Variant report

Variant	nsv1048231
Chromosome Location	chr12:34730341-34854486
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	chr12:34844825..34846346-chr19:27731692..27733219,2	K562	blood:
2	chr12:34275660..34276572-chr12:34778082..34778680,2	MCF-7	breast:
3	chr12:34844822..34846343-chr7:8071587..8073511,2	MCF-7	breast:
4	chr12:34844846..34846346-chr19:27730625..27733192,2	K562	blood:
5	chr1:121482950..121485225-chr12:34844826..34846345,4	MCF-7	breast:
6	chr1:121483532..121485426-chr12:34844824..34846350,3	K562	blood:
7	chr10:42528102..42529921-chr12:34831375..34832895,2	K562	blood:
8	chr12:34844445..34846343-chr19:27735903..27737749,2	K562	blood:
9	chr12:34844846..34846346-chr19:27731700..27733247,2	MCF-7	breast:
10	chr12:34191233..34191868-chr12:34777963..34778741,2	MCF-7	breast:

No data

Extended variants
information (count: 9747 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:9747 , 50 per page) page: 1 2 3 4 5 6 7 ... 195

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537982306	chr12:34731005-34731006	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs377336547	chr12:34731031-34731032	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs9669001	chr12:34731041-34731042	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs577918805	chr12:34731051-34731052	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs184792108	chr12:34731075-34731076	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs560412327	chr12:34731088-34731089	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs146467477	chr12:34731108-34731109	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs542887334	chr12:34731126-34731127	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs561974902	chr12:34731132-34731133	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs56697043	chr12:34731136-34731137	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs367594582	chr12:34731138-34731139	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs542245670	chr12:34731141-34731142	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs544344472	chr12:34731153-34731154	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs564194062	chr12:34731165-34731166	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs371680355	chr12:34731220-34731221	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs546841178	chr12:34731230-34731231	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs560874841	chr12:34731240-34731241	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs567172269	chr12:34731250-34731251	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs542273169	chr12:34731256-34731257	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs529586064	chr12:34731286-34731287	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs549634195	chr12:34731291-34731292	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs568921847	chr12:34731312-34731313	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs560652788	chr12:34731313-34731314	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs148324132	chr12:34731321-34731322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs140705044	chr12:34731338-34731339	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs9919766	chr12:34731374-34731375	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs116909988	chr12:34731380-34731381	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs386762105	chr12:34731389-34731390	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs9919767	chr12:34731391-34731392	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs11502878	chr12:34731396-34731397	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs11502879	chr12:34731424-34731425	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs575237211	chr12:34731425-34731426	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs544158456	chr12:34731454-34731455	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs564254202	chr12:34731506-34731507	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs74488990	chr12:34731552-34731553	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs398098136	chr12:34731553-34731554	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs533238587	chr12:34731569-34731570	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs150397938	chr12:34731570-34731571	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs560554761	chr12:34731576-34731577	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs529489795	chr12:34731653-34731654	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs549416919	chr12:34731655-34731656	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs540724904	chr12:34731683-34731684	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs369658323	chr12:34731686-34731687	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs374690665	chr12:34731688-34731689	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs189473062	chr12:34731690-34731691	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs367735098	chr12:34731709-34731710	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs371460173	chr12:34731711-34731712	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs548676846	chr12:34731723-34731724	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs551369277	chr12:34731733-34731734	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs570176367	chr12:34731734-34731735	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:673 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34731000-34733400	ZNF genes & repeats	Liver	Liver
2	chr12:34735400-34748800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:34736800-34750800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr12:34737200-34740600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr12:34737800-34751000	ZNF genes & repeats	Liver	Liver
6	chr12:34738800-34739800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:34739800-34749400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
8	chr12:34740800-34741400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
9	chr12:34742000-34742400	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr12:34742400-34743000	Active TSS	Right Atrium	heart
11	chr12:34742400-34750600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
12	chr12:34743000-34753400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
13	chr12:34747400-34758800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:34747800-34761200	ZNF genes & repeats	Adipose Nuclei	Adipose
15	chr12:34748600-34748800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
16	chr12:34748800-34751200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:34748800-34752400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:34749000-34760600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
19	chr12:34749200-34750800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
20	chr12:34750000-34751000	ZNF genes & repeats	Spleen	Spleen
21	chr12:34752600-34752800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
22	chr12:34752800-34754400	ZNF genes & repeats	Fetal Stomach	stomach
23	chr12:34752800-34761000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr12:34753000-34757600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
25	chr12:34757600-34758200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:34758000-34761000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
27	chr12:34759000-34761000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
28	chr12:34767000-34767400	ZNF genes & repeats	Adipose Nuclei	Adipose
29	chr12:34768000-34770200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
30	chr12:34768000-34770800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:34768200-34769200	ZNF genes & repeats	Liver	Liver
32	chr12:34773800-34777200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
33	chr12:34777800-34778200	Enhancers	Aorta	Aorta
34	chr12:34778400-34780000	Enhancers	Liver	Liver
35	chr12:34779200-34779400	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr12:34784600-34786600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:34785600-34792600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
38	chr12:34786600-34789200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
39	chr12:34787000-34787400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
40	chr12:34798800-34802200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
41	chr12:34798800-34808000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:34799000-34799400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:34799000-34799400	ZNF genes & repeats	Colon Smooth Muscle	Colon
44	chr12:34799000-34802600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
45	chr12:34799000-34803600	ZNF genes & repeats	Adipose Nuclei	Adipose
46	chr12:34799000-34805200	ZNF genes & repeats	Liver	Liver
47	chr12:34799200-34799400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr12:34799200-34799400	ZNF genes & repeats	Fetal Lung	lung
49	chr12:34799200-34799400	ZNF genes & repeats	GM12878-XiMat	blood
50	chr12:34799200-34810000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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