:213228400-213229000	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr2:213228400-213229600	Enhancers	NHDF-Ad	bronchial
35	chr2:213228400-213231000	Enhancers	Fetal Heart	heart
36	chr2:213228600-213229000	Enhancers	Brain Hippocampus Middle	brain
37	chr2:213228600-213229400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:213228600-213229400	Enhancers	HUVEC	blood vessel
39	chr2:213228600-213229600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:213228600-213229600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:213228600-213229600	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr2:213228600-213229600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr2:213228600-213229600	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr2:213228600-213229600	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr2:213228600-213229600	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr2:213228600-213229600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:213228600-213229800	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr2:213228800-213229000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr2:213228800-213229000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:213228800-213229200	Active TSS	Brain Angular Gyrus	brain

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