Variant report

Variant	nsv558316
Chromosome Location	chr12:34565016-34853011
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	chr12:34191233..34191868-chr12:34777963..34778741,2	MCF-7	breast:
2	chr12:34844846..34846346-chr19:27730625..27733192,2	K562	blood:
3	chr10:42528102..42529921-chr12:34831375..34832895,2	K562	blood:
4	chr1:121482950..121485225-chr12:34844826..34846345,4	MCF-7	breast:
5	chr12:34844822..34846343-chr7:8071587..8073511,2	MCF-7	breast:
6	chr12:34275660..34276572-chr12:34778082..34778680,2	MCF-7	breast:
7	chr12:34844825..34846346-chr19:27731692..27733219,2	K562	blood:
8	chr12:34844445..34846343-chr19:27735903..27737749,2	K562	blood:
9	chr12:34844846..34846346-chr19:27731700..27733247,2	MCF-7	breast:
10	chr1:121483532..121485426-chr12:34844824..34846350,3	K562	blood:

No data

Extended variants
information (count: 18227 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:18227 , 50 per page) page: 1 2 3 4 5 6 7 ... 365

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7484787	chr12:34565016-34565017	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554561938	chr12:34565054-34565055	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs568390662	chr12:34565066-34565067	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs183577715	chr12:34565070-34565071	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs572760028	chr12:34565071-34565072	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs576510299	chr12:34565081-34565082	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs573411210	chr12:34565085-34565086	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs545480621	chr12:34565086-34565087	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs188969835	chr12:34565115-34565116	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs369516193	chr12:34565116-34565117	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs75383239	chr12:34565120-34565121	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs539853083	chr12:34565139-34565140	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs561409369	chr12:34565214-34565215	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs73307025	chr12:34565215-34565216	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs115456528	chr12:34565219-34565220	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs561810142	chr12:34565256-34565257	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs562896750	chr12:34565258-34565259	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs7487719	chr12:34565260-34565261	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs7487706	chr12:34565266-34565267	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs565813136	chr12:34565287-34565288	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs144009374	chr12:34565297-34565298	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs548397890	chr12:34565307-34565308	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs540698196	chr12:34565310-34565311	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs7485310	chr12:34565322-34565323	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs150508472	chr12:34565328-34565329	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs537311375	chr12:34565330-34565331	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs184985345	chr12:34565338-34565339	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs7487736	chr12:34565361-34565362	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs73307028	chr12:34565398-34565399	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs116875839	chr12:34565409-34565410	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs73095328	chr12:34565468-34565469	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs534824697	chr12:34565479-34565480	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs554715360	chr12:34565507-34565508	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs186638896	chr12:34565517-34565518	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs191449368	chr12:34565518-34565519	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs563678909	chr12:34565554-34565555	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs74775450	chr12:34565563-34565564	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs12422477	chr12:34565584-34565585	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs116098632	chr12:34565605-34565606	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs184843255	chr12:34565614-34565615	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs200564930	chr12:34565634-34565635	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs189722085	chr12:34565639-34565640	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs548000274	chr12:34565676-34565677	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs201835226	chr12:34565715-34565716	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs530769500	chr12:34565727-34565728	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs374702372	chr12:34565751-34565752	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs114866517	chr12:34565796-34565797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs570790083	chr12:34565807-34565808	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs112940254	chr12:34565818-34565819	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs113743481	chr12:34565821-34565822	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:754 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34564600-34572600	ZNF genes & repeats	Liver	Liver
2	chr12:34566800-34571000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
3	chr12:34569800-34576800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr12:34570400-34571200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:34573200-34574000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr12:34573600-34574600	ZNF genes & repeats	Brain Hippocampus Middle	brain
7	chr12:34573600-34575200	ZNF genes & repeats	Liver	Liver
8	chr12:34573600-34576600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:34573800-34575800	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr12:34574000-34575000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
11	chr12:34579600-34580200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:34580800-34582800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
13	chr12:34590400-34592600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
14	chr12:34593000-34595000	ZNF genes & repeats	Adipose Nuclei	Adipose
15	chr12:34600000-34603000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:34600800-34613400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
17	chr12:34601600-34603400	ZNF genes & repeats	Liver	Liver
18	chr12:34604600-34605600	Active TSS	Right Atrium	heart
19	chr12:34604600-34606000	ZNF genes & repeats	Liver	Liver
20	chr12:34605800-34606200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
21	chr12:34605800-34606200	Active TSS	Fetal Heart	heart
22	chr12:34610200-34614800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:34610400-34611200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
24	chr12:34611400-34614800	ZNF genes & repeats	Liver	Liver
25	chr12:34622400-34627400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
26	chr12:34623000-34626800	ZNF genes & repeats	Liver	Liver
27	chr12:34623400-34629800	ZNF genes & repeats	Adipose Nuclei	Adipose
28	chr12:34623800-34628800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
29	chr12:34626600-34628600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:34635600-34639800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:34636000-34659000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
32	chr12:34639400-34651200	ZNF genes & repeats	Adipose Nuclei	Adipose
33	chr12:34639600-34657000	ZNF genes & repeats	Liver	Liver
34	chr12:34642000-34647000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:34645000-34645800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
36	chr12:34645000-34645800	ZNF genes & repeats	HUVEC	blood vessel
37	chr12:34645200-34646200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
38	chr12:34645400-34645600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
39	chr12:34645400-34645600	ZNF genes & repeats	NH-A	brain
40	chr12:34645400-34645800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:34645400-34645800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
42	chr12:34645400-34645800	ZNF genes & repeats	Brain Angular Gyrus	brain
43	chr12:34645400-34645800	Active TSS	Ovary	ovary
44	chr12:34645400-34645800	Active TSS	Right Atrium	heart
45	chr12:34651000-34654000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
46	chr12:34652000-34654600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
47	chr12:34656400-34658800	ZNF genes & repeats	Adipose Nuclei	Adipose
48	chr12:34657000-34657600	Active TSS	Right Atrium	heart
49	chr12:34657400-34660000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
50	chr12:34658600-34664600	ZNF genes & repeats	Liver	Liver

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