Variant report

Variant	nsv1029184
Chromosome Location	chr8:46919261-46954695
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 2001 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:2001 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545678734	chr8:46919270-46919271	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs35889652	chr8:46919303-46919304	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs552181039	chr8:46919306-46919307	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs565651076	chr8:46919334-46919335	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs193110307	chr8:46919354-46919355	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs537608912	chr8:46919357-46919358	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs185101181	chr8:46919369-46919370	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs544404242	chr8:46919385-46919386	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs567895517	chr8:46919404-46919405	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs35248395	chr8:46919428-46919429	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs556848467	chr8:46919446-46919447	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs531101589	chr8:46919471-46919472	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs538915032	chr8:46919510-46919511	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs558540563	chr8:46919518-46919519	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs572071876	chr8:46919578-46919579	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs538375873	chr8:46920429-46920430	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs550607471	chr8:46920491-46920492	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs563546095	chr8:46920517-46920518	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs8188534	chr8:46920530-46920531	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs532567073	chr8:46920543-46920544	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs188067394	chr8:46920553-46920554	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs566018914	chr8:46920582-46920583	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs113922072	chr8:46920583-46920584	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs550443164	chr8:46920596-46920597	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs112142601	chr8:46920624-46920625	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs142970794	chr8:46920636-46920637	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs180745251	chr8:46920709-46920710	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs536982500	chr8:46920720-46920721	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs556865769	chr8:46920721-46920722	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs186021549	chr8:46920739-46920740	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs557423983	chr8:46920807-46920808	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs151102662	chr8:46920808-46920809	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs112441245	chr8:46920837-46920838	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs59338957	chr8:46920861-46920862	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs539626825	chr8:46920864-46920865	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs553330564	chr8:46920865-46920866	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs139859634	chr8:46920903-46920904	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs114350487	chr8:46920929-46920930	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs561533476	chr8:46920935-46920936	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs369977326	chr8:46920975-46920976	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs575132658	chr8:46920994-46920995	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs192121119	chr8:46920996-46920997	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs563831636	chr8:46921003-46921004	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs532604027	chr8:46921015-46921016	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs545967531	chr8:46921024-46921025	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs559494139	chr8:46921038-46921039	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs528798525	chr8:46921072-46921073	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs553439663	chr8:46921120-46921121	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs573242667	chr8:46921175-46921176	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs548823954	chr8:46921215-46921216	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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

Chromatin state (count:120 , 50 per page) page: 1 2 3

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

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