Variant report

Variant	nsv981150
Chromosome Location	chr6:58447945-58452952
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:58451233-58451313	Kidney_OC	kidney:	n/a	n/a
2	CTCF	chr6:58449972-58450055	GM20000	blood:	n/a	n/a

Variant related genes	Relation type
RBBP4P4	TF binding region

Extended variants
information (count: 77 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2996170	chr6:58449988-58449989	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs547550345	chr6:58450010-58450011	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs566692407	chr6:58450035-58450036	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs567461222	chr6:58450822-58450823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150184906	chr6:58450831-58450832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs13196183	chr6:58450846-58450847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550079849	chr6:58450859-58450860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571258535	chr6:58450947-58450948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538225430	chr6:58450967-58450968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553831530	chr6:58450994-58450995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs111241310	chr6:58451017-58451018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535930792	chr6:58451023-58451024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184916279	chr6:58451036-58451037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529648684	chr6:58451054-58451055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200825410	chr6:58451055-58451056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs202210178	chr6:58451056-58451057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs55909200	chr6:58451057-58451058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145161722	chr6:58451058-58451059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576207463	chr6:58451103-58451104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537381043	chr6:58451115-58451116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558951128	chr6:58451118-58451119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577190570	chr6:58451129-58451130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541019880	chr6:58451166-58451167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189676926	chr6:58451237-58451238	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs575028328	chr6:58451252-58451253	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs1461460	chr6:58451356-58451357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570701409	chr6:58451367-58451368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542341968	chr6:58451390-58451391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561096706	chr6:58451391-58451392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1461459	chr6:58451416-58451417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531521122	chr6:58451434-58451435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550068220	chr6:58451486-58451487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565008829	chr6:58451576-58451577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1343380	chr6:58451590-58451591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1343381	chr6:58451606-58451607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138743568	chr6:58451616-58451617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182743789	chr6:58451650-58451651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1224732	chr6:58451666-58451667	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs188957828	chr6:58451698-58451699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547864863	chr6:58451713-58451714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542931388	chr6:58451723-58451724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569930451	chr6:58451760-58451761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1343382	chr6:58451813-58451814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs193133130	chr6:58451830-58451831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1343383	chr6:58451842-58451843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559207014	chr6:58451858-58451859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs9500288	chr6:58451867-58451868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs535318876	chr6:58451915-58451916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs2996168	chr6:58452026-58452027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs2996167	chr6:58452029-58452030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:58450800-58453400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:58451000-58452000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:58452000-58452600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:58452600-58452800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:58452800-58454200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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