Variant report

Variant	nsv603243
Chromosome Location	chr6:58754939-58779628
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:146)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:146 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr6:58776797..58778439-chr9:136323811..136326318,2	MCF-7	breast:
2	chr6:30581365..30583375-chr6:58776545..58779152,2	MCF-7	breast:
3	chr6:58772384..58775379-chr6:58777406..58779060,3	K562	blood:
4	chr6:58777671..58778345-chr6:61909292..61909815,4	MCF-7	breast:
5	chr6:58773141..58775009-chr6:58776566..58778429,2	MCF-7	breast:
6	chr6:27776232..27779951-chr6:58776955..58780402,3	MCF-7	breast:
7	chr20:52424572..52427398-chr6:58777006..58778744,2	MCF-7	breast:
8	chr17:57697051..57699517-chr6:58775454..58778452,2	MCF-7	breast:
9	chr20:52815826..52816411-chr6:58777180..58778164,2	MCF-7	breast:
10	chr11:62597650..62599373-chr6:58779077..58780591,2	MCF-7	breast:
11	chr17:56736044..56736561-chr6:58778407..58779097,2	MCF-7	breast:
12	chr6:58776637..58777632-chr8:18871298..18871912,2	HCT-116	colon:
13	chr3:90451069..90451589-chr6:58776919..58777844,3	MCF-7	breast:
14	chr20:19348440..19350405-chr6:58776310..58778887,2	MCF-7	breast:
15	chr13:20943879..20946266-chr6:58777671..58779217,2	MCF-7	breast:
16	chr17:57920709..57924714-chr6:58775095..58779071,5	MCF-7	breast:
17	chr6:58776657..58777247-chrX:136737324..136737914,2	MCF-7	breast:
18	chr4:44422694..44424195-chr6:58776128..58778515,2	MCF-7	breast:
19	chr3:90450072..90451589-chr6:58776092..58777719,4	MCF-7	breast:
20	chr12:117585721..117587663-chr6:58775712..58777632,2	MCF-7	breast:
21	chr14:19023553..19024073-chr6:58778553..58779079,2	MCF-7	breast:
22	chr22:21356184..21359058-chr6:58776120..58778924,2	MCF-7	breast:
23	chr6:58772143..58775007-chr6:58776713..58778919,5	K562	blood:
24	chr11:58678524..58679504-chr6:58777166..58777745,2	MCF-7	breast:
25	chr6:58776890..58777662-chr7:5569763..5570677,2	Hela-S3	cervix:
26	chr6:58772384..58775379-chr6:58777406..58779060,3	K562	blood:
27	chr20:60960325..60962671-chr6:58777619..58780127,2	MCF-7	breast:
28	chr2:219259923..219262856-chr6:58776591..58778942,2	MCF-7	breast:
29	chr17:57930610..57932922-chr6:58777438..58780644,3	MCF-7	breast:
30	chr17:59628009..59628683-chr6:58777089..58777729,2	MCF-7	breast:
31	chr17:57914586..57918340-chr6:58776843..58780440,4	MCF-7	breast:
32	chr11:66445363..66446008-chr6:58776703..58777356,2	MCF-7	breast:
33	chr12:80435495..80437852-chr6:58775102..58777367,2	MCF-7	breast:
34	chr12:38031932..38033432-chr6:58775709..58777615,2	MCF-7	breast:
35	chr20:36661511..36663112-chr6:58773928..58776889,2	K562	blood:
36	chr1:110090644..110091238-chr6:58776881..58777871,2	MCF-7	breast:
37	chr17:57928094..57930742-chr6:58776120..58778676,4	MCF-7	breast:
38	chr21:9826269..9827015-chr6:58776389..58777037,2	MCF-7	breast:
39	chr20:62493089..62495109-chr6:58777340..58778920,2	MCF-7	breast:
40	chr12:7070831..7073502-chr6:58777307..58779204,2	MCF-7	breast:
41	chr3:195577616..195578367-chr6:58777226..58778078,2	MCF-7	breast:
42	chr18:73688396..73689210-chr6:58777841..58778684,2	MCF-7	breast:
43	chr6:27805995..27806602-chr6:58778107..58778767,2	MCF-7	breast:
44	chr17:62622662..62623234-chr6:58778443..58779436,2	MCF-7	breast:
45	chr12:38031911..38033432-chr6:58776341..58779018,2	MCF-7	breast:
46	chr6:58777707..58778511-chr6:61909313..61909813,2	MCF-7	breast:
47	chr14:69258719..69262658-chr6:58778237..58780699,3	MCF-7	breast:
48	chr3:90450069..90451571-chr6:58776178..58778913,3	MCF-7	breast:
49	chr1:181394037..181394570-chr6:58777372..58778132,2	MCF-7	breast:
50	chr16:85495639..85498852-chr6:58775657..58778770,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000171858	chromatin interactions
ENSG00000246263	chromatin interactions
ENSG00000122565	chromatin interactions
ENSG00000185158	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000026103	chromatin interactions
ENSG00000140553	chromatin interactions
ENSG00000230513	chromatin interactions
ENSG00000203813	chromatin interactions
ENSG00000268858	chromatin interactions
ENSG00000168209	chromatin interactions
ENSG00000101040	chromatin interactions
ENSG00000122566	chromatin interactions
ENSG00000136997	chromatin interactions
ENSG00000199004	chromatin interactions
ENSG00000101413	chromatin interactions
ENSG00000204390	chromatin interactions
ENSG00000101407	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000111321	chromatin interactions
ENSG00000233822	chromatin interactions
ENSG00000141367	chromatin interactions
ENSG00000255326	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000103528	chromatin interactions
ENSG00000204389	chromatin interactions
ENSG00000212017	chromatin interactions
ENSG00000185650	chromatin interactions
ENSG00000183665	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000173914	chromatin interactions
ENSG00000089351	chromatin interactions
ENSG00000124151	chromatin interactions
ENSG00000009830	chromatin interactions
ENSG00000159202	chromatin interactions
ENSG00000048392	chromatin interactions
ENSG00000248278	chromatin interactions
ENSG00000187013	chromatin interactions
ENSG00000206754	chromatin interactions
ENSG00000160973	chromatin interactions
ENSG00000065135	chromatin interactions
ENSG00000184348	chromatin interactions
ENSG00000204272	chromatin interactions
ENSG00000237080	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000132470	chromatin interactions
ENSG00000104524	chromatin interactions
ENSG00000184436	chromatin interactions
ENSG00000112306	chromatin interactions
ENSG00000153487	chromatin interactions
ENSG00000226137	chromatin interactions
ENSG00000126749	chromatin interactions
ENSG00000163635	chromatin interactions
ENSG00000207708	chromatin interactions
ENSG00000134905	chromatin interactions
ENSG00000207713	chromatin interactions
ENSG00000257084	chromatin interactions
ENSG00000160325	chromatin interactions
ENSG00000175866	chromatin interactions
ENSG00000075624	chromatin interactions

Extended variants
information (count: 4006 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:4006 , 50 per page) page: 1 2 3 4 5 6 7 ... 81

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539370006	chr6:58762803-58762804	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs7768762	chr6:58762807-58762808	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs572705288	chr6:58762808-58762809	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs187746840	chr6:58762822-58762823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs200037082	chr6:58762824-58762825	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs533602483	chr6:58762835-58762836	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs201046169	chr6:58762845-58762846	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs555035836	chr6:58762885-58762886	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs2880516	chr6:58762891-58762892	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs555413466	chr6:58762896-58762897	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs554900292	chr6:58762944-58762945	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs62411500	chr6:58762952-58762953	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs62411501	chr6:58762964-58762965	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs62411502	chr6:58762973-58762974	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs62411503	chr6:58762979-58762980	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs544796252	chr6:58762989-58762990	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs62411505	chr6:58762992-58762993	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs193213571	chr6:58762994-58762995	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs183891750	chr6:58762998-58762999	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs147774668	chr6:58762999-58763000	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs545379312	chr6:58763012-58763013	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs62411506	chr6:58763020-58763021	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs62411507	chr6:58763024-58763025	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs62411508	chr6:58763032-58763033	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs62411509	chr6:58763034-58763035	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs371410322	chr6:58763035-58763036	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs375650859	chr6:58763042-58763043	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs62411510	chr6:58763043-58763044	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs188521959	chr6:58763051-58763052	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs62411511	chr6:58763053-58763054	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs575684209	chr6:58763054-58763055	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs62411512	chr6:58763055-58763056	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs113764116	chr6:58763059-58763060	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs62411513	chr6:58763070-58763071	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs62411514	chr6:58763077-58763078	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs62411515	chr6:58763084-58763085	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs62411516	chr6:58763087-58763088	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs62411517	chr6:58763098-58763099	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs62411518	chr6:58763100-58763101	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs371442399	chr6:58763101-58763102	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs386701807	chr6:58763104-58763105	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs192093394	chr6:58763105-58763106	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs184636001	chr6:58763109-58763110	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs62411520	chr6:58763110-58763111	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs62411521	chr6:58763116-58763117	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs62411522	chr6:58763124-58763125	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs542739188	chr6:58763131-58763132	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs550117272	chr6:58763132-58763133	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs62411523	chr6:58763140-58763141	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs62411524	chr6:58763145-58763146	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
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
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:399 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:58762800-58763200	ZNF genes & repeats	Liver	Liver
2	chr6:58764600-58765800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:58765200-58769400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:58768000-58771000	ZNF genes & repeats	Liver	Liver
5	chr6:58769400-58769800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:58769600-58770000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:58769800-58773600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:58770000-58773400	Weak transcription	Aorta	Aorta
9	chr6:58770600-58770800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:58770800-58773400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:58771000-58773400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr6:58771000-58773400	Weak transcription	Liver	Liver
13	chr6:58771200-58773400	Weak transcription	Adipose Nuclei	Adipose
14	chr6:58772600-58773200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr6:58773400-58773600	Active TSS	Aorta	Aorta
16	chr6:58773400-58773600	Active TSS	Ovary	ovary
17	chr6:58773400-58773600	Active TSS	Psoas Muscle	Psoas
18	chr6:58773400-58774000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
19	chr6:58773400-58774000	Flanking Bivalent TSS/Enh	Hela-S3	cervix
20	chr6:58773400-58774800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:58773400-58774800	ZNF genes & repeats	Brain Hippocampus Middle	brain
22	chr6:58773400-58774800	ZNF genes & repeats	Colon Smooth Muscle	Colon
23	chr6:58773400-58774800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
24	chr6:58773400-58774800	ZNF genes & repeats	Fetal Lung	lung
25	chr6:58773400-58774800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
26	chr6:58773400-58774800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
27	chr6:58773400-58774800	ZNF genes & repeats	Stomach Smooth Muscle	stomach
28	chr6:58773400-58774800	ZNF genes & repeats	GM12878-XiMat	blood
29	chr6:58773400-58774800	ZNF genes & repeats	HUVEC	blood vessel
30	chr6:58773400-58775000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
31	chr6:58773400-58775000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:58773400-58775000	ZNF genes & repeats	Brain Anterior Caudate	brain
33	chr6:58773400-58775000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
34	chr6:58773400-58775000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
35	chr6:58773400-58775000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
36	chr6:58773400-58775000	ZNF genes & repeats	Dnd41	blood
37	chr6:58773400-58775200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:58773400-58775200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:58773400-58775200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
40	chr6:58773400-58775400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
41	chr6:58773400-58775400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
42	chr6:58773400-58775600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
43	chr6:58773400-58775600	ZNF genes & repeats	Liver	Liver
44	chr6:58773400-58775800	ZNF genes & repeats	HMEC	breast
45	chr6:58773400-58776000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:58773400-58776000	ZNF genes & repeats	NH-A	brain
47	chr6:58773400-58776200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr6:58773400-58776200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
49	chr6:58773400-58776400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr6:58773400-58776400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum

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