Variant report

Variant	nsv1034815
Chromosome Location	chr6:58669656-58774716
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000101407	chromatin interactions
ENSG00000101413	chromatin interactions

Extended variants
information (count: 1538 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1538 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116111101	chr6:58684404-58684405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531622517	chr6:58684441-58684442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs111587221	chr6:58684442-58684443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533157875	chr6:58684510-58684511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187234526	chr6:58684515-58684516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149039564	chr6:58684516-58684517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552820717	chr6:58684544-58684545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527552548	chr6:58684573-58684574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548594481	chr6:58684610-58684611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190823447	chr6:58684652-58684653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559725327	chr6:58684661-58684662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181961803	chr6:58684662-58684663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185838934	chr6:58684674-58684675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549844701	chr6:58684680-58684681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571206955	chr6:58684689-58684690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539243910	chr6:58684692-58684693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547983517	chr6:58684857-58684858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566405669	chr6:58684881-58684882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536930219	chr6:58684892-58684893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554706547	chr6:58684895-58684896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576384106	chr6:58684933-58684934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528693813	chr6:58684954-58684955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548759661	chr6:58684955-58684956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533295601	chr6:58685024-58685025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537002129	chr6:58685026-58685027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559020890	chr6:58685038-58685039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190543635	chr6:58685050-58685051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183086670	chr6:58685079-58685080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375284267	chr6:58685083-58685084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs77535860	chr6:58685089-58685090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572041234	chr6:58685125-58685126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568571070	chr6:58685128-58685129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542895670	chr6:58685133-58685134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188075892	chr6:58685134-58685135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531340588	chr6:58685172-58685173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537513709	chr6:58685185-58685186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549469604	chr6:58685220-58685221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565005664	chr6:58685284-58685285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532224067	chr6:58685345-58685346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548046363	chr6:58685385-58685386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs4317434	chr6:58685386-58685387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549500270	chr6:58748808-58748809	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs201840303	chr6:58748836-58748837	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs111538414	chr6:58748838-58748839	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs564939572	chr6:58748848-58748849	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs532681224	chr6:58748866-58748867	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs111234928	chr6:58748873-58748874	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs199618361	chr6:58748874-58748875	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs548087653	chr6:58748885-58748886	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs188290468	chr6:58748890-58748891	ZNF genes & repeats	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:178 , 50 per page) page: 1 2 3 4

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

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