Variant report

Variant	nsv5322
Chromosome Location	chr6:58403490-58430407
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:49)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:49 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:58418332-58418418	Gliobla	brain:	n/a	n/a
2	CTCF	chr6:58418343-58418400	A549	lung:	n/a	n/a
3	CTCF	chr6:58418289-58418467	MCF-7	breast:	n/a	n/a
4	CTCF	chr6:58418308-58418414	HepG2	liver:	n/a	n/a
5	CTCF	chr6:58418286-58418458	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr6:58418307-58418449	NHEK	skin:	n/a	n/a
7	CTCF	chr6:58418361-58418384	K562	blood:	n/a	n/a
8	CTCF	chr6:58407727-58407802	LNCaP	prostate:	n/a	n/a
9	CTCF	chr6:58418289-58418465	MCF-7	breast:	n/a	n/a
10	CTCF	chr6:58418362-58418395	GM19238	blood:	n/a	n/a
11	CTCF	chr6:58418308-58418378	Kidney_OC	kidney:	n/a	n/a
12	CTCF	chr6:58418274-58418493	MCF-7	breast:	n/a	n/a
13	CTCF	chr6:58418346-58418400	GM12878	blood:	n/a	n/a
14	CTCF	chr6:58418914-58418962	GM10266	blood:	n/a	n/a
15	CTCF	chr6:58418315-58418417	GM12891	blood:	n/a	n/a
16	CTCF	chr6:58418296-58418481	Medullo	brain:	n/a	n/a
17	CTCF	chr6:58418891-58419040	Medullo	brain:	n/a	n/a
18	CTCF	chr6:58415157-58415161	GM20000	blood:	n/a	n/a
19	CTCF	chr6:58407328-58407359	ProgFib	skin:	n/a	n/a
20	CTCF	chr6:58418277-58418477	MCF-7	breast:	n/a	n/a
21	CTCF	chr6:58418308-58418469	LNCaP	prostate:	n/a	n/a
22	CTCF	chr6:58418286-58418455	MCF-7	breast:	n/a	n/a
23	CTCF	chr6:58415110-58415127	GM20000	blood:	n/a	n/a
24	CTCF	chr6:58418339-58418424	GM10266	blood:	n/a	n/a
25	CTCF	chr6:58418311-58418488	LNCaP	prostate:	n/a	n/a
26	CTCF	chr6:58418332-58418412	Fibrobl	skin:	n/a	n/a
27	CTCF	chr6:58415647-58415708	Lung_OC	lung:	n/a	n/a
28	CTCF	chr6:58418344-58418427	Pancreas_OC	pancreas:	n/a	n/a
29	MYC	chr6:58407784-58407790	MCF-7	breast:	n/a	n/a
30	MYC	chr6:58407611-58407612	MCF-7	breast:	n/a	n/a
31	MYC	chr6:58407788-58407791	MCF-7	breast:	n/a	n/a
32	MYC	chr6:58407353-58407358	MCF-7	breast:	n/a	n/a
33	MYC	chr6:58407577-58407603	MCF-7	breast:	n/a	n/a
34	MYC	chr6:58407632-58407775	MCF-7	breast:	n/a	n/a
35	MYC	chr6:58407647-58407786	MCF-7	breast:	n/a	n/a
36	MYC	chr6:58407473-58407640	MCF-7	breast:	n/a	n/a
37	MYC	chr6:58407365-58407405	MCF-7	breast:	n/a	n/a
38	MYC	chr6:58407611-58407717	MCF-7	breast:	n/a	n/a
39	MYC	chr6:58407407-58407539	MCF-7	breast:	n/a	n/a
40	POLR2A	chr6:58407778-58407779	A549	lung:	n/a	n/a
41	POLR2A	chr6:58407601-58407638	MCF-7	breast:	n/a	n/a
42	POLR2A	chr6:58407599-58407787	Gliobla	brain:	n/a	n/a
43	POLR2A	chr6:58407368-58407875	MCF-7	breast:	n/a	n/a
44	POLR2A	chr6:58407648-58407746	A549	lung:	n/a	n/a
45	POLR2A	chr6:58419171-58419315	ProgFib	skin:	n/a	n/a
46	POLR2A	chr6:58407333-58407582	MCF-7	breast:	n/a	n/a
47	POLR2A	chr6:58407298-58407324	MCF-7	breast:	n/a	n/a
48	POLR2A	chr6:58407497-58407539	A549	lung:	n/a	n/a
49	POLR2A	chr6:58407527-58407594	Gliobla	brain:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000216687	TF binding region

Extended variants
information (count: 61 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558465698	chr6:58417401-58417402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1461469	chr6:58417432-58417433	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs559058792	chr6:58417446-58417447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1461468	chr6:58417568-58417569	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs139809105	chr6:58417571-58417572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575341779	chr6:58417572-58417573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375498407	chr6:58417626-58417627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537863792	chr6:58417641-58417642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375995653	chr6:58417646-58417647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1777988	chr6:58417681-58417682	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs528755532	chr6:58417694-58417695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs114237405	chr6:58417704-58417705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568324149	chr6:58417708-58417709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529281073	chr6:58417717-58417718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551140045	chr6:58417721-58417722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569350522	chr6:58417745-58417746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs1343387	chr6:58417777-58417778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1343388	chr6:58417778-58417779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs66571543	chr6:58417813-58417814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537274954	chr6:58417818-58417819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369301439	chr6:58417821-58417822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs114689642	chr6:58417823-58417824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558750719	chr6:58417851-58417852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146188546	chr6:58417855-58417856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534566606	chr6:58417872-58417873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192123050	chr6:58417886-58417887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1343389	chr6:58417898-58417899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574396840	chr6:58417962-58417963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541788364	chr6:58417996-58417997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556672223	chr6:58418006-58418007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188176062	chr6:58418010-58418011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546012408	chr6:58418016-58418017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564295289	chr6:58418052-58418053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1343390	chr6:58418053-58418054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528793687	chr6:58418071-58418072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540612644	chr6:58418141-58418142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573367052	chr6:58418182-58418183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs9500107	chr6:58418191-58418192	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs529296682	chr6:58418333-58418334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550976598	chr6:58418347-58418348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569387321	chr6:58418380-58418381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533436038	chr6:58418391-58418392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552403007	chr6:58418519-58418520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1675654	chr6:58418617-58418618	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs534806727	chr6:58418657-58418658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs553021403	chr6:58418693-58418694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2996179	chr6:58418712-58418713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568329474	chr6:58418727-58418728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535098571	chr6:58418741-58418742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369309053	chr6:58418743-58418744	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:58417400-58419000	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr6:58417800-58418800	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr6:58417800-58419000	Enhancers	HUES6 Cell Line	embryonic stem cell

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