Variant report

Variant	nsv1053483
Chromosome Location	chr12:34753608-34854486
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	chr12:34844822..34846343-chr7:8071587..8073511,2	MCF-7	breast:
3	chr12:34844825..34846346-chr19:27731692..27733219,2	K562	blood:
4	chr12:34844445..34846343-chr19:27735903..27737749,2	K562	blood:
5	chr1:121482950..121485225-chr12:34844826..34846345,4	MCF-7	breast:
6	chr12:34191233..34191868-chr12:34777963..34778741,2	MCF-7	breast:
7	chr12:34844846..34846346-chr19:27730625..27733192,2	K562	blood:
8	chr12:34275660..34276572-chr12:34778082..34778680,2	MCF-7	breast:
9	chr10:42528102..42529921-chr12:34831375..34832895,2	K562	blood:
10	chr1:121483532..121485426-chr12:34844824..34846350,3	K562	blood:

No data

Extended variants
information (count: 8183 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:8183 , 50 per page) page: 1 2 3 4 5 6 7 ... 164

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12310268	chr12:34753608-34753609	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs556700120	chr12:34753634-34753635	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs141557525	chr12:34753637-34753638	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs150907352	chr12:34753639-34753640	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs559527881	chr12:34753644-34753645	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs180952745	chr12:34753651-34753652	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs184698807	chr12:34753662-34753663	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs561878677	chr12:34753670-34753671	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs74072770	chr12:34753694-34753695	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs189610710	chr12:34753697-34753698	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs570389948	chr12:34753699-34753700	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs532405013	chr12:34753711-34753712	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs117431184	chr12:34753716-34753717	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs565882779	chr12:34753722-34753723	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs201902106	chr12:34753725-34753726	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs535070234	chr12:34753735-34753736	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs74072771	chr12:34753736-34753737	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs139654086	chr12:34753749-34753750	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs568606998	chr12:34753777-34753778	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs564396661	chr12:34753789-34753790	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs537370264	chr12:34753803-34753804	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs370552025	chr12:34753816-34753817	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs557707656	chr12:34753828-34753829	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs577575821	chr12:34753829-34753830	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs545821382	chr12:34753831-34753832	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs181813106	chr12:34753850-34753851	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs572894921	chr12:34753851-34753852	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs541896348	chr12:34753852-34753853	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs535377642	chr12:34753865-34753866	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs530756758	chr12:34753871-34753872	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs544042995	chr12:34753872-34753873	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs540266349	chr12:34753898-34753899	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs72480076	chr12:34753901-34753902	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs552200237	chr12:34753904-34753905	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs142954002	chr12:34753910-34753911	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs368179914	chr12:34753913-34753914	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs548639861	chr12:34753921-34753922	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs568432602	chr12:34753923-34753924	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs537665355	chr12:34753938-34753939	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs551152256	chr12:34753952-34753953	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs571161921	chr12:34753953-34753954	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs113479407	chr12:34753955-34753956	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs540130226	chr12:34753970-34753971	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs553040571	chr12:34753979-34753980	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs572778152	chr12:34753982-34753983	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs535080210	chr12:34753992-34753993	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs555456416	chr12:34754017-34754018	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs575209855	chr12:34754026-34754027	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs9669078	chr12:34754055-34754056	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs563936437	chr12:34754058-34754059	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:655 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34747400-34758800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:34747800-34761200	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr12:34749000-34760600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
4	chr12:34752800-34754400	ZNF genes & repeats	Fetal Stomach	stomach
5	chr12:34752800-34761000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:34753000-34757600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
7	chr12:34757600-34758200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:34758000-34761000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
9	chr12:34759000-34761000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
10	chr12:34767000-34767400	ZNF genes & repeats	Adipose Nuclei	Adipose
11	chr12:34768000-34770200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
12	chr12:34768000-34770800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:34768200-34769200	ZNF genes & repeats	Liver	Liver
14	chr12:34773800-34777200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr12:34777800-34778200	Enhancers	Aorta	Aorta
16	chr12:34778400-34780000	Enhancers	Liver	Liver
17	chr12:34779200-34779400	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr12:34784600-34786600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:34785600-34792600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
20	chr12:34786600-34789200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
21	chr12:34787000-34787400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
22	chr12:34798800-34802200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
23	chr12:34798800-34808000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:34799000-34799400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:34799000-34799400	ZNF genes & repeats	Colon Smooth Muscle	Colon
26	chr12:34799000-34802600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
27	chr12:34799000-34803600	ZNF genes & repeats	Adipose Nuclei	Adipose
28	chr12:34799000-34805200	ZNF genes & repeats	Liver	Liver
29	chr12:34799200-34799400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr12:34799200-34799400	ZNF genes & repeats	Fetal Lung	lung
31	chr12:34799200-34799400	ZNF genes & repeats	GM12878-XiMat	blood
32	chr12:34799200-34810000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
33	chr12:34800400-34800800	ZNF genes & repeats	Psoas Muscle	Psoas
34	chr12:34801400-34801800	Active TSS	Fetal Heart	heart
35	chr12:34801400-34801800	ZNF genes & repeats	Left Ventricle	heart
36	chr12:34801400-34802600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:34801600-34801800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:34801600-34801800	ZNF genes & repeats	Brain Angular Gyrus	brain
39	chr12:34808600-34812200	ZNF genes & repeats	Adipose Nuclei	Adipose
40	chr12:34812800-34816800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:34825400-34826000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr12:34825400-34856400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
43	chr12:34825600-34826000	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr12:34825600-34826000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
45	chr12:34825800-34855800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
46	chr12:34825800-34856400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr12:34830400-34839200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
48	chr12:34830800-34832200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:34830800-34832400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
50	chr12:34831200-34832000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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