Variant report

Variant	esv18823
Chromosome Location	chr3:24781380-24785615
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 194 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:194 , 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	rs538897709	chr3:24781449-24781450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145394662	chr3:24781465-24781466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148832929	chr3:24781483-24781484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112076628	chr3:24781530-24781531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569049044	chr3:24781539-24781540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542706469	chr3:24781545-24781546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554610441	chr3:24781621-24781622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7616736	chr3:24781645-24781646	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs544616986	chr3:24781654-24781655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374033222	chr3:24781657-24781658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs59891684	chr3:24781676-24781677	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs530599323	chr3:24781677-24781678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533388181	chr3:24781679-24781680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7616744	chr3:24781687-24781688	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs141852624	chr3:24781695-24781696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560279054	chr3:24781720-24781721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527789228	chr3:24781729-24781730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73035584	chr3:24781780-24781781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567594164	chr3:24781796-24781797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531716863	chr3:24781815-24781816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143439743	chr3:24781840-24781841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181537541	chr3:24781862-24781863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs114637438	chr3:24781935-24781936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114617790	chr3:24781936-24781937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554021861	chr3:24781945-24781946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186009525	chr3:24781982-24781983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs116527515	chr3:24781999-24782000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34622671	chr3:24782006-24782007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566436273	chr3:24782046-24782047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576843179	chr3:24782060-24782061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535458542	chr3:24782075-24782076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546074015	chr3:24782080-24782081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575985786	chr3:24782089-24782090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543382138	chr3:24782092-24782093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558238665	chr3:24782112-24782113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs578207473	chr3:24782125-24782126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545254995	chr3:24782131-24782132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560316217	chr3:24782162-24782163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77953850	chr3:24782163-24782164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542747864	chr3:24782202-24782203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4342056	chr3:24782239-24782240	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs569568131	chr3:24782251-24782252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142032860	chr3:24782272-24782273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142773747	chr3:24782282-24782283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536712485	chr3:24782284-24782285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371149245	chr3:24782285-24782286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531685558	chr3:24782296-24782297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34977362	chr3:24782297-24782298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550166435	chr3:24782330-24782331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371341166	chr3:24782335-24782336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	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
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:24776200-24782600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:24778000-24781600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr3:24779800-24785200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:24780200-24781600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:24781400-24782200	Enhancers	Fetal Muscle Leg	muscle
6	chr3:24781600-24782400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr3:24781600-24783200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr3:24781600-24783400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:24781800-24782600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:24781800-24783000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr3:24782000-24782800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr3:24782000-24783200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr3:24782200-24783000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:24782200-24783200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr3:24782600-24783800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr3:24783400-24785600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:24785200-24785400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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