Variant report

Variant	nsv1047125
Chromosome Location	chr12:34599315-34854486
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	chr12:34191233..34191868-chr12:34777963..34778741,2	MCF-7	breast:
2	chr12:34275660..34276572-chr12:34778082..34778680,2	MCF-7	breast:
3	chr1:121483532..121485426-chr12:34844824..34846350,3	K562	blood:
4	chr12:34844846..34846346-chr19:27731700..27733247,2	MCF-7	breast:
5	chr1:121482950..121485225-chr12:34844826..34846345,4	MCF-7	breast:
6	chr12:34844846..34846346-chr19:27730625..27733192,2	K562	blood:
7	chr12:34844445..34846343-chr19:27735903..27737749,2	K562	blood:
8	chr12:34844825..34846346-chr19:27731692..27733219,2	K562	blood:
9	chr10:42528102..42529921-chr12:34831375..34832895,2	K562	blood:
10	chr12:34844822..34846343-chr7:8071587..8073511,2	MCF-7	breast:

No data

Extended variants
information (count: 17291 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:17291 , 50 per page) page: 1 2 3 4 5 6 7 ... 346

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539254281	chr12:34600012-34600013	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs550700212	chr12:34600050-34600051	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs566409780	chr12:34600055-34600056	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs189177793	chr12:34600084-34600085	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs147776892	chr12:34600090-34600091	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs568967922	chr12:34600105-34600106	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs112895089	chr12:34600109-34600110	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs370393143	chr12:34600138-34600139	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs556661689	chr12:34600141-34600142	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs141100618	chr12:34600142-34600143	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs143515923	chr12:34600160-34600161	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs77353967	chr12:34600195-34600196	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs186505351	chr12:34600204-34600205	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs541408882	chr12:34600231-34600232	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs9706184	chr12:34600236-34600237	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs113255219	chr12:34600269-34600270	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs181718070	chr12:34600309-34600310	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs76202880	chr12:34600338-34600339	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs532735225	chr12:34600342-34600343	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs368289097	chr12:34600351-34600352	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs372383912	chr12:34600364-34600365	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs202023978	chr12:34600385-34600386	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs531322145	chr12:34600413-34600414	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs186163648	chr12:34600424-34600425	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs528822963	chr12:34600434-34600435	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs549820326	chr12:34600435-34600436	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs534162650	chr12:34600448-34600449	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs547534952	chr12:34600456-34600457	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs567936995	chr12:34600478-34600479	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs559168962	chr12:34600479-34600480	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs537067897	chr12:34600508-34600509	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs556623027	chr12:34600510-34600511	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs570241781	chr12:34600519-34600520	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs539248935	chr12:34600520-34600521	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs566215638	chr12:34600538-34600539	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs190930463	chr12:34600557-34600558	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs111442917	chr12:34600561-34600562	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs183386747	chr12:34600568-34600569	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs148004372	chr12:34600590-34600591	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs113278666	chr12:34600598-34600599	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs574705615	chr12:34600653-34600654	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs543869475	chr12:34600655-34600656	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs548862834	chr12:34600664-34600665	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs11837438	chr12:34600686-34600687	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs187721447	chr12:34600689-34600690	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs138378646	chr12:34600691-34600692	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs559944698	chr12:34600716-34600717	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs61932031	chr12:34600725-34600726	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs528707534	chr12:34600736-34600737	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs9705830	chr12:34600750-34600751	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:744 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34600000-34603000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:34600800-34613400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr12:34601600-34603400	ZNF genes & repeats	Liver	Liver
4	chr12:34604600-34605600	Active TSS	Right Atrium	heart
5	chr12:34604600-34606000	ZNF genes & repeats	Liver	Liver
6	chr12:34605800-34606200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr12:34605800-34606200	Active TSS	Fetal Heart	heart
8	chr12:34610200-34614800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:34610400-34611200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr12:34611400-34614800	ZNF genes & repeats	Liver	Liver
11	chr12:34622400-34627400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr12:34623000-34626800	ZNF genes & repeats	Liver	Liver
13	chr12:34623400-34629800	ZNF genes & repeats	Adipose Nuclei	Adipose
14	chr12:34623800-34628800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
15	chr12:34626600-34628600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:34635600-34639800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:34636000-34659000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
18	chr12:34639400-34651200	ZNF genes & repeats	Adipose Nuclei	Adipose
19	chr12:34639600-34657000	ZNF genes & repeats	Liver	Liver
20	chr12:34642000-34647000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:34645000-34645800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
22	chr12:34645000-34645800	ZNF genes & repeats	HUVEC	blood vessel
23	chr12:34645200-34646200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
24	chr12:34645400-34645600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
25	chr12:34645400-34645600	ZNF genes & repeats	NH-A	brain
26	chr12:34645400-34645800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:34645400-34645800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
28	chr12:34645400-34645800	ZNF genes & repeats	Brain Angular Gyrus	brain
29	chr12:34645400-34645800	Active TSS	Ovary	ovary
30	chr12:34645400-34645800	Active TSS	Right Atrium	heart
31	chr12:34651000-34654000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
32	chr12:34652000-34654600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
33	chr12:34656400-34658800	ZNF genes & repeats	Adipose Nuclei	Adipose
34	chr12:34657000-34657600	Active TSS	Right Atrium	heart
35	chr12:34657400-34660000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
36	chr12:34658600-34664600	ZNF genes & repeats	Liver	Liver
37	chr12:34658800-34664200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
38	chr12:34660800-34679200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
39	chr12:34661600-34663000	ZNF genes & repeats	Adipose Nuclei	Adipose
40	chr12:34662200-34670400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:34671800-34672000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:34673000-34673200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:34673800-34674000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:34682600-34683000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
45	chr12:34683200-34689200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
46	chr12:34684000-34708400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr12:34684200-34685000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
48	chr12:34685800-34687000	ZNF genes & repeats	Liver	Liver
49	chr12:34686000-34687400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
50	chr12:34688200-34688600	ZNF genes & repeats	Liver	Liver

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