Variant report

Variant	nsv1025649
Chromosome Location	chr6:58653250-58774716
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:58773141..58775009-chr6:58776566..58778429,2	MCF-7	breast:
2	chr20:56089136..56089874-chr6:58774030..58774536,2	MCF-7	breast:
3	chr6:58772384..58775379-chr6:58777406..58779060,3	K562	blood:
4	chr20:36661511..36663112-chr6:58773928..58776889,2	K562	blood:
5	chr6:58772143..58775007-chr6:58776713..58778919,5	K562	blood:
6	chr19:27738271..27739820-chr6:58772163..58774918,2	MCF-7	breast:
7	chr12:38032912..38033432-chr6:58774035..58775015,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000101413	chromatin interactions
ENSG00000101407	chromatin interactions

Extended variants
information (count: 1583 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1583 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202096942	chr6:58668603-58668604	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs549583725	chr6:58668615-58668616	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs145450275	chr6:58668616-58668617	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs532305507	chr6:58668634-58668635	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs547265613	chr6:58668678-58668679	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs201968751	chr6:58668692-58668693	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs565715596	chr6:58668704-58668705	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs533982994	chr6:58668710-58668711	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs144978141	chr6:58668711-58668712	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs148667836	chr6:58668758-58668759	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs553648322	chr6:58668759-58668760	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs537115978	chr6:58668819-58668820	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs12196943	chr6:58668835-58668836	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs185582684	chr6:58668839-58668840	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs536327755	chr6:58668860-58668861	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs111967371	chr6:58668866-58668867	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs553389886	chr6:58668908-58668909	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs574819671	chr6:58668951-58668952	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs541870920	chr6:58668962-58668963	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs140076213	chr6:58668966-58668967	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs376791840	chr6:58668967-58668968	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs545875092	chr6:58668987-58668988	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs188625629	chr6:58668988-58668989	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs181522867	chr6:58668989-58668990	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs369953481	chr6:58669012-58669013	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs146452669	chr6:58669022-58669023	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs373524992	chr6:58669023-58669024	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs544947641	chr6:58669029-58669030	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs529952983	chr6:58669031-58669032	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs185949494	chr6:58669045-58669046	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs569600265	chr6:58669078-58669079	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs191198805	chr6:58669080-58669081	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs552281190	chr6:58669105-58669106	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs571106713	chr6:58669106-58669107	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs201552929	chr6:58669107-58669108	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs558421932	chr6:58669120-58669121	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs553494512	chr6:58669135-58669136	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs111297745	chr6:58669149-58669150	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs369035461	chr6:58669173-58669174	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs111264113	chr6:58669181-58669182	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs377747072	chr6:58669182-58669183	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs78063285	chr6:58669183-58669184	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs536109382	chr6:58669188-58669189	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs181951344	chr6:58669190-58669191	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs575211116	chr6:58669199-58669200	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs116111101	chr6:58684404-58684405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531622517	chr6:58684441-58684442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs111587221	chr6:58684442-58684443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533157875	chr6:58684510-58684511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs187234526	chr6:58684515-58684516	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Neuroblastoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD

Chromatin state (count:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:58668600-58669200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:58684400-58685400	Enhancers	NHEK	skin
3	chr6:58748800-58750400	ZNF genes & repeats	Liver	Liver
4	chr6:58762800-58763200	ZNF genes & repeats	Liver	Liver
5	chr6:58764600-58765800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:58765200-58769400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:58768000-58771000	ZNF genes & repeats	Liver	Liver
8	chr6:58769400-58769800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:58769600-58770000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:58769800-58773600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:58770000-58773400	Weak transcription	Aorta	Aorta
12	chr6:58770600-58770800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:58770800-58773400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:58771000-58773400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr6:58771000-58773400	Weak transcription	Liver	Liver
16	chr6:58771200-58773400	Weak transcription	Adipose Nuclei	Adipose
17	chr6:58772600-58773200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr6:58773400-58773600	Active TSS	Aorta	Aorta
19	chr6:58773400-58773600	Active TSS	Ovary	ovary
20	chr6:58773400-58773600	Active TSS	Psoas Muscle	Psoas
21	chr6:58773400-58774000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
22	chr6:58773400-58774000	Flanking Bivalent TSS/Enh	Hela-S3	cervix
23	chr6:58773400-58774800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:58773400-58774800	ZNF genes & repeats	Brain Hippocampus Middle	brain
25	chr6:58773400-58774800	ZNF genes & repeats	Colon Smooth Muscle	Colon
26	chr6:58773400-58774800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
27	chr6:58773400-58774800	ZNF genes & repeats	Fetal Lung	lung
28	chr6:58773400-58774800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
29	chr6:58773400-58774800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
30	chr6:58773400-58774800	ZNF genes & repeats	Stomach Smooth Muscle	stomach
31	chr6:58773400-58774800	ZNF genes & repeats	GM12878-XiMat	blood
32	chr6:58773400-58774800	ZNF genes & repeats	HUVEC	blood vessel
33	chr6:58773400-58775000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
34	chr6:58773400-58775000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:58773400-58775000	ZNF genes & repeats	Brain Anterior Caudate	brain
36	chr6:58773400-58775000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
37	chr6:58773400-58775000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
38	chr6:58773400-58775000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
39	chr6:58773400-58775000	ZNF genes & repeats	Dnd41	blood
40	chr6:58773400-58775200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr6:58773400-58775200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:58773400-58775200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
43	chr6:58773400-58775400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
44	chr6:58773400-58775400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
45	chr6:58773400-58775600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
46	chr6:58773400-58775600	ZNF genes & repeats	Liver	Liver
47	chr6:58773400-58775800	ZNF genes & repeats	HMEC	breast
48	chr6:58773400-58776000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr6:58773400-58776000	ZNF genes & repeats	NH-A	brain
50	chr6:58773400-58776200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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