Variant report

Variant	nsv1052108
Chromosome Location	chr12:34559297-34854486
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:34844822..34846343-chr7:8071587..8073511,2	MCF-7	breast:
2	chr12:34844846..34846346-chr19:27730625..27733192,2	K562	blood:
3	chr1:121483532..121485426-chr12:34844824..34846350,3	K562	blood:
4	chr1:121482950..121485225-chr12:34844826..34846345,4	MCF-7	breast:
5	chr12:34191233..34191868-chr12:34777963..34778741,2	MCF-7	breast:
6	chr10:42528102..42529921-chr12:34831375..34832895,2	K562	blood:
7	chr12:34844825..34846346-chr19:27731692..27733219,2	K562	blood:
8	chr12:34275660..34276572-chr12:34778082..34778680,2	MCF-7	breast:
9	chr12:34844846..34846346-chr19:27731700..27733247,2	MCF-7	breast:
10	chr12:34844445..34846343-chr19:27735903..27737749,2	K562	blood:

No data

Extended variants
information (count: 18793 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:18793 , 50 per page) page: 1 2 3 4 5 6 7 ... 376

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11053280	chr12:34559297-34559298	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557174127	chr12:34559303-34559304	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs576966077	chr12:34559306-34559307	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs545973878	chr12:34559325-34559326	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs541827068	chr12:34559354-34559355	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs74077626	chr12:34559355-34559356	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs190627475	chr12:34559367-34559368	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs369399285	chr12:34559370-34559371	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs149554429	chr12:34559385-34559386	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs372844879	chr12:34559392-34559393	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs115561412	chr12:34559393-34559394	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs376036099	chr12:34559405-34559406	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs147279284	chr12:34559428-34559429	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs550868271	chr12:34559434-34559435	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs544236711	chr12:34559435-34559436	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs564009439	chr12:34559442-34559443	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs74974880	chr12:34559453-34559454	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs140799473	chr12:34559462-34559463	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs566638779	chr12:34559485-34559486	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs529111150	chr12:34559509-34559510	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs548959779	chr12:34559516-34559517	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs183178253	chr12:34559524-34559525	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs74077627	chr12:34559527-34559528	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs186398942	chr12:34559533-34559534	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs570592631	chr12:34559538-34559539	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs74077628	chr12:34559540-34559541	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs553057933	chr12:34559541-34559542	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs73307009	chr12:34559549-34559550	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs370460951	chr12:34559578-34559579	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs74077630	chr12:34559585-34559586	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs575926129	chr12:34559588-34559589	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs543839787	chr12:34559614-34559615	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs192424821	chr12:34559650-34559651	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs144455528	chr12:34559656-34559657	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs61932002	chr12:34559657-34559658	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs560292730	chr12:34559661-34559662	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs116638875	chr12:34559663-34559664	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs549204623	chr12:34559664-34559665	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs147822976	chr12:34559669-34559670	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs377655624	chr12:34559688-34559689	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs183990089	chr12:34559689-34559690	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs530034445	chr12:34559701-34559702	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs570470220	chr12:34559702-34559703	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs187744313	chr12:34559704-34559705	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs192324368	chr12:34559709-34559710	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs566665035	chr12:34559713-34559714	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs535657016	chr12:34559720-34559721	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs117864013	chr12:34559724-34559725	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs142708120	chr12:34559726-34559727	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs182509168	chr12:34559753-34559754	ZNF genes & repeats	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	22037309	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute myeloid leukemia	20729466	CNVD

Chromatin state (count:772 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

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	chr12:34549400-34560000	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr12:34549800-34560000	ZNF genes & repeats	Spleen	Spleen
4	chr12:34551000-34560200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
5	chr12:34554800-34560400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:34555400-34560200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
7	chr12:34555600-34559400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
8	chr12:34555800-34560200	ZNF genes & repeats	Gastric	stomach
9	chr12:34557800-34559800	ZNF genes & repeats	Colonic Mucosa	Colon
10	chr12:34558800-34560600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
11	chr12:34559200-34559600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
12	chr12:34559400-34560400	ZNF genes & repeats	Liver	Liver
13	chr12:34560800-34563600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:34561800-34562200	ZNF genes & repeats	Adipose Nuclei	Adipose
15	chr12:34564600-34572600	ZNF genes & repeats	Liver	Liver
16	chr12:34566800-34571000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
17	chr12:34569800-34576800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
18	chr12:34570400-34571200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:34573200-34574000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
20	chr12:34573600-34574600	ZNF genes & repeats	Brain Hippocampus Middle	brain
21	chr12:34573600-34575200	ZNF genes & repeats	Liver	Liver
22	chr12:34573600-34576600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:34573800-34575800	ZNF genes & repeats	Adipose Nuclei	Adipose
24	chr12:34574000-34575000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
25	chr12:34579600-34580200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:34580800-34582800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
27	chr12:34590400-34592600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
28	chr12:34593000-34595000	ZNF genes & repeats	Adipose Nuclei	Adipose
29	chr12:34600000-34603000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:34600800-34613400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
31	chr12:34601600-34603400	ZNF genes & repeats	Liver	Liver
32	chr12:34604600-34605600	Active TSS	Right Atrium	heart
33	chr12:34604600-34606000	ZNF genes & repeats	Liver	Liver
34	chr12:34605800-34606200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
35	chr12:34605800-34606200	Active TSS	Fetal Heart	heart
36	chr12:34610200-34614800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:34610400-34611200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
38	chr12:34611400-34614800	ZNF genes & repeats	Liver	Liver
39	chr12:34622400-34627400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
40	chr12:34623000-34626800	ZNF genes & repeats	Liver	Liver
41	chr12:34623400-34629800	ZNF genes & repeats	Adipose Nuclei	Adipose
42	chr12:34623800-34628800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
43	chr12:34626600-34628600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:34635600-34639800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:34636000-34659000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
46	chr12:34639400-34651200	ZNF genes & repeats	Adipose Nuclei	Adipose
47	chr12:34639600-34657000	ZNF genes & repeats	Liver	Liver
48	chr12:34642000-34647000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr12:34645000-34645800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
50	chr12:34645000-34645800	ZNF genes & repeats	HUVEC	blood vessel

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