Variant report

Variant	nsv1010348
Chromosome Location	chr3:54435563-54508115
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	chr3:53975728..53976241-chr3:54467635..54468465,2	MCF-7	breast:
2	chr3:54467613..54468517-chr3:54511646..54512238,3	MCF-7	breast:
3	chr3:53972762..53973440-chr3:54466985..54468092,3	MCF-7	breast:
4	chr3:54180353..54181315-chr3:54467438..54468079,2	MCF-7	breast:
5	chr3:54375174..54375975-chr3:54461350..54461870,2	MCF-7	breast:
6	chr3:54462064..54462651-chr3:55047338..55047880,2	MCF-7	breast:
7	chr3:54477529..54479900-chr3:54479962..54482287,2	MCF-7	breast:
8	chr3:54467626..54468675-chr3:54567589..54568828,8	MCF-7	breast:
9	chr3:54477529..54479900-chr3:54479962..54482287,2	MCF-7	breast:
10	chr3:54467585..54468369-chr3:54511234..54512210,5	MCF-7	breast:

No data

Extended variants
information (count: 1250 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1250 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143803826	chr3:54452844-54452845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs36053038	chr3:54452845-54452846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191993478	chr3:54452854-54452855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6777368	chr3:54452874-54452875	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs6445656	chr3:54452887-54452888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576274958	chr3:54452890-54452891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545322144	chr3:54452900-54452901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs151110834	chr3:54452933-54452934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571753762	chr3:54452948-54452949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540613955	chr3:54452955-54452956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560658838	chr3:54452977-54452978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529746713	chr3:54452979-54452980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543673795	chr3:54452992-54452993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563869402	chr3:54453019-54453020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116295989	chr3:54453027-54453028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552930207	chr3:54453072-54453073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142365185	chr3:54453092-54453093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528506426	chr3:54453124-54453125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6445657	chr3:54453131-54453132	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs562278279	chr3:54453172-54453173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568594071	chr3:54453180-54453181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529555136	chr3:54453195-54453196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528314876	chr3:54458028-54458029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190457591	chr3:54458052-54458053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376596369	chr3:54458061-54458062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547539743	chr3:54458095-54458096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs139815622	chr3:54458124-54458125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567888966	chr3:54458127-54458128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183400808	chr3:54458128-54458129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs371017532	chr3:54458169-54458170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113730280	chr3:54458204-54458205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550190066	chr3:54458227-54458228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs78238387	chr3:54458288-54458289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112370275	chr3:54458373-54458374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs80231758	chr3:54458398-54458399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs77952377	chr3:54458400-54458401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559134439	chr3:54458508-54458509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566138386	chr3:54458554-54458555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs72973133	chr3:54458555-54458556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553902605	chr3:54458582-54458583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573740403	chr3:54458594-54458595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542936643	chr3:54458652-54458653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71993025	chr3:54458658-54458659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556180757	chr3:54458675-54458676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575672841	chr3:54458734-54458735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373392693	chr3:54458741-54458742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538516514	chr3:54458819-54458820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544567360	chr3:54458871-54458872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564645555	chr3:54458881-54458882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557730771	chr3:54458910-54458911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Renal cell carcinoma	18765545	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54452800-54453200	Enhancers	Adipose Nuclei	Adipose
2	chr3:54458000-54458800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr3:54458200-54458800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr3:54458200-54463000	Enhancers	Hela-S3	cervix
5	chr3:54458400-54458600	Enhancers	Brain Germinal Matrix	brain
6	chr3:54458400-54458800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:54458400-54458800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr3:54458400-54458800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:54458400-54458800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:54458400-54458800	Enhancers	Brain Cingulate Gyrus	brain
11	chr3:54458600-54459800	Weak transcription	Brain Germinal Matrix	brain
12	chr3:54458800-54461600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr3:54458800-54461600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr3:54458800-54461800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:54458800-54461800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr3:54458800-54462600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr3:54459600-54459800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr3:54459800-54460200	Enhancers	Fetal Muscle Leg	muscle
19	chr3:54459800-54461400	Enhancers	Brain Germinal Matrix	brain
20	chr3:54459800-54462400	Enhancers	Colon Smooth Muscle	Colon
21	chr3:54460000-54462400	Enhancers	HSMMtube	muscle
22	chr3:54460200-54461200	Weak transcription	Fetal Muscle Leg	muscle
23	chr3:54460400-54463000	Enhancers	Rectal Smooth Muscle	rectum
24	chr3:54460600-54461000	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr3:54460600-54462400	Enhancers	HSMM	muscle
26	chr3:54460600-54463000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:54460600-54463600	Enhancers	NHDF-Ad	bronchial
28	chr3:54460800-54461600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr3:54461000-54461400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr3:54461000-54461800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr3:54461000-54463200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:54461200-54462000	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr3:54461200-54463200	Enhancers	Fetal Muscle Leg	muscle
34	chr3:54461400-54461800	Enhancers	NH-A	brain
35	chr3:54461400-54462200	Weak transcription	Brain Germinal Matrix	brain
36	chr3:54461400-54462200	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr3:54461600-54461800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr3:54461600-54461800	Enhancers	Muscle Satellite Cultured Cells	--
39	chr3:54461600-54462000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr3:54461600-54462000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr3:54461600-54462000	Enhancers	Esophagus	oesophagus
42	chr3:54461600-54462200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr3:54461600-54462400	Enhancers	Osteobl	bone
44	chr3:54461600-54463400	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr3:54461600-54463400	Enhancers	Fetal Brain Male	brain
46	chr3:54461800-54462000	Flanking Active TSS	NH-A	brain
47	chr3:54461800-54462200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr3:54461800-54462200	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr3:54461800-54462200	Enhancers	Fetal Brain Female	brain
50	chr3:54461800-54462200	Enhancers	Placenta	Placenta

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