Variant report

Variant	nsv518952
Chromosome Location	chr12:40857620-40867333
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:3)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:40855828..40858199-chr12:40862513..40864667,2	MCF-7	breast:
2	chr12:40852289..40854135-chr12:40855976..40858813,2	K562	blood:
3	chr12:40855828..40858199-chr12:40862513..40864667,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MUC19-1	chr12:40859257-40859391	NONHSAT027728
2	lnc-MUC19-1	chr12:40858941-40859015	NONHSAT027728
3	lnc-MUC19-1	chr12:40859775-40859840	NONHSAT027728
4	lnc-MUC19-1	chr12:40858223-40858300	NONHSAT027728
5	lnc-MUC19-1	chr12:40866943-40867041	NONHSAT027728
6	lnc-MUC19-1	chr12:40857922-40858005	NONHSAT027728

No data

Extended variants
information (count: 164 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:164 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2933353	chr12:40857943-40857944	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs529652014	chr12:40857948-40857949	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs7956459	chr12:40857966-40857967	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs531243219	chr12:40857967-40857968	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs552946221	chr12:40857984-40857985	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs149657833	chr12:40858279-40858280	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs369139127	chr12:40858297-40858298	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs148418437	chr12:40858997-40858998	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs559773748	chr12:40859266-40859267	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs533723093	chr12:40859292-40859293	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs77211954	chr12:40859321-40859322	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs551680749	chr12:40859337-40859338	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs34690567	chr12:40859342-40859343	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs563494847	chr12:40859366-40859367	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs531019133	chr12:40859390-40859391	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs574207290	chr12:40859793-40859794	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs541050343	chr12:40859808-40859809	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs553380246	chr12:40859837-40859838	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs577962513	chr12:40859839-40859840	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs568631965	chr12:40863495-40863496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544421469	chr12:40863514-40863515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536060252	chr12:40863522-40863523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142331020	chr12:40863538-40863539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146435185	chr12:40863576-40863577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533537383	chr12:40863584-40863585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558170707	chr12:40863590-40863591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs180777927	chr12:40863596-40863597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147894593	chr12:40863636-40863637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369152066	chr12:40863659-40863660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2933379	chr12:40863666-40863667	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs574518973	chr12:40863667-40863668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2933380	chr12:40863696-40863697	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs560368842	chr12:40863741-40863742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572544658	chr12:40863753-40863754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546218985	chr12:40863754-40863755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564428102	chr12:40863767-40863768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573292203	chr12:40863776-40863777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531750139	chr12:40863785-40863786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370134404	chr12:40863791-40863792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545142213	chr12:40863833-40863834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550464075	chr12:40863836-40863837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540717173	chr12:40863838-40863839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141669903	chr12:40863855-40863856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1388784	chr12:40863880-40863881	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs548002854	chr12:40863924-40863925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs71726587	chr12:40863927-40863928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184609247	chr12:40863973-40863974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189182860	chr12:40863986-40863987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533934166	chr12:40863995-40863996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551858108	chr12:40864020-40864021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40863400-40864000	Enhancers	Fetal Heart	heart
2	chr12:40863400-40864400	Enhancers	Fetal Brain Male	brain
3	chr12:40864000-40867600	Weak transcription	Fetal Heart	heart
4	chr12:40866400-40869400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:40866600-40866800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:40866600-40870600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr12:40867000-40869000	Enhancers	H9 Cell Line	embryonic stem cell
8	chr12:40867200-40868400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:40867200-40870600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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