Variant report

Variant	nsv875813
Chromosome Location	chr2:213480637-213509809
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:213476033..213477807-chr2:213483623..213485149,2	MCF-7	breast:
2	chr2:213489595..213491555-chr2:213494161..213496417,2	MCF-7	breast:
3	chr2:213489595..213491555-chr2:213494161..213496417,2	MCF-7	breast:

Extended variants
information (count: 1146 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1146 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4672649	chr2:213480637-213480638	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562263752	chr2:213480655-213480656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561502354	chr2:213480670-213480671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529096726	chr2:213480729-213480730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373117566	chr2:213480733-213480734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550448163	chr2:213480786-213480787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4673670	chr2:213480852-213480853	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs574749566	chr2:213480885-213480886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528469053	chr2:213480909-213480910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78863654	chr2:213480929-213480930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542372985	chr2:213480956-213480957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183932630	chr2:213480986-213480987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562028231	chr2:213481010-213481011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549212490	chr2:213481044-213481045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546254329	chr2:213481066-213481067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11685022	chr2:213481081-213481082	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs532234074	chr2:213481084-213481085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146935845	chr2:213481085-213481086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374042469	chr2:213481116-213481117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556875456	chr2:213481135-213481136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552309267	chr2:213481155-213481156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567295372	chr2:213481189-213481190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538981719	chr2:213481237-213481238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111548016	chr2:213481342-213481343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs193285858	chr2:213481366-213481367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182197562	chr2:213481473-213481474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186978803	chr2:213481480-213481481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113769647	chr2:213481489-213481490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs377425812	chr2:213481530-213481531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568242802	chr2:213481549-213481550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555080029	chr2:213481650-213481651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563455516	chr2:213481729-213481730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543859072	chr2:213481745-213481746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191758944	chr2:213481748-213481749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562363536	chr2:213481867-213481868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs16848930	chr2:213481872-213481873	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs544984827	chr2:213481927-213481928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184219904	chr2:213481965-213481966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190057326	chr2:213481996-213481997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs80314927	chr2:213482004-213482005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567790366	chr2:213482034-213482035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192947993	chr2:213482036-213482037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs16848933	chr2:213482040-213482041	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs534562572	chr2:213482055-213482056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147191365	chr2:213482072-213482073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61495243	chr2:213482074-213482075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113572768	chr2:213482075-213482076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs16848937	chr2:213482088-213482089	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs571881870	chr2:213482109-213482110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185554102	chr2:213482163-213482164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Acute lymphoblastic leukemia	22237106	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213462600-213483200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:213481000-213481800	Enhancers	Placenta	Placenta
3	chr2:213482400-213485600	Enhancers	HMEC	breast
4	chr2:213483000-213485600	Enhancers	NHEK	skin
5	chr2:213483200-213485400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:213483200-213485400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:213483200-213485600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:213483400-213483600	Enhancers	Placenta	Placenta
9	chr2:213483600-213485000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:213483800-213485200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr2:213485400-213504800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:213496400-213496800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:213504600-213505800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:213504600-213505800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:213504800-213505200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:213504800-213505800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:213504800-213505800	Enhancers	HMEC	breast
18	chr2:213504800-213505800	Enhancers	NHEK	skin
19	chr2:213505400-213505800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:213505800-213509200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:213505800-213509400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:213505800-213511200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:213505800-213511200	Weak transcription	HMEC	breast
24	chr2:213505800-213511200	Weak transcription	NHEK	skin
25	chr2:213508800-213509600	Enhancers	Esophagus	oesophagus
26	chr2:213509000-213509600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:213509000-213509600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr2:213509000-213509800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:213509200-213509400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:213509200-213509400	ZNF genes & repeats	Pancreas	Pancrea
31	chr2:213509200-213509600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:213509200-213509600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr2:213509200-213509600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr2:213509200-213509600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:213509200-213510400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr2:213509400-213509800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:213509400-213509800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:213509400-213511600	Weak transcription	Pancreas	Pancrea
39	chr2:213509400-213512200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:213509800-213510600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links