Variant report

Variant	nsv559397
Chromosome Location	chr12:74638365-74646054
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	chr12:74644729..74646901-chr12:74673133..74675574,2	K562	blood:
2	chr12:74642568..74645294-chr12:74647466..74649300,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNC2-3	chr12:74642417-74642627	ENSG00000257183.1
2	lnc-KCNC2-3	chr12:74644265-74644361	ENSG00000257183.1

Extended variants
information (count: 285 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:285 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575786	chr12:74638365-74638366	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs184068555	chr12:74638369-74638370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559529953	chr12:74638373-74638374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528050758	chr12:74638412-74638413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147704241	chr12:74638431-74638432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571490578	chr12:74638454-74638455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73350054	chr12:74638457-74638458	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs550880828	chr12:74638487-74638488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375824372	chr12:74638572-74638573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4628761	chr12:74638616-74638617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs17113229	chr12:74638630-74638631	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs185712988	chr12:74638658-74638659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190572518	chr12:74638677-74638678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566630566	chr12:74638718-74638719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538997858	chr12:74638722-74638723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558692832	chr12:74638754-74638755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116350812	chr12:74638759-74638760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538133399	chr12:74638760-74638761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73350056	chr12:74638761-74638762	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs575074961	chr12:74638789-74638790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529525322	chr12:74638798-74638799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1829699	chr12:74638831-74638832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540838643	chr12:74638858-74638859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182439507	chr12:74638875-74638876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572996458	chr12:74638964-74638965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10785097	chr12:74639047-74639048	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs550970077	chr12:74639118-74639119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112595366	chr12:74639129-74639130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34171736	chr12:74639139-74639140	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs530575476	chr12:74639142-74639143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11179993	chr12:74639196-74639197	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs560859820	chr12:74639209-74639210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529794069	chr12:74639233-74639234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546414562	chr12:74639237-74639238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527610756	chr12:74639311-74639312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566595575	chr12:74639427-74639428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138797250	chr12:74639435-74639436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547634234	chr12:74639449-74639450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552664936	chr12:74639465-74639466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569152723	chr12:74639479-74639480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538276614	chr12:74639500-74639501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186938824	chr12:74639528-74639529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575213113	chr12:74639555-74639556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534362235	chr12:74639567-74639568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554422137	chr12:74639578-74639579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192986782	chr12:74639581-74639582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78808829	chr12:74639587-74639588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551063785	chr12:74639600-74639601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544774194	chr12:74639656-74639657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565033874	chr12:74639658-74639659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	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
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	20409316	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74636600-74678000	Weak transcription	K562	blood
2	chr12:74640200-74640600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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