Variant report

Variant	nsv1047518
Chromosome Location	chr12:38034346-38292067
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:38092578..38093097-chr2:92306640..92307159,2	MCF-7	breast:
2	chr11:48862246..48863766-chr12:38036979..38038502,2	MCF-7	breast:
3	chr12:38143553..38144054-chr18:18519761..18520264,2	MCF-7	breast:
4	chr12:38062177..38062716-chr12:38709963..38710509,2	MCF-7	breast:
5	chr12:38038013..38039001-chr3:156392284..156392894,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163659	chromatin interactions
ENSG00000175548	chromatin interactions

Extended variants
information (count: 21322 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:21322 , 50 per page) page: 1 2 3 4 5 6 7 ... 427

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202204207	chr12:38034348-38034349	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572033087	chr12:38034355-38034356	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs61923690	chr12:38034357-38034358	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148150397	chr12:38034359-38034360	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572536819	chr12:38034360-38034361	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs61923691	chr12:38034367-38034368	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540781135	chr12:38034368-38034369	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139245851	chr12:38034371-38034372	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560937845	chr12:38034373-38034374	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs61923692	chr12:38034384-38034385	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529380828	chr12:38034391-38034392	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542804077	chr12:38034392-38034393	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562880980	chr12:38034397-38034398	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531700945	chr12:38034399-38034400	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs61923693	chr12:38034404-38034405	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551818793	chr12:38034406-38034407	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571920371	chr12:38034408-38034409	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375484623	chr12:38034422-38034423	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370904873	chr12:38034425-38034426	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373689694	chr12:38034432-38034433	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs367721146	chr12:38034433-38034434	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372176726	chr12:38034435-38034436	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376769500	chr12:38034436-38034437	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368267635	chr12:38034439-38034440	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543122724	chr12:38034444-38034445	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371865323	chr12:38034451-38034452	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369558472	chr12:38034460-38034461	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375251564	chr12:38034462-38034463	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs61923694	chr12:38034463-38034464	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs61923695	chr12:38034469-38034470	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369220051	chr12:38034471-38034472	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527998945	chr12:38034477-38034478	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373356705	chr12:38034478-38034479	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374797491	chr12:38034479-38034480	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369191975	chr12:38034483-38034484	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs61923696	chr12:38034485-38034486	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs377708509	chr12:38034491-38034492	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371386748	chr12:38034496-38034497	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374128665	chr12:38034497-38034498	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377686899	chr12:38034505-38034506	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11514160	chr12:38034506-38034507	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200597292	chr12:38034521-38034522	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373435767	chr12:38034523-38034524	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370373869	chr12:38034538-38034539	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374796392	chr12:38034539-38034540	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61923697	chr12:38034548-38034549	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536322786	chr12:38034549-38034550	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189398094	chr12:38034551-38034552	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376357990	chr12:38034552-38034553	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs61923698	chr12:38034555-38034556	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Breast cancer	17133270	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	20858243	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Osteosarcoma	21215367	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD

Chromatin state (count:588 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:37989800-38041200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr12:37990000-38040800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr12:38026800-38038800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
4	chr12:38029200-38035000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr12:38029200-38035000	Weak transcription	Ovary	ovary
6	chr12:38029200-38035000	Weak transcription	Thymus	Thymus
7	chr12:38029200-38035000	Weak transcription	K562	blood
8	chr12:38029200-38035000	Weak transcription	NHDF-Ad	bronchial
9	chr12:38029200-38038000	Weak transcription	NHEK	skin
10	chr12:38029400-38035000	Weak transcription	Hela-S3	cervix
11	chr12:38031000-38034600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:38031600-38035000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:38032000-38041000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:38032600-38035000	Weak transcription	Colon Smooth Muscle	Colon
15	chr12:38032600-38035000	Weak transcription	HSMMtube	muscle
16	chr12:38032800-38035000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr12:38033200-38038600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
18	chr12:38033400-38035600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:38033600-38035800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:38033800-38035000	Weak transcription	HUVEC	blood vessel
21	chr12:38034200-38038800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
22	chr12:38034400-38035000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr12:38034600-38035800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:38034600-38036000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
25	chr12:38034600-38038600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
26	chr12:38034800-38036600	ZNF genes & repeats	HepG2	liver
27	chr12:38035000-38035200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:38035000-38035200	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
29	chr12:38035000-38035200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
30	chr12:38035000-38035200	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
31	chr12:38035000-38035200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr12:38035000-38035200	ZNF genes & repeats	Ovary	ovary
33	chr12:38035000-38035200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
34	chr12:38035000-38035200	ZNF genes & repeats	Stomach Mucosa	stomach
35	chr12:38035000-38035200	ZNF genes & repeats	Thymus	Thymus
36	chr12:38035000-38035200	ZNF genes & repeats	Dnd41	blood
37	chr12:38035000-38035200	ZNF genes & repeats	Hela-S3	cervix
38	chr12:38035000-38035200	ZNF genes & repeats	HSMMtube	muscle
39	chr12:38035000-38035200	ZNF genes & repeats	NH-A	brain
40	chr12:38035000-38035200	ZNF genes & repeats	NHDF-Ad	bronchial
41	chr12:38035000-38035400	ZNF genes & repeats	Brain Anterior Caudate	brain
42	chr12:38035000-38035400	ZNF genes & repeats	GM12878-XiMat	blood
43	chr12:38035000-38035600	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
44	chr12:38035000-38035600	ZNF genes & repeats	Fetal Kidney	kidney
45	chr12:38035000-38035600	ZNF genes & repeats	Psoas Muscle	Psoas
46	chr12:38035000-38035800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
47	chr12:38035000-38035800	ZNF genes & repeats	Liver	Liver
48	chr12:38035000-38035800	ZNF genes & repeats	Colon Smooth Muscle	Colon
49	chr12:38035000-38035800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
50	chr12:38035000-38035800	ZNF genes & repeats	HUVEC	blood vessel

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