Variant report

Variant	nsv1036049
Chromosome Location	chr12:34654797-34854486
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	chr12:34275660..34276572-chr12:34778082..34778680,2	MCF-7	breast:
2	chr10:42528102..42529921-chr12:34831375..34832895,2	K562	blood:
3	chr12:34844846..34846346-chr19:27730625..27733192,2	K562	blood:
4	chr12:34191233..34191868-chr12:34777963..34778741,2	MCF-7	breast:
5	chr12:34844445..34846343-chr19:27735903..27737749,2	K562	blood:
6	chr12:34844822..34846343-chr7:8071587..8073511,2	MCF-7	breast:
7	chr1:121483532..121485426-chr12:34844824..34846350,3	K562	blood:
8	chr12:34844846..34846346-chr19:27731700..27733247,2	MCF-7	breast:
9	chr1:121482950..121485225-chr12:34844826..34846345,4	MCF-7	breast:
10	chr12:34844825..34846346-chr19:27731692..27733219,2	K562	blood:

No data

Extended variants
information (count: 14395 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:14395 , 50 per page) page: 1 2 3 4 5 6 7 ... 288

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141962912	chr12:34654802-34654803	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs564165038	chr12:34654821-34654822	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs12820922	chr12:34654823-34654824	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs12821208	chr12:34654829-34654830	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs150633860	chr12:34654836-34654837	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs186833690	chr12:34654869-34654870	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs560079220	chr12:34654879-34654880	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs12821094	chr12:34654885-34654886	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs12821097	chr12:34654889-34654890	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs149761478	chr12:34654902-34654903	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs73099221	chr12:34654931-34654932	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs67863908	chr12:34654945-34654946	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs530892274	chr12:34654954-34654955	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs532047441	chr12:34654955-34654956	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs201611120	chr12:34654958-34654959	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs191756090	chr12:34654984-34654985	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs570972875	chr12:34655010-34655011	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs539542868	chr12:34655031-34655032	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs547207030	chr12:34655039-34655040	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs146302725	chr12:34655043-34655044	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs556184230	chr12:34655049-34655050	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs11837899	chr12:34655054-34655055	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs555608749	chr12:34655069-34655070	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs373174327	chr12:34655094-34655095	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs574905263	chr12:34655097-34655098	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs184343466	chr12:34655104-34655105	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs537399586	chr12:34655107-34655108	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs557462250	chr12:34655175-34655176	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs577706334	chr12:34655176-34655177	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs11835427	chr12:34655202-34655203	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs560322570	chr12:34655213-34655214	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs577758846	chr12:34655214-34655215	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs187440907	chr12:34655238-34655239	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs573851398	chr12:34655271-34655272	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs139564334	chr12:34655276-34655277	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs192967771	chr12:34655277-34655278	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs562730739	chr12:34655299-34655300	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs144143970	chr12:34655306-34655307	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs185334794	chr12:34655311-34655312	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs545102153	chr12:34655315-34655316	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs533496783	chr12:34655326-34655327	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs114699285	chr12:34655337-34655338	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs563200806	chr12:34655344-34655345	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs146527895	chr12:34655394-34655395	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs149079743	chr12:34655399-34655400	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs553942576	chr12:34655402-34655403	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs142176644	chr12:34655432-34655433	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs115420120	chr12:34655450-34655451	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs151159960	chr12:34655451-34655452	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs79691483	chr12:34655465-34655466	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
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:714 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34636000-34659000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr12:34639600-34657000	ZNF genes & repeats	Liver	Liver
3	chr12:34656400-34658800	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr12:34657000-34657600	Active TSS	Right Atrium	heart
5	chr12:34657400-34660000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
6	chr12:34658600-34664600	ZNF genes & repeats	Liver	Liver
7	chr12:34658800-34664200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
8	chr12:34660800-34679200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr12:34661600-34663000	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr12:34662200-34670400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:34671800-34672000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:34673000-34673200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:34673800-34674000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:34682600-34683000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
15	chr12:34683200-34689200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
16	chr12:34684000-34708400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:34684200-34685000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
18	chr12:34685800-34687000	ZNF genes & repeats	Liver	Liver
19	chr12:34686000-34687400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
20	chr12:34688200-34688600	ZNF genes & repeats	Liver	Liver
21	chr12:34689800-34707200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
22	chr12:34690600-34691000	Active TSS	Aorta	Aorta
23	chr12:34691800-34698400	ZNF genes & repeats	Adipose Nuclei	Adipose
24	chr12:34693200-34693400	ZNF genes & repeats	Liver	Liver
25	chr12:34693800-34701400	ZNF genes & repeats	Liver	Liver
26	chr12:34696000-34696800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:34699800-34711400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
28	chr12:34704000-34714600	ZNF genes & repeats	Liver	Liver
29	chr12:34704600-34706800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
30	chr12:34707200-34708400	ZNF genes & repeats	Adipose Nuclei	Adipose
31	chr12:34709800-34713600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
32	chr12:34712400-34728200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:34712800-34716000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
34	chr12:34717000-34717400	ZNF genes & repeats	Adipose Nuclei	Adipose
35	chr12:34719600-34722000	ZNF genes & repeats	Liver	Liver
36	chr12:34720800-34721200	Active TSS	Aorta	Aorta
37	chr12:34720800-34721400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
38	chr12:34721200-34726600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
39	chr12:34723200-34727200	ZNF genes & repeats	Liver	Liver
40	chr12:34724400-34726400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
41	chr12:34725400-34727800	ZNF genes & repeats	Adipose Nuclei	Adipose
42	chr12:34731000-34733400	ZNF genes & repeats	Liver	Liver
43	chr12:34735400-34748800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:34736800-34750800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
45	chr12:34737200-34740600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
46	chr12:34737800-34751000	ZNF genes & repeats	Liver	Liver
47	chr12:34738800-34739800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:34739800-34749400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
49	chr12:34740800-34741400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
50	chr12:34742000-34742400	ZNF genes & repeats	Adipose Nuclei	Adipose

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