Variant report

Variant	nsv1037893
Chromosome Location	chr12:34550975-34787964
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:34275660..34276572-chr12:34778082..34778680,2	MCF-7	breast:
2	chr12:34543477..34545374-chr12:34550348..34552407,2	K562	blood:
3	chr12:34191233..34191868-chr12:34777963..34778741,2	MCF-7	breast:

Extended variants
information (count: 12792 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:12792 , 50 per page) page: 1 2 3 4 5 6 7 ... 256

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149907438	chr12:34550983-34550984	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs575431813	chr12:34551036-34551037	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147579758	chr12:34551041-34551042	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113295201	chr12:34551049-34551050	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532513721	chr12:34551073-34551074	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552613205	chr12:34551081-34551082	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141778380	chr12:34551093-34551094	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116205494	chr12:34551147-34551148	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74075977	chr12:34551151-34551152	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs568667699	chr12:34551192-34551193	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536371975	chr12:34551200-34551201	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145534369	chr12:34551209-34551210	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115503595	chr12:34551212-34551213	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539003095	chr12:34551215-34551216	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147754687	chr12:34551221-34551222	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7299982	chr12:34551222-34551223	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535568069	chr12:34551228-34551229	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149215429	chr12:34551250-34551251	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575366846	chr12:34551257-34551258	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114436806	chr12:34551288-34551289	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564331496	chr12:34551292-34551293	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7299999	chr12:34551353-34551354	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554322665	chr12:34551386-34551387	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549087872	chr12:34551392-34551393	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567624375	chr12:34551395-34551396	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74075979	chr12:34551401-34551402	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs534352109	chr12:34551411-34551412	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528557700	chr12:34551439-34551440	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372958302	chr12:34551455-34551456	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542282055	chr12:34551466-34551467	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537869173	chr12:34551472-34551473	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562058262	chr12:34551489-34551490	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556654718	chr12:34551490-34551491	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550767549	chr12:34551498-34551499	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570809497	chr12:34551514-34551515	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543544482	chr12:34551524-34551525	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143260936	chr12:34551545-34551546	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185721110	chr12:34551576-34551577	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566489332	chr12:34551577-34551578	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148299088	chr12:34551597-34551598	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572808303	chr12:34551608-34551609	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555405628	chr12:34551614-34551615	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73322156	chr12:34551625-34551626	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs74075981	chr12:34551630-34551631	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs558031197	chr12:34551631-34551632	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188985133	chr12:34551639-34551640	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113933191	chr12:34551640-34551641	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553804035	chr12:34551642-34551643	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181065292	chr12:34551663-34551664	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541869094	chr12:34551667-34551668	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
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
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
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	20967226	CNVD
Bipolar disorder	19214233	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD
Acute myeloid leukemia	20729466	CNVD

Chromatin state (count:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34480400-34559800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:34525800-34556200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
3	chr12:34538600-34558000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:34548000-34551800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
5	chr12:34549400-34560000	ZNF genes & repeats	Adipose Nuclei	Adipose
6	chr12:34549800-34560000	ZNF genes & repeats	Spleen	Spleen
7	chr12:34550200-34551000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
8	chr12:34550400-34552400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
9	chr12:34551000-34551400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:34551000-34552400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr12:34551000-34560200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
12	chr12:34553000-34553600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:34553000-34554200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
14	chr12:34554000-34554200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:34554800-34560400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:34555400-34560200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
17	chr12:34555600-34559400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
18	chr12:34555800-34556000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:34555800-34560200	ZNF genes & repeats	Gastric	stomach
20	chr12:34557800-34559800	ZNF genes & repeats	Colonic Mucosa	Colon
21	chr12:34558800-34560600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
22	chr12:34559200-34559600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
23	chr12:34559400-34560400	ZNF genes & repeats	Liver	Liver
24	chr12:34560800-34563600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:34561800-34562200	ZNF genes & repeats	Adipose Nuclei	Adipose
26	chr12:34564600-34572600	ZNF genes & repeats	Liver	Liver
27	chr12:34566800-34571000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
28	chr12:34569800-34576800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
29	chr12:34570400-34571200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:34573200-34574000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
31	chr12:34573600-34574600	ZNF genes & repeats	Brain Hippocampus Middle	brain
32	chr12:34573600-34575200	ZNF genes & repeats	Liver	Liver
33	chr12:34573600-34576600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:34573800-34575800	ZNF genes & repeats	Adipose Nuclei	Adipose
35	chr12:34574000-34575000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
36	chr12:34579600-34580200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:34580800-34582800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
38	chr12:34590400-34592600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
39	chr12:34593000-34595000	ZNF genes & repeats	Adipose Nuclei	Adipose
40	chr12:34600000-34603000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:34600800-34613400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
42	chr12:34601600-34603400	ZNF genes & repeats	Liver	Liver
43	chr12:34604600-34605600	Active TSS	Right Atrium	heart
44	chr12:34604600-34606000	ZNF genes & repeats	Liver	Liver
45	chr12:34605800-34606200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
46	chr12:34605800-34606200	Active TSS	Fetal Heart	heart
47	chr12:34610200-34614800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:34610400-34611200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
49	chr12:34611400-34614800	ZNF genes & repeats	Liver	Liver
50	chr12:34622400-34627400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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