Variant report

Variant	nsv676
Chromosome Location	chr12:39184359-39215822
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:0)
LncRNA
region (count:15)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ALG10B-8	chr12:39209246-39209299	ucscGeneNc_uc001rmj_1
2	lnc-ALG10B-8	chr12:39207165-39207856	ucscGeneNc_uc001rmj_1
3	lnc-ALG10B-8	chr12:39210342-39210389	ucscGeneNc_uc001rmj_1
4	lnc-ALG10B-8	chr12:39208126-39208179	ucscGeneNc_uc001rmj_1
5	lnc-ALG10B-8	chr12:39213094-39213147	ucscGeneNc_uc001rmj_1
6	lnc-ALG10B-8	chr12:39210527-39210580	ucscGeneNc_uc001rmj_1
7	lnc-ALG10B-8	chr12:39203658-39203711	ucscGeneNc_uc001rmj_1
8	lnc-ALG10B-8	chr12:39208326-39208376	ucscGeneNc_uc001rmj_1
9	lnc-ALG10B-8	chr12:39211126-39212351	ucscGeneNc_uc001rmj_1
10	lnc-ALG10B-8	chr12:39202554-39203514	ucscGeneNc_uc001rmj_1
11	lnc-ALG10B-8	chr12:39213302-39213352	ucscGeneNc_uc001rmj_1
12	lnc-ALG10B-8	chr12:39206342-39206395	ucscGeneNc_uc001rmj_1
13	lnc-ALG10B-8	chr12:39214780-39214853	ucscGeneNc_uc001rmj_1
14	lnc-ALG10B-8	chr12:39214225-39214278	ucscGeneNc_uc001rmj_1
15	lnc-ALG10B-8	chr12:39204585-39205690	ucscGeneNc_uc001rmj_1

No data

Extended variants
information (count: 1409 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1409 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564623423	chr12:39184403-39184404	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs58919334	chr12:39184406-39184407	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs372971281	chr12:39184472-39184473	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs11169540	chr12:39184483-39184484	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs191964979	chr12:39184514-39184515	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs826837	chr12:39184525-39184526	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs529465715	chr12:39184533-39184534	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs370227183	chr12:39184538-39184539	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs549186140	chr12:39184547-39184548	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs563033927	chr12:39184556-39184557	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs531598126	chr12:39184567-39184568	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs184760244	chr12:39184592-39184593	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs571560812	chr12:39184595-39184596	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs532161047	chr12:39184607-39184608	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs147841224	chr12:39184639-39184640	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs550652616	chr12:39184762-39184763	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs568962942	chr12:39184815-39184816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567447109	chr12:39184832-39184833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190462365	chr12:39184836-39184837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141342437	chr12:39184841-39184842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75552759	chr12:39184885-39184886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs851931	chr12:39184935-39184936	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs529700173	chr12:39185019-39185020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145233036	chr12:39185036-39185037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540495206	chr12:39185063-39185064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554071616	chr12:39185067-39185068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75653008	chr12:39185071-39185072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77047059	chr12:39185087-39185088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141444985	chr12:39185098-39185099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370296653	chr12:39185099-39185100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543245905	chr12:39185130-39185131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547985343	chr12:39185142-39185143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192326713	chr12:39185159-39185160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562837045	chr12:39185162-39185163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531791865	chr12:39185273-39185274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184449541	chr12:39185277-39185278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565252142	chr12:39185304-39185305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189745109	chr12:39185312-39185313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150968353	chr12:39185378-39185379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74086007	chr12:39185400-39185401	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs826836	chr12:39185406-39185407	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs549903763	chr12:39185443-39185444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73089546	chr12:39185445-39185446	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs538690253	chr12:39185446-39185447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556031676	chr12:39185466-39185467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558387582	chr12:39185475-39185476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs78741474	chr12:39185499-39185500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534350457	chr12:39185513-39185514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554034775	chr12:39185572-39185573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574040924	chr12:39185594-39185595	Weak transcription Enhancers	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
Breast cancer	21509527	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
Breast cancer	21364760	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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39153800-39188600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:39169400-39186600	Weak transcription	Hela-S3	cervix
3	chr12:39177400-39188600	Weak transcription	Lung	lung
4	chr12:39180000-39184800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:39180200-39188600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr12:39182600-39202800	Weak transcription	Liver	Liver
7	chr12:39184200-39186400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr12:39184200-39205800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:39185400-39185800	Enhancers	NHEK	skin
10	chr12:39185600-39190600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:39187000-39187400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr12:39188200-39193400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:39188400-39188800	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr12:39188600-39189000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
15	chr12:39188600-39189000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
16	chr12:39188600-39189000	ZNF genes & repeats	Left Ventricle	heart
17	chr12:39188600-39189000	ZNF genes & repeats	Lung	lung
18	chr12:39188600-39189000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
19	chr12:39188600-39189400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
20	chr12:39189600-39189800	Weak transcription	Lung	lung
21	chr12:39189800-39190000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr12:39189800-39190800	ZNF genes & repeats	Lung	lung
23	chr12:39190200-39190800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr12:39193400-39193800	Active TSS	H9 Cell Line	embryonic stem cell
25	chr12:39200800-39205000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr12:39201200-39208000	Weak transcription	A549	lung
27	chr12:39201600-39208800	Weak transcription	Esophagus	oesophagus
28	chr12:39201800-39205600	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr12:39201800-39216600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:39202800-39203400	Strong transcription	Liver	Liver
31	chr12:39202800-39204800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr12:39203000-39203200	Enhancers	Aorta	Aorta
33	chr12:39203000-39203200	Enhancers	Pancreas	Pancrea
34	chr12:39203000-39203200	ZNF genes & repeats	Psoas Muscle	Psoas
35	chr12:39203000-39203400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr12:39203200-39213400	Weak transcription	Pancreas	Pancrea
37	chr12:39203200-39220200	Weak transcription	Psoas Muscle	Psoas
38	chr12:39203200-39276000	Weak transcription	Aorta	Aorta
39	chr12:39203400-39203800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr12:39203400-39204600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:39203400-39204600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:39203400-39205800	Weak transcription	Liver	Liver
43	chr12:39203600-39216800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr12:39203800-39204000	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr12:39203800-39204000	Genic enhancers	Primary hematopoietic stem cells	blood
46	chr12:39203800-39204000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr12:39203800-39205800	Weak transcription	Ovary	ovary
48	chr12:39204000-39204600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr12:39204000-39205200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr12:39204000-39205600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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