Variant report

Variant	nsv961358
Chromosome Location	chr2:171734088-171734919
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:171729910..171732029-chr2:171733045..171735260,2	MCF-7	breast:
2	chr2:171733620..171736604-chr2:171737963..171739920,3	K562	blood:
3	chr2:171721677..171726010-chr2:171731476..171734906,5	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17702120	chr2:171734098-171734099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs116380425	chr2:171734134-171734135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75670546	chr2:171734176-171734177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10930445	chr2:171734198-171734199	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs186747409	chr2:171734211-171734212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537451749	chr2:171734242-171734243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556990270	chr2:171734286-171734287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549475273	chr2:171734365-171734366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567858230	chr2:171734369-171734370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528979346	chr2:171734389-171734390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs151255677	chr2:171734390-171734391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565724797	chr2:171734412-171734413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373847295	chr2:171734515-171734516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150433447	chr2:171734542-171734543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs201618278	chr2:171734561-171734562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201884572	chr2:171734562-171734563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs6734495	chr2:171734582-171734583	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs537399430	chr2:171734586-171734587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544946217	chr2:171734633-171734634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559032470	chr2:171734696-171734697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs12996521	chr2:171734722-171734723	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs541144357	chr2:171734811-171734812	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs573016708	chr2:171734829-171734830	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:45)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	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
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Sudden cardiac death	19188705	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171730000-171734600	Weak transcription	NH-A	brain
2	chr2:171730200-171734200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:171730200-171734400	Weak transcription	Pancreas	Pancrea
4	chr2:171730200-171734600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr2:171730200-171734600	Weak transcription	Hela-S3	cervix
6	chr2:171730200-171735000	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr2:171730400-171734600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:171730400-171734600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr2:171730400-171734600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:171730400-171734600	Weak transcription	Dnd41	blood
11	chr2:171730400-171734800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:171730600-171734600	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr2:171731200-171740400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:171734000-171735200	Enhancers	HMEC	breast
15	chr2:171734200-171735200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:171734200-171735400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:171734400-171734600	Enhancers	Pancreas	Pancrea
18	chr2:171734400-171735400	Enhancers	NHEK	skin
19	chr2:171734600-171734800	Enhancers	Primary B cells from cord blood	blood
20	chr2:171734600-171734800	Enhancers	Dnd41	blood
21	chr2:171734600-171735000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:171734600-171735000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:171734600-171735000	Enhancers	Stomach Mucosa	stomach
24	chr2:171734600-171735000	Enhancers	Hela-S3	cervix
25	chr2:171734600-171735200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:171734600-171735200	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr2:171734600-171735200	Enhancers	NH-A	brain
28	chr2:171734600-171735400	Enhancers	Primary B cells from peripheral blood	blood
29	chr2:171734600-171735400	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr2:171734800-171735000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr2:171734800-171735400	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr2:171734800-171735400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:171734800-171735400	Active TSS	Duodenum Mucosa	Duodenum
34	chr2:171734800-171735400	Flanking Active TSS	Dnd41	blood

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