Variant report

Variant	nsv469364
Chromosome Location	chr12:41631105-41710912
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:41671648..41672619-chr12:42417775..42418485,2	MCF-7	breast:
2	chr12:41340385..41340901-chr12:41658157..41658700,2	MCF-7	breast:
3	chr12:41658168..41658718-chr12:42139304..42140019,2	MCF-7	breast:
4	chr12:41670983..41671656-chr12:42057034..42057781,2	MCF-7	breast:

Extended variants
information (count: 2972 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:2972 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7963760	chr12:41631105-41631106	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs186921994	chr12:41631160-41631161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557224115	chr12:41631222-41631223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373731501	chr12:41631261-41631262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139731884	chr12:41631322-41631323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78207335	chr12:41631325-41631326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536956293	chr12:41631341-41631342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199928434	chr12:41631356-41631357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554639093	chr12:41631361-41631362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77121697	chr12:41631365-41631366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537535708	chr12:41631426-41631427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559017188	chr12:41631430-41631431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565425189	chr12:41631432-41631433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200414616	chr12:41631434-41631435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577900802	chr12:41631458-41631459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74998967	chr12:41631488-41631489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545181940	chr12:41631500-41631501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377677621	chr12:41631536-41631537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563473201	chr12:41631538-41631539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577292001	chr12:41631551-41631552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541380293	chr12:41631554-41631555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192482443	chr12:41631560-41631561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373692069	chr12:41631566-41631567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560703421	chr12:41631570-41631571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185088001	chr12:41631585-41631586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546289896	chr12:41631586-41631587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77492820	chr12:41631616-41631617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556399310	chr12:41631633-41631634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538357568	chr12:41631647-41631648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550716411	chr12:41631652-41631653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574749277	chr12:41631683-41631684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6582281	chr12:41631702-41631703	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs536511523	chr12:41631710-41631711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189796462	chr12:41631721-41631722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs193161861	chr12:41631725-41631726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534226315	chr12:41631748-41631749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184618889	chr12:41631754-41631755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577363634	chr12:41631757-41631758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77075823	chr12:41631762-41631763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79282305	chr12:41631781-41631782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189939397	chr12:41631784-41631785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563301818	chr12:41631785-41631786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181297505	chr12:41631828-41631829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78694332	chr12:41631839-41631840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542533665	chr12:41631867-41631868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6582282	chr12:41631868-41631869	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs185028711	chr12:41631870-41631871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146808453	chr12:41631879-41631880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188316326	chr12:41631902-41631903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75812596	chr12:41631923-41631924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD

Chromatin state (count:269 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41623200-41635600	Weak transcription	Colon Smooth Muscle	Colon
2	chr12:41623600-41637000	Weak transcription	Ovary	ovary
3	chr12:41630600-41635600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr12:41635400-41636800	Enhancers	Fetal Lung	lung
5	chr12:41635600-41636200	Enhancers	Stomach Smooth Muscle	stomach
6	chr12:41635600-41637000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:41635600-41637000	Enhancers	Colon Smooth Muscle	Colon
8	chr12:41635800-41636800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:41635800-41636800	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr12:41635800-41637200	Enhancers	Primary hematopoietic stem cells	blood
11	chr12:41636200-41636600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr12:41636400-41636800	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr12:41636400-41636800	Enhancers	Aorta	Aorta
14	chr12:41636400-41636800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr12:41636400-41636800	Enhancers	Fetal Stomach	stomach
16	chr12:41636600-41636800	Enhancers	Stomach Smooth Muscle	stomach
17	chr12:41636800-41641000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr12:41636800-41645600	Weak transcription	Aorta	Aorta
19	chr12:41637000-41648200	Weak transcription	Colon Smooth Muscle	Colon
20	chr12:41637200-41637400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr12:41637400-41637800	Enhancers	Primary hematopoietic stem cells	blood
22	chr12:41637800-41651000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr12:41641000-41641600	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr12:41641600-41642000	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr12:41642000-41642600	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr12:41643600-41644400	Weak transcription	Ovary	ovary
27	chr12:41644000-41645000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:41644200-41644400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:41644400-41644600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:41644400-41644600	Flanking Active TSS	Ovary	ovary
31	chr12:41644400-41644800	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr12:41644400-41644800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr12:41644400-41644800	Enhancers	Brain Anterior Caudate	brain
34	chr12:41644400-41645000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:41644400-41645200	Enhancers	NHEK	skin
36	chr12:41644600-41644800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:41644600-41644800	Active TSS	Ovary	ovary
38	chr12:41644600-41645000	Enhancers	HMEC	breast
39	chr12:41644800-41657200	Weak transcription	Ovary	ovary
40	chr12:41645000-41645200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:41648200-41648600	Enhancers	Colon Smooth Muscle	Colon
42	chr12:41648600-41650400	Weak transcription	Colon Smooth Muscle	Colon
43	chr12:41650400-41650600	Enhancers	Colon Smooth Muscle	Colon
44	chr12:41650600-41651000	Weak transcription	Colon Smooth Muscle	Colon
45	chr12:41651000-41651200	Enhancers	Colon Smooth Muscle	Colon
46	chr12:41651200-41661000	Weak transcription	Colon Smooth Muscle	Colon
47	chr12:41657200-41657400	Enhancers	Ovary	ovary
48	chr12:41661000-41661200	Enhancers	Colon Smooth Muscle	Colon
49	chr12:41661200-41668400	Weak transcription	Colon Smooth Muscle	Colon
50	chr12:41667600-41668800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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