Variant report

Variant	esv3407930
Chromosome Location	chr3:54749512-54753810
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 152 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:152 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569128674	chr3:54749533-54749534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537911759	chr3:54749536-54749537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377523742	chr3:54749537-54749538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138250975	chr3:54749553-54749554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551467390	chr3:54749575-54749576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149219868	chr3:54749611-54749612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541089749	chr3:54749637-54749638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533647210	chr3:54749685-54749686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534198245	chr3:54749784-54749785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559402473	chr3:54749839-54749840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76030460	chr3:54749849-54749850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535413804	chr3:54749878-54749879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555573707	chr3:54749889-54749890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577844383	chr3:54749931-54749932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181891759	chr3:54749967-54749968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544284488	chr3:54749982-54749983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545268208	chr3:54749992-54749993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564049106	chr3:54750026-54750027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564167107	chr3:54750049-54750050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147345699	chr3:54750077-54750078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577851670	chr3:54750079-54750080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368482222	chr3:54750081-54750082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185184889	chr3:54750090-54750091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73072204	chr3:54750107-54750108	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs199672526	chr3:54750120-54750121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556009986	chr3:54750151-54750152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146901025	chr3:54750166-54750167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139071721	chr3:54750169-54750170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562699556	chr3:54750209-54750210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13084602	chr3:54750311-54750312	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs142973216	chr3:54750312-54750313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371475254	chr3:54750360-54750361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571400090	chr3:54750395-54750396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs634393	chr3:54750421-54750422	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs538875218	chr3:54750459-54750460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547749056	chr3:54750472-54750473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113480527	chr3:54750481-54750482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147028258	chr3:54750487-54750488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190516586	chr3:54750513-54750514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553856851	chr3:54750517-54750518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569220782	chr3:54750609-54750610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538028863	chr3:54750611-54750612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558017034	chr3:54750614-54750615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577643731	chr3:54750635-54750636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539973583	chr3:54750682-54750683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569144116	chr3:54750692-54750693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573561890	chr3:54750712-54750713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374690495	chr3:54750728-54750729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562841518	chr3:54750737-54750738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531924623	chr3:54750740-54750741	Weak transcription	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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54743800-54751400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:54745200-54750200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:54745200-54751600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr3:54746800-54751600	Weak transcription	Right Atrium	heart
5	chr3:54750200-54750400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr3:54751200-54751600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr3:54751400-54751600	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:54751400-54751600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:54751400-54751600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:54751400-54752000	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:54751600-54751800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
12	chr3:54751600-54751800	ZNF genes & repeats	Esophagus	oesophagus
13	chr3:54751600-54751800	Enhancers	Right Atrium	heart
14	chr3:54751600-54751800	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr3:54751600-54752000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:54751600-54752000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr3:54751600-54752000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:54751600-54752000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr3:54751600-54752000	Bivalent/Poised TSS	Fetal Lung	lung
20	chr3:54752000-54752200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:54752000-54752800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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