Variant report

Variant	nsv603241
Chromosome Location	chr6:58567162-58775043
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:36661511..36663112-chr6:58773928..58776889,2	K562	blood:
2	chr6:58772384..58775379-chr6:58777406..58779060,3	K562	blood:
3	chr12:38032912..38033432-chr6:58774035..58775015,2	MCF-7	breast:
4	chr14:19022553..19024053-chr6:58774785..58777168,2	MCF-7	breast:
5	chr17:57920187..57922882-chr6:58774753..58776582,2	MCF-7	breast:
6	chr6:58773141..58775009-chr6:58776566..58778429,2	MCF-7	breast:
7	chr6:58772143..58775007-chr6:58776713..58778919,5	K562	blood:
8	chr10:74031778..74033740-chr6:58774757..58776794,2	MCF-7	breast:
9	chr20:56089136..56089874-chr6:58774030..58774536,2	MCF-7	breast:
10	chr19:27738271..27739820-chr6:58772163..58774918,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000101407	chromatin interactions
ENSG00000101413	chromatin interactions
ENSG00000168209	chromatin interactions

Extended variants
information (count: 1842 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1842 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549695531	chr6:58591012-58591013	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs373144251	chr6:58591034-58591035	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs567839184	chr6:58591056-58591057	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs375742000	chr6:58591063-58591064	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs537234032	chr6:58591074-58591075	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs550222321	chr6:58591080-58591081	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs72870557	chr6:58591086-58591087	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
8	rs370930241	chr6:58591089-58591090	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs186719928	chr6:58591103-58591104	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs374553821	chr6:58591114-58591115	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs573040469	chr6:58591118-58591119	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs149017061	chr6:58591126-58591127	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs73756130	chr6:58591155-58591156	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs572249057	chr6:58591158-58591159	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs71568741	chr6:58591184-58591185	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs573868111	chr6:58591210-58591211	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs9500346	chr6:58591250-58591251	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs562147853	chr6:58591257-58591258	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs577177369	chr6:58591270-58591271	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs192077485	chr6:58591277-58591278	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs559984638	chr6:58591315-58591316	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs182596778	chr6:58591359-58591360	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs9377821	chr6:58591398-58591399	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs190889060	chr6:58607003-58607004	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs552320831	chr6:58607008-58607009	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs570832152	chr6:58607009-58607010	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs558868457	chr6:58607027-58607028	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs528715226	chr6:58607045-58607046	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs7766102	chr6:58607056-58607057	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs572393076	chr6:58607057-58607058	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs184000070	chr6:58607070-58607071	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs568433344	chr6:58607086-58607087	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs532010886	chr6:58607095-58607096	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs148665480	chr6:58607098-58607099	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs188842391	chr6:58607102-58607103	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs143441629	chr6:58607125-58607126	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs193053826	chr6:58607208-58607209	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs541284086	chr6:58607231-58607232	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs377479841	chr6:58607232-58607233	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs574662183	chr6:58607244-58607245	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs558736532	chr6:58607246-58607247	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs577217847	chr6:58607269-58607270	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs186868914	chr6:58607270-58607271	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs552737539	chr6:58607290-58607291	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs191654568	chr6:58607307-58607308	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs2693074	chr6:58607308-58607309	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs552016973	chr6:58607313-58607314	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs574969381	chr6:58607322-58607323	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs113931506	chr6:58607334-58607335	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs546171626	chr6:58607362-58607363	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:213 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:58591000-58591400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:58607000-58607400	Active TSS	Stomach Mucosa	stomach
3	chr6:58614800-58617800	Enhancers	NHEK	skin
4	chr6:58668600-58669200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:58684400-58685400	Enhancers	NHEK	skin
6	chr6:58748800-58750400	ZNF genes & repeats	Liver	Liver
7	chr6:58762800-58763200	ZNF genes & repeats	Liver	Liver
8	chr6:58764600-58765800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:58765200-58769400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:58768000-58771000	ZNF genes & repeats	Liver	Liver
11	chr6:58769400-58769800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:58769600-58770000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:58769800-58773600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:58770000-58773400	Weak transcription	Aorta	Aorta
15	chr6:58770600-58770800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:58770800-58773400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:58771000-58773400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr6:58771000-58773400	Weak transcription	Liver	Liver
19	chr6:58771200-58773400	Weak transcription	Adipose Nuclei	Adipose
20	chr6:58772600-58773200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr6:58773400-58773600	Active TSS	Aorta	Aorta
22	chr6:58773400-58773600	Active TSS	Ovary	ovary
23	chr6:58773400-58773600	Active TSS	Psoas Muscle	Psoas
24	chr6:58773400-58774000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
25	chr6:58773400-58774000	Flanking Bivalent TSS/Enh	Hela-S3	cervix
26	chr6:58773400-58774800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr6:58773400-58774800	ZNF genes & repeats	Brain Hippocampus Middle	brain
28	chr6:58773400-58774800	ZNF genes & repeats	Colon Smooth Muscle	Colon
29	chr6:58773400-58774800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
30	chr6:58773400-58774800	ZNF genes & repeats	Fetal Lung	lung
31	chr6:58773400-58774800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
32	chr6:58773400-58774800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
33	chr6:58773400-58774800	ZNF genes & repeats	Stomach Smooth Muscle	stomach
34	chr6:58773400-58774800	ZNF genes & repeats	GM12878-XiMat	blood
35	chr6:58773400-58774800	ZNF genes & repeats	HUVEC	blood vessel
36	chr6:58773400-58775000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
37	chr6:58773400-58775000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:58773400-58775000	ZNF genes & repeats	Brain Anterior Caudate	brain
39	chr6:58773400-58775000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
40	chr6:58773400-58775000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
41	chr6:58773400-58775000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
42	chr6:58773400-58775000	ZNF genes & repeats	Dnd41	blood
43	chr6:58773400-58775200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr6:58773400-58775200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr6:58773400-58775200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
46	chr6:58773400-58775400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
47	chr6:58773400-58775400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
48	chr6:58773400-58775600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
49	chr6:58773400-58775600	ZNF genes & repeats	Liver	Liver
50	chr6:58773400-58775800	ZNF genes & repeats	HMEC	breast

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