Variant report

Variant	esv2754928
Chromosome Location	chr3:24913845-24957017
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:57861594..57864060-chr3:24935061..24936561,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267637	chromatin interactions

Extended variants
information (count: 623 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:623 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150327050	chr3:24919003-24919004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548704987	chr3:24919040-24919041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571827395	chr3:24919047-24919048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576351030	chr3:24919053-24919054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77415150	chr3:24919062-24919063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528339579	chr3:24919095-24919096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570480375	chr3:24919109-24919110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548393440	chr3:24919134-24919135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200428189	chr3:24919171-24919172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552972650	chr3:24919186-24919187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115655805	chr3:24919190-24919191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12493197	chr3:24919200-24919201	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs144362251	chr3:24919206-24919207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139010006	chr3:24919218-24919219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545057747	chr3:24919285-24919286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575412890	chr3:24919289-24919290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185414221	chr3:24919296-24919297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs141178810	chr3:24919309-24919310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190216882	chr3:24919321-24919322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541737331	chr3:24919364-24919365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559780112	chr3:24919365-24919366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565406959	chr3:24919378-24919379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542061238	chr3:24919388-24919389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563501152	chr3:24919399-24919400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530865557	chr3:24924229-24924230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552296034	chr3:24924234-24924235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564469519	chr3:24924235-24924236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs376768430	chr3:24924278-24924279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571047918	chr3:24924322-24924323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546848705	chr3:24924343-24924344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs138157683	chr3:24924382-24924383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535639634	chr3:24924397-24924398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142535802	chr3:24924414-24924415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2362775	chr3:24924421-24924422	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs539500536	chr3:24924427-24924428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557486412	chr3:24924443-24924444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190648316	chr3:24924473-24924474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs535035535	chr3:24924478-24924479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571778962	chr3:24924494-24924495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs6550923	chr3:24924495-24924496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554262553	chr3:24924510-24924511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs375668262	chr3:24924533-24924534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542020725	chr3:24924543-24924544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545947722	chr3:24924549-24924550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557091154	chr3:24924678-24924679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370354034	chr3:24924705-24924706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575348538	chr3:24924753-24924754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546248491	chr3:24924794-24924795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368557682	chr3:24924848-24924849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs3221508	chr3:24924850-24924851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:24919000-24919400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:24924200-24924600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:24924600-24928000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:24927800-24928400	Enhancers	Fetal Kidney	kidney
5	chr3:24928000-24928200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:24928000-24928200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:24928200-24929400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:24929400-24929600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:24930400-24930600	Enhancers	Fetal Lung	lung
10	chr3:24930600-24931600	Weak transcription	Fetal Lung	lung
11	chr3:24931600-24931800	Enhancers	Fetal Lung	lung
12	chr3:24934000-24934200	Enhancers	Fetal Lung	lung
13	chr3:24940400-24942600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:24943800-24944000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr3:24948400-24949400	Enhancers	Fetal Lung	lung
16	chr3:24952000-24952600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:24952000-24952800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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