Variant report

Variant	nsv611224
Chromosome Location	chr8:46840092-46902917
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:50731452..50731974-chr8:46856234..46856754,2	MCF-7	breast:
2	chr8:46850620..46851121-chr9:66823013..66823520,2	MCF-7	breast:
3	chr5:49521747..49523250-chr8:46849640..46851140,2	MCF-7	breast:
4	chr7:61552820..61553340-chr8:46850618..46851139,4	MCF-7	breast:
5	chr10:106011870..106012370-chr8:46850618..46851121,2	MCF-7	breast:
6	chr8:46850638..46851140-chr8:47405865..47406365,2	MCF-7	breast:
7	chr19:27961286..27961807-chr8:46850621..46851139,2	MCF-7	breast:
8	chr11:48811378..48811898-chr8:46850618..46851141,2	MCF-7	breast:

No data

Extended variants
information (count: 6582 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:6582 , 50 per page) page: 1 2 3 4 5 6 7 ... 132

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4601321	chr8:46840092-46840093	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs4332148	chr8:46840110-46840111	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs4332147	chr8:46840111-46840112	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs183279705	chr8:46840112-46840113	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs75945409	chr8:46840125-46840126	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs546612134	chr8:46840166-46840167	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs376064770	chr8:46840173-46840174	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs9721330	chr8:46840186-46840187	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs9772277	chr8:46840190-46840191	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs9720614	chr8:46840206-46840207	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs76871677	chr8:46840209-46840210	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs75156270	chr8:46840212-46840213	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs76839237	chr8:46840218-46840219	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs28776617	chr8:46840232-46840233	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs369066064	chr8:46840237-46840238	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs371707493	chr8:46840238-46840239	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs199557466	chr8:46840239-46840240	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs9772680	chr8:46840243-46840244	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs75717273	chr8:46840246-46840247	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs74755356	chr8:46840250-46840251	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs76728721	chr8:46840255-46840256	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs200597413	chr8:46840256-46840257	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs201568027	chr8:46840264-46840265	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs4338114	chr8:46840268-46840269	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs74941205	chr8:46840270-46840271	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs80015448	chr8:46840276-46840277	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs78401501	chr8:46840278-46840279	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs76107621	chr8:46840279-46840280	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs79454416	chr8:46840283-46840284	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs9720205	chr8:46840284-46840285	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs77932750	chr8:46840287-46840288	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs78637461	chr8:46840288-46840289	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs146925416	chr8:46840289-46840290	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs80216497	chr8:46840290-46840291	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs75626570	chr8:46840295-46840296	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs79928480	chr8:46840301-46840302	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs74705673	chr8:46840306-46840307	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs28776339	chr8:46840314-46840315	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs373900413	chr8:46840332-46840333	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs28853592	chr8:46840338-46840339	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs376122354	chr8:46840340-46840341	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs28888972	chr8:46840349-46840350	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs4590450	chr8:46840356-46840357	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs9720667	chr8:46840362-46840363	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs370460902	chr8:46840366-46840367	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs9801824	chr8:46840375-46840376	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs373354802	chr8:46840386-46840387	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs28834404	chr8:46840392-46840393	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs377506568	chr8:46840396-46840397	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs10087513	chr8:46840402-46840403	Weak transcription 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:1405 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:46839400-46841800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:46839400-46841800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:46839400-46841800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:46839400-46841800	ZNF genes & repeats	Liver	Liver
5	chr8:46839400-46841800	ZNF genes & repeats	Fetal Brain Male	brain
6	chr8:46839400-46841800	ZNF genes & repeats	Fetal Kidney	kidney
7	chr8:46839400-46841800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
8	chr8:46839400-46842200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
9	chr8:46839400-46842200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr8:46839400-46842400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
11	chr8:46839600-46840200	ZNF genes & repeats	HepG2	liver
12	chr8:46839600-46841800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
13	chr8:46839600-46841800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
14	chr8:46839600-46841800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
15	chr8:46839600-46841800	ZNF genes & repeats	Colonic Mucosa	Colon
16	chr8:46839800-46840600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr8:46839800-46841000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr8:46839800-46841200	Weak transcription	NH-A	brain
19	chr8:46839800-46841600	Weak transcription	K562	blood
20	chr8:46840000-46840800	Weak transcription	Brain Substantia Nigra	brain
21	chr8:46840000-46840800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr8:46840000-46840800	Weak transcription	Fetal Lung	lung
23	chr8:46840200-46840800	Weak transcription	Adipose Nuclei	Adipose
24	chr8:46840400-46842200	ZNF genes & repeats	Primary B cells from cord blood	blood
25	chr8:46840600-46841800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
26	chr8:46840600-46842000	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
27	chr8:46840800-46841800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
28	chr8:46840800-46841800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
29	chr8:46840800-46841800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:46840800-46841800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
31	chr8:46840800-46841800	ZNF genes & repeats	Adipose Nuclei	Adipose
32	chr8:46840800-46841800	ZNF genes & repeats	Brain Hippocampus Middle	brain
33	chr8:46840800-46841800	ZNF genes & repeats	Brain Substantia Nigra	brain
34	chr8:46840800-46841800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
35	chr8:46840800-46841800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
36	chr8:46840800-46841800	ZNF genes & repeats	Fetal Lung	lung
37	chr8:46840800-46841800	ZNF genes & repeats	Right Ventricle	heart
38	chr8:46840800-46841800	ZNF genes & repeats	HepG2	liver
39	chr8:46840800-46842000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
40	chr8:46841000-46841800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:46841000-46841800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:46841000-46841800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr8:46841000-46841800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
44	chr8:46841000-46841800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:46841000-46841800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
46	chr8:46841000-46841800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
47	chr8:46841000-46841800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:46841000-46841800	ZNF genes & repeats	Brain Angular Gyrus	brain
49	chr8:46841000-46841800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
50	chr8:46841000-46841800	ZNF genes & repeats	Colon Smooth Muscle	Colon

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