Variant report

Variant	nsv584313
Chromosome Location	chr2:212176967-212224689
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:212194362..212196921-chr2:212198179..212200308,2	MCF-7	breast:
2	chr2:212200074..212202618-chr2:212203721..212206194,2	MCF-7	breast:
3	chr2:212209166..212212876-chr2:212215459..212218720,4	MCF-7	breast:
4	chr2:212193606..212195700-chr2:212198013..212199729,2	MCF-7	breast:
5	chr2:212192196..212193825-chr2:212271514..212273497,2	MCF-7	breast:
6	chr2:212200558..212203516-chr2:212212209..212214260,2	MCF-7	breast:
7	chr2:212194362..212196921-chr2:212198179..212200308,2	MCF-7	breast:
8	chr2:212200074..212202618-chr2:212203721..212206194,2	MCF-7	breast:
9	chr2:212193606..212195700-chr2:212198013..212199729,2	MCF-7	breast:
10	chr2:212200558..212203516-chr2:212212209..212214260,2	MCF-7	breast:
11	chr2:212209166..212212876-chr2:212215459..212218720,4	MCF-7	breast:

No data

Extended variants
information (count: 970 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:970 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533216251	chr2:212193201-212193202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546227605	chr2:212193212-212193213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544037233	chr2:212193224-212193225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11893194	chr2:212193234-212193235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146574661	chr2:212193295-212193296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574722771	chr2:212193314-212193315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs71422739	chr2:212193335-212193336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373804175	chr2:212193348-212193349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35301621	chr2:212193397-212193398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76979646	chr2:212193398-212193399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs71397129	chr2:212193409-212193410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs397797643	chr2:212193410-212193411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201759965	chr2:212193411-212193412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114645425	chr2:212193419-212193420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531967637	chr2:212193422-212193423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs13008308	chr2:212193439-212193440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs13430690	chr2:212193442-212193443	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs562532821	chr2:212193471-212193472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs79031983	chr2:212193506-212193507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369718509	chr2:212193592-212193593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185994609	chr2:212193603-212193604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551220501	chr2:212193647-212193648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561318119	chr2:212193726-212193727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530465817	chr2:212193741-212193742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs145726918	chr2:212193742-212193743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373334395	chr2:212193744-212193745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566861826	chr2:212193763-212193764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577957308	chr2:212193779-212193780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190859079	chr2:212193781-212193782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372387678	chr2:212193782-212193783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576074159	chr2:212193791-212193792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113403733	chr2:212193802-212193803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183991892	chr2:212193806-212193807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534099485	chr2:212193885-212193886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553756880	chr2:212193888-212193889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576926871	chr2:212193896-212193897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545847962	chr2:212193905-212193906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562443304	chr2:212193907-212193908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs59494689	chr2:212193910-212193911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113480169	chr2:212193930-212193931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187248952	chr2:212193939-212193940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561540795	chr2:212193986-212193987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191733059	chr2:212193989-212193990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547292401	chr2:212193992-212193993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560656626	chr2:212193994-212193995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34883780	chr2:212194012-212194013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71047167	chr2:212194038-212194039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78126988	chr2:212194049-212194050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375442201	chr2:212194053-212194054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547468277	chr2:212194070-212194071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Schizophrenia	20838587	CNVD
Breast cancer	17661082	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212193200-212193800	Enhancers	Hela-S3	cervix
2	chr2:212193200-212195000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:212193400-212193800	Enhancers	NHEK	skin
4	chr2:212193600-212198200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr2:212193800-212194200	Weak transcription	Hela-S3	cervix
6	chr2:212193800-212194200	Weak transcription	NHEK	skin
7	chr2:212194200-212194800	Enhancers	NHEK	skin
8	chr2:212194200-212195600	Enhancers	Hela-S3	cervix
9	chr2:212194200-212199000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:212194400-212195200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:212194800-212195000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:212194800-212195000	Enhancers	Gastric	stomach
13	chr2:212194800-212195200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
14	chr2:212194800-212195200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr2:212194800-212195200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:212194800-212199000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr2:212195000-212195600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr2:212195200-212195400	Enhancers	H1 Cell Line	embryonic stem cell
19	chr2:212195200-212195400	Enhancers	H9 Cell Line	embryonic stem cell
20	chr2:212195200-212196200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr2:212195400-212196400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr2:212195400-212198400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr2:212195400-212199000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr2:212195600-212196000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr2:212195600-212196000	Weak transcription	Hela-S3	cervix
26	chr2:212196000-212196600	Enhancers	Hela-S3	cervix
27	chr2:212196000-212197600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr2:212196200-212196600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:212196200-212197000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr2:212196200-212197000	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr2:212196400-212196600	Enhancers	H1 Cell Line	embryonic stem cell
32	chr2:212196400-212196800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:212196400-212197600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:212196600-212196800	Enhancers	Gastric	stomach
35	chr2:212196600-212197000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:212196600-212197800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:212196600-212198200	Weak transcription	Hela-S3	cervix
38	chr2:212196800-212198200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:212197000-212197200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr2:212197000-212198400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr2:212197000-212199000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:212197200-212197400	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr2:212197400-212198400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
44	chr2:212197600-212198200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr2:212198200-212198400	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr2:212198200-212199000	Enhancers	Hela-S3	cervix
47	chr2:212198400-212198600	Enhancers	H9 Cell Line	embryonic stem cell
48	chr2:212198400-212198600	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr2:212198400-212198600	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr2:212198400-212199200	Enhancers	Pancreatic Islets	Pancreatic Islet

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