Variant report

Variant	nsv1047994
Chromosome Location	chr12:34611499-34854486
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	chr12:34844846..34846346-chr19:27731700..27733247,2	MCF-7	breast:
2	chr12:34844825..34846346-chr19:27731692..27733219,2	K562	blood:
3	chr1:121482950..121485225-chr12:34844826..34846345,4	MCF-7	breast:
4	chr12:34275660..34276572-chr12:34778082..34778680,2	MCF-7	breast:
5	chr12:34191233..34191868-chr12:34777963..34778741,2	MCF-7	breast:
6	chr12:34844822..34846343-chr7:8071587..8073511,2	MCF-7	breast:
7	chr1:121483532..121485426-chr12:34844824..34846350,3	K562	blood:
8	chr10:42528102..42529921-chr12:34831375..34832895,2	K562	blood:
9	chr12:34844846..34846346-chr19:27730625..27733192,2	K562	blood:
10	chr12:34844445..34846343-chr19:27735903..27737749,2	K562	blood:

No data

Extended variants
information (count: 16487 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:16487 , 50 per page) page: 1 2 3 4 5 6 7 ... 330

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541499429	chr12:34611499-34611500	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs368910952	chr12:34611503-34611504	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs561730542	chr12:34611509-34611510	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs117506270	chr12:34611541-34611542	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs538491094	chr12:34611542-34611543	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs376705872	chr12:34611543-34611544	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs544316151	chr12:34611545-34611546	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs564239260	chr12:34611549-34611550	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs145453230	chr12:34611574-34611575	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs186758412	chr12:34611587-34611588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs9669275	chr12:34611599-34611600	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs202010441	chr12:34611600-34611601	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs578259114	chr12:34611604-34611605	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs528476918	chr12:34611610-34611611	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs9669664	chr12:34611625-34611626	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs568447688	chr12:34611662-34611663	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs191495309	chr12:34611668-34611669	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs551071196	chr12:34611669-34611670	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs114722824	chr12:34611671-34611672	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs539354669	chr12:34611674-34611675	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs539689611	chr12:34611709-34611710	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs532781852	chr12:34611722-34611723	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs554106834	chr12:34611731-34611732	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs553239798	chr12:34611736-34611737	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs573158019	chr12:34611760-34611761	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs182121313	chr12:34611776-34611777	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs74557561	chr12:34611782-34611783	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs76337656	chr12:34611787-34611788	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs75632738	chr12:34611792-34611793	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs78198878	chr12:34611796-34611797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs555034937	chr12:34611798-34611799	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs78556455	chr12:34611800-34611801	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs75422564	chr12:34611803-34611804	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs75533242	chr12:34611805-34611806	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs186153414	chr12:34611807-34611808	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs543065066	chr12:34611808-34611809	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs79089538	chr12:34611809-34611810	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs78680199	chr12:34611811-34611812	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs76522401	chr12:34611814-34611815	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs138397777	chr12:34611815-34611816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs117756039	chr12:34611817-34611818	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs79838922	chr12:34611830-34611831	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs540474481	chr12:34611850-34611851	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs560398770	chr12:34611865-34611866	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs529132604	chr12:34611877-34611878	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs563656352	chr12:34611890-34611891	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs561902566	chr12:34611920-34611921	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs190920629	chr12:34611930-34611931	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs58238273	chr12:34611941-34611942	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs570649656	chr12:34611963-34611964	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
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:737 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34600800-34613400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr12:34610200-34614800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:34611400-34614800	ZNF genes & repeats	Liver	Liver
4	chr12:34622400-34627400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr12:34623000-34626800	ZNF genes & repeats	Liver	Liver
6	chr12:34623400-34629800	ZNF genes & repeats	Adipose Nuclei	Adipose
7	chr12:34623800-34628800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
8	chr12:34626600-34628600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:34635600-34639800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:34636000-34659000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
11	chr12:34639400-34651200	ZNF genes & repeats	Adipose Nuclei	Adipose
12	chr12:34639600-34657000	ZNF genes & repeats	Liver	Liver
13	chr12:34642000-34647000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:34645000-34645800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
15	chr12:34645000-34645800	ZNF genes & repeats	HUVEC	blood vessel
16	chr12:34645200-34646200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
17	chr12:34645400-34645600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:34645400-34645600	ZNF genes & repeats	NH-A	brain
19	chr12:34645400-34645800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:34645400-34645800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
21	chr12:34645400-34645800	ZNF genes & repeats	Brain Angular Gyrus	brain
22	chr12:34645400-34645800	Active TSS	Ovary	ovary
23	chr12:34645400-34645800	Active TSS	Right Atrium	heart
24	chr12:34651000-34654000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
25	chr12:34652000-34654600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
26	chr12:34656400-34658800	ZNF genes & repeats	Adipose Nuclei	Adipose
27	chr12:34657000-34657600	Active TSS	Right Atrium	heart
28	chr12:34657400-34660000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
29	chr12:34658600-34664600	ZNF genes & repeats	Liver	Liver
30	chr12:34658800-34664200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
31	chr12:34660800-34679200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
32	chr12:34661600-34663000	ZNF genes & repeats	Adipose Nuclei	Adipose
33	chr12:34662200-34670400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:34671800-34672000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:34673000-34673200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:34673800-34674000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:34682600-34683000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
38	chr12:34683200-34689200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
39	chr12:34684000-34708400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:34684200-34685000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
41	chr12:34685800-34687000	ZNF genes & repeats	Liver	Liver
42	chr12:34686000-34687400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
43	chr12:34688200-34688600	ZNF genes & repeats	Liver	Liver
44	chr12:34689800-34707200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
45	chr12:34690600-34691000	Active TSS	Aorta	Aorta
46	chr12:34691800-34698400	ZNF genes & repeats	Adipose Nuclei	Adipose
47	chr12:34693200-34693400	ZNF genes & repeats	Liver	Liver
48	chr12:34693800-34701400	ZNF genes & repeats	Liver	Liver
49	chr12:34696000-34696800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:34699800-34711400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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