Variant report

Variant	nsv1022146
Chromosome Location	chr8:46923272-47087379
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:23254197..23254711-chr8:46940755..46941394,2	K562	blood:
2	chr8:47059851..47061946-chr8:47064644..47066356,2	MCF-7	breast:
3	chr8:46940678..46941746-chr8:47130003..47131748,8	MCF-7	breast:
4	chr22:28194390..28194890-chr8:46940890..46941394,2	MCF-7	breast:
5	chr16:1494211..1494730-chr8:46940868..46941388,2	MCF-7	breast:
6	chr19:23254194..23254711-chr8:46940869..46941389,2	MCF-7	breast:
7	chr1:112439856..112440376-chr8:46940777..46941392,3	MCF-7	breast:
8	chr20:26190442..26190988-chr8:46940868..46941390,2	MCF-7	breast:
9	chr22:25265936..25266456-chr8:46940874..46941393,2	MCF-7	breast:
10	chr8:46940536..46941325-chr8:47868294..47869211,2	K562	blood:
11	chr8:46948914..46951388-chr8:46959571..46961840,2	K562	blood:
12	chr4:107699957..107700477-chr8:46940755..46941372,3	MCF-7	breast:
13	chr2:133016687..133017416-chr8:46947342..46948320,4	MCF-7	breast:
14	chr19:21665376..21665988-chr8:46940890..46941394,3	MCF-7	breast:
15	chr8:46948914..46951388-chr8:46959571..46961840,2	K562	blood:
16	chr19:21665377..21666008-chr8:46940755..46941391,3	MCF-7	breast:
17	chr11:10829784..10830763-chr8:46940754..46941373,2	MCF-7	breast:
18	chr1:156185756..156186427-chr8:46940757..46941368,2	K562	blood:
19	chr8:46940855..46941726-chr8:47130252..47130754,2	K562	blood:
20	chr3:19097583..19098083-chr8:46940757..46941373,3	MCF-7	breast:
21	chr10:42530427..42532590-chr8:46977725..46979226,2	MCF-7	breast:
22	chr8:47059851..47061946-chr8:47064644..47066356,2	MCF-7	breast:

No data

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

Extended variants
information (count: 8070 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:8070 , 50 per page) page: 1 2 3 4 5 6 7 ... 162

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545058954	chr8:46923277-46923278	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs564739100	chr8:46923283-46923284	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs117123086	chr8:46923289-46923290	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs541353858	chr8:46923330-46923331	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs187332928	chr8:46923345-46923346	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs529723717	chr8:46923348-46923349	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs140926088	chr8:46923355-46923356	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs190538547	chr8:46923359-46923360	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs574904808	chr8:46923360-46923361	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs532256527	chr8:46923371-46923372	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs552256520	chr8:46923388-46923389	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs374773625	chr8:46923404-46923405	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs540796565	chr8:46923408-46923409	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs117449931	chr8:46923445-46923446	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs367828183	chr8:46923446-46923447	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs371397798	chr8:46923473-46923474	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs554484797	chr8:46923494-46923495	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs567885174	chr8:46923495-46923496	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs376565084	chr8:46923507-46923508	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs8175355	chr8:46923538-46923539	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs566699430	chr8:46923542-46923543	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs556146420	chr8:46923545-46923546	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs181507709	chr8:46923559-46923560	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs149762128	chr8:46923567-46923568	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs145650496	chr8:46923595-46923596	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs572237584	chr8:46923602-46923603	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs13249362	chr8:46923645-46923646	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs561111281	chr8:46923646-46923647	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs369533875	chr8:46923649-46923650	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs148891588	chr8:46923650-46923651	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs370905885	chr8:46923691-46923692	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs186147094	chr8:46923709-46923710	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs563276419	chr8:46923719-46923720	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs532142955	chr8:46923738-46923739	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs190066669	chr8:46923742-46923743	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs563120146	chr8:46923772-46923773	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs183224223	chr8:46923783-46923784	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs186057663	chr8:46923797-46923798	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs567807657	chr8:46923798-46923799	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs190929072	chr8:46923800-46923801	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs116681589	chr8:46923803-46923804	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs368579528	chr8:46923814-46923815	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs183971574	chr8:46923815-46923816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs538629963	chr8:46923822-46923823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs188666190	chr8:46923837-46923838	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs530536483	chr8:46923863-46923864	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs12676202	chr8:46923870-46923871	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs533452040	chr8:46923900-46923901	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs572471390	chr8:46923903-46923904	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs145465759	chr8:46923956-46923957	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:217 , 50 per page) page: 1 2 3 4 5

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

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