Variant report

Variant	nsv1034366
Chromosome Location	chr8:46912015-47024380
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:1494211..1494730-chr8:46940868..46941388,2	MCF-7	breast:
2	chr22:28194390..28194890-chr8:46940890..46941394,2	MCF-7	breast:
3	chr1:156185756..156186427-chr8:46940757..46941368,2	K562	blood:
4	chr8:46940855..46941726-chr8:47130252..47130754,2	K562	blood:
5	chr19:21665377..21666008-chr8:46940755..46941391,3	MCF-7	breast:
6	chr11:10829784..10830763-chr8:46940754..46941373,2	MCF-7	breast:
7	chr19:23254194..23254711-chr8:46940869..46941389,2	MCF-7	breast:
8	chr1:112439856..112440376-chr8:46940777..46941392,3	MCF-7	breast:
9	chr19:21665376..21665988-chr8:46940890..46941394,3	MCF-7	breast:
10	chr8:46940678..46941746-chr8:47130003..47131748,8	MCF-7	breast:
11	chr8:46948914..46951388-chr8:46959571..46961840,2	K562	blood:
12	chr8:46948914..46951388-chr8:46959571..46961840,2	K562	blood:
13	chr8:46940536..46941325-chr8:47868294..47869211,2	K562	blood:
14	chr20:26190442..26190988-chr8:46940868..46941390,2	MCF-7	breast:
15	chr4:107699957..107700477-chr8:46940755..46941372,3	MCF-7	breast:
16	chr2:133016687..133017416-chr8:46947342..46948320,4	MCF-7	breast:
17	chr10:42530427..42532590-chr8:46977725..46979226,2	MCF-7	breast:
18	chr22:25265936..25266456-chr8:46940874..46941393,2	MCF-7	breast:
19	chr3:19097583..19098083-chr8:46940757..46941373,3	MCF-7	breast:
20	chr19:23254197..23254711-chr8:46940755..46941394,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000227195	chromatin interactions
ENSG00000269543	chromatin interactions
ENSG00000197599	chromatin interactions
ENSG00000110321	chromatin interactions

Extended variants
information (count: 4966 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:4966 , 50 per page) page: 1 2 3 4 5 6 7 ... 100

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116802658	chr8:46915402-46915403	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs373326283	chr8:46915410-46915411	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs543906408	chr8:46915436-46915437	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs185064801	chr8:46915454-46915455	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs577008501	chr8:46915457-46915458	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs533503910	chr8:46915463-46915464	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs559713172	chr8:46915468-46915469	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs189913461	chr8:46915469-46915470	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs75976725	chr8:46915494-46915495	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs561678766	chr8:46915512-46915513	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs182081414	chr8:46915536-46915537	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs550700515	chr8:46915560-46915561	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs570441254	chr8:46915561-46915562	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs186845698	chr8:46915568-46915569	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs544832247	chr8:46915569-46915570	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs146855119	chr8:46915589-46915590	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs143651028	chr8:46917427-46917428	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs529259286	chr8:46917447-46917448	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs143988007	chr8:46917454-46917455	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs538040190	chr8:46917490-46917491	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs574347625	chr8:46917502-46917503	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs148640159	chr8:46917527-46917528	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs571186221	chr8:46917572-46917573	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs533809475	chr8:46917588-46917589	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs553368510	chr8:46917595-46917596	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs141198081	chr8:46917645-46917646	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs559728857	chr8:46917667-46917668	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs150730525	chr8:46917671-46917672	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs188408399	chr8:46917719-46917720	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs191237939	chr8:46917763-46917764	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs367603547	chr8:46917772-46917773	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs544779563	chr8:46917775-46917776	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs139068757	chr8:46917776-46917777	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs528769733	chr8:46917792-46917793	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs143932621	chr8:46917811-46917812	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs540892112	chr8:46917812-46917813	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs560492375	chr8:46917817-46917818	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs529256539	chr8:46917864-46917865	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs549257295	chr8:46917930-46917931	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs182836996	chr8:46917935-46917936	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs146883769	chr8:46917945-46917946	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs552148061	chr8:46917975-46917976	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs551574559	chr8:46917978-46917979	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs186747189	chr8:46917982-46917983	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs533844869	chr8:46918007-46918008	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs553605367	chr8:46918010-46918011	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs566972219	chr8:46918012-46918013	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs531140285	chr8:46918015-46918016	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs371572414	chr8:46918024-46918025	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs139745000	chr8:46918047-46918048	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Oral cancer	21386901	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	20607354	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	20409316	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:167 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:46915400-46915600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr8:46917400-46919600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:46917800-46919200	ZNF genes & repeats	Liver	Liver
4	chr8:46918000-46918400	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr8:46920400-46921400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr8:46921800-46925200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr8:46922000-46925400	ZNF genes & repeats	Adipose Nuclei	Adipose
8	chr8:46922400-46925800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:46923200-46926000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:46925200-46925400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:46927200-46939000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:46927400-46930000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:46929000-46929800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:46930400-46931200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:46930400-46932600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:46930800-46931200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr8:46932800-46941000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
18	chr8:46933200-46936200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr8:46933400-46936200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:46933400-46936400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
21	chr8:46933800-46934000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:46934600-46938400	ZNF genes & repeats	Fetal Stomach	stomach
23	chr8:46937000-46937200	ZNF genes & repeats	Brain Germinal Matrix	brain
24	chr8:46938200-46938800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr8:46938800-46941400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr8:46940400-46941400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:46940600-46941800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr8:46940800-46941400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:46941000-46941200	Enhancers	Osteobl	bone
30	chr8:46941000-46941600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
31	chr8:46941000-46941600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:46941200-46941600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
33	chr8:46941200-46941600	Flanking Active TSS	Osteobl	bone
34	chr8:46941400-46941600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:46943600-46944000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:46946200-46949000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:46947000-46951000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
38	chr8:46947200-46951000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
39	chr8:46947400-46948000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr8:46947400-46948400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:46947600-46947800	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
42	chr8:46947600-46948000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr8:46947600-46948000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr8:46947600-46948000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:46947600-46948000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr8:46947600-46948000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
47	chr8:46947600-46948000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr8:46947600-46948000	ZNF genes & repeats	Primary T cells from cord blood	blood
49	chr8:46947600-46948000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
50	chr8:46947600-46948000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood

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