Variant report

Variant	nsv1047650
Chromosome Location	chr12:34577799-34750705
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9324 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:9324 , 50 per page) page: 1 2 3 4 5 6 7 ... 187

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540608511	chr12:34579623-34579624	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs116452680	chr12:34579648-34579649	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs78179968	chr12:34579674-34579675	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs191302658	chr12:34579676-34579677	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs562213295	chr12:34579701-34579702	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs149961636	chr12:34579708-34579709	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs533360546	chr12:34579719-34579720	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs551116952	chr12:34579753-34579754	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs571364058	chr12:34579761-34579762	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs527574987	chr12:34579767-34579768	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs547423339	chr12:34579799-34579800	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs566836971	chr12:34579802-34579803	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs139828555	chr12:34579805-34579806	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs369809683	chr12:34579834-34579835	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs569325702	chr12:34579851-34579852	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs538350724	chr12:34579860-34579861	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs143151145	chr12:34579871-34579872	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs578142289	chr12:34579892-34579893	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs540896680	chr12:34579925-34579926	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs566942632	chr12:34579933-34579934	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs574288311	chr12:34579947-34579948	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs542190112	chr12:34579968-34579969	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs9706208	chr12:34579976-34579977	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs113923115	chr12:34579991-34579992	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs531267754	chr12:34579995-34579996	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs555920289	chr12:34580020-34580021	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs112499997	chr12:34580021-34580022	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs565088160	chr12:34580025-34580026	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs527522765	chr12:34580042-34580043	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs559054079	chr12:34580044-34580045	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs567413564	chr12:34580063-34580064	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs530018977	chr12:34580066-34580067	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs549356566	chr12:34580067-34580068	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs115853042	chr12:34580089-34580090	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs538338232	chr12:34580112-34580113	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs558309437	chr12:34580119-34580120	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs148850415	chr12:34580126-34580127	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs183053272	chr12:34580136-34580137	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs554368718	chr12:34580139-34580140	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs574208084	chr12:34580144-34580145	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs58955776	chr12:34580162-34580163	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs555732011	chr12:34580179-34580180	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs186797022	chr12:34580182-34580183	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs551443364	chr12:34580802-34580803	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs9705640	chr12:34580813-34580814	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs573880330	chr12:34580825-34580826	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs138527848	chr12:34580837-34580838	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs547919308	chr12:34580840-34580841	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs11829122	chr12:34580845-34580846	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs536484090	chr12:34580863-34580864	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:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34579600-34580200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:34580800-34582800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr12:34590400-34592600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr12:34593000-34595000	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr12:34600000-34603000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:34600800-34613400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr12:34601600-34603400	ZNF genes & repeats	Liver	Liver
8	chr12:34604600-34605600	Active TSS	Right Atrium	heart
9	chr12:34604600-34606000	ZNF genes & repeats	Liver	Liver
10	chr12:34605800-34606200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
11	chr12:34605800-34606200	Active TSS	Fetal Heart	heart
12	chr12:34610200-34614800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:34610400-34611200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
14	chr12:34611400-34614800	ZNF genes & repeats	Liver	Liver
15	chr12:34622400-34627400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
16	chr12:34623000-34626800	ZNF genes & repeats	Liver	Liver
17	chr12:34623400-34629800	ZNF genes & repeats	Adipose Nuclei	Adipose
18	chr12:34623800-34628800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
19	chr12:34626600-34628600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:34635600-34639800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:34636000-34659000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
22	chr12:34639400-34651200	ZNF genes & repeats	Adipose Nuclei	Adipose
23	chr12:34639600-34657000	ZNF genes & repeats	Liver	Liver
24	chr12:34642000-34647000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:34645000-34645800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
26	chr12:34645000-34645800	ZNF genes & repeats	HUVEC	blood vessel
27	chr12:34645200-34646200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
28	chr12:34645400-34645600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:34645400-34645600	ZNF genes & repeats	NH-A	brain
30	chr12:34645400-34645800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:34645400-34645800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
32	chr12:34645400-34645800	ZNF genes & repeats	Brain Angular Gyrus	brain
33	chr12:34645400-34645800	Active TSS	Ovary	ovary
34	chr12:34645400-34645800	Active TSS	Right Atrium	heart
35	chr12:34651000-34654000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
36	chr12:34652000-34654600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
37	chr12:34656400-34658800	ZNF genes & repeats	Adipose Nuclei	Adipose
38	chr12:34657000-34657600	Active TSS	Right Atrium	heart
39	chr12:34657400-34660000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
40	chr12:34658600-34664600	ZNF genes & repeats	Liver	Liver
41	chr12:34658800-34664200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
42	chr12:34660800-34679200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
43	chr12:34661600-34663000	ZNF genes & repeats	Adipose Nuclei	Adipose
44	chr12:34662200-34670400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:34671800-34672000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:34673000-34673200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr12:34673800-34674000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:34682600-34683000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
49	chr12:34683200-34689200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
50	chr12:34684000-34708400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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