Variant report

Variant	esv2751999
Chromosome Location	chr3:28660626-28705796
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:28686840..28688527-chr3:28691357..28693797,2	K562	blood:
2	chr3:28687335..28690296-chr3:28691879..28693645,2	MCF-7	breast:
3	chr3:28686840..28688527-chr3:28691357..28693797,2	K562	blood:
4	chr3:28652904..28655758-chr3:28658180..28660638,2	K562	blood:
5	chr3:28687335..28690296-chr3:28691879..28693645,2	MCF-7	breast:
6	chr3:28695967..28696467-chr9:132388013..132388783,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000148335	chromatin interactions

Extended variants
information (count: 751 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:751 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535638933	chr3:28670419-28670420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs112601661	chr3:28670448-28670449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139588731	chr3:28670449-28670450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531914418	chr3:28670477-28670478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560859434	chr3:28670479-28670480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs60169737	chr3:28670480-28670481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs71624305	chr3:28670481-28670482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7640750	chr3:28670486-28670487	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs370297318	chr3:28670512-28670513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79349555	chr3:28670543-28670544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548600332	chr3:28670544-28670545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147875851	chr3:28670568-28670569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs56248362	chr3:28670574-28670575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539100011	chr3:28670591-28670592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569157608	chr3:28670657-28670658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140220338	chr3:28670714-28670715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571209240	chr3:28670716-28670717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs80170140	chr3:28670738-28670739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142447401	chr3:28677432-28677433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs76999733	chr3:28677457-28677458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368138557	chr3:28677511-28677512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150887934	chr3:28677515-28677516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs139716065	chr3:28677521-28677522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185757937	chr3:28677530-28677531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374757301	chr3:28677550-28677551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115166524	chr3:28677563-28677564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191000365	chr3:28677565-28677566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182766125	chr3:28677567-28677568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557970214	chr3:28677569-28677570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185389974	chr3:28677634-28677635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540441481	chr3:28677715-28677716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs544716781	chr3:28677796-28677797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532349385	chr3:28677798-28677799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144347672	chr3:28677815-28677816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542907109	chr3:28677836-28677837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372230206	chr3:28677839-28677840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563159195	chr3:28677897-28677898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531212311	chr3:28677909-28677910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116247871	chr3:28677953-28677954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564846013	chr3:28677980-28677981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190252071	chr3:28678000-28678001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564852927	chr3:28678610-28678611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs79565207	chr3:28678616-28678617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541116842	chr3:28678639-28678640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560924124	chr3:28678659-28678660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529918465	chr3:28678661-28678662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564593849	chr3:28678665-28678666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs72894800	chr3:28678725-28678726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552074992	chr3:28678730-28678731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550724211	chr3:28678823-28678824	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
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
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16618734	CNVD
Cancer	20164919	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:28670400-28670800	Enhancers	Brain Anterior Caudate	brain
2	chr3:28677400-28677800	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr3:28677600-28678000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr3:28678600-28679800	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr3:28679000-28679200	Enhancers	Psoas Muscle	Psoas
6	chr3:28679800-28680000	Enhancers	Psoas Muscle	Psoas
7	chr3:28681000-28688000	Weak transcription	Aorta	Aorta
8	chr3:28684400-28684600	Enhancers	Gastric	stomach
9	chr3:28684600-28686600	Weak transcription	Gastric	stomach
10	chr3:28685600-28686000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr3:28686600-28687000	Enhancers	Fetal Lung	lung
12	chr3:28686600-28687000	Enhancers	Gastric	stomach
13	chr3:28686600-28687000	Enhancers	Pancreas	Pancrea
14	chr3:28686600-28687000	Enhancers	Psoas Muscle	Psoas
15	chr3:28687000-28687800	Weak transcription	Pancreas	Pancrea
16	chr3:28687000-28688000	Weak transcription	Gastric	stomach
17	chr3:28687000-28688000	Weak transcription	Psoas Muscle	Psoas
18	chr3:28687600-28688200	Enhancers	HepG2	liver
19	chr3:28688000-28688200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr3:28688000-28688200	Enhancers	Aorta	Aorta
21	chr3:28688000-28688200	Enhancers	Gastric	stomach
22	chr3:28688000-28688200	Enhancers	Pancreas	Pancrea
23	chr3:28688000-28688200	Enhancers	Psoas Muscle	Psoas
24	chr3:28688000-28688400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr3:28688000-28688400	Enhancers	Lung	lung
26	chr3:28688000-28688400	Enhancers	Ovary	ovary
27	chr3:28688200-28693200	Weak transcription	Psoas Muscle	Psoas
28	chr3:28688200-28694600	Weak transcription	Gastric	stomach
29	chr3:28692600-28693200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr3:28697800-28698000	Enhancers	Psoas Muscle	Psoas
31	chr3:28699800-28700000	Enhancers	Aorta	Aorta
32	chr3:28700000-28704200	Weak transcription	Aorta	Aorta
33	chr3:28702600-28702800	Enhancers	Ovary	ovary
34	chr3:28702800-28704000	Weak transcription	Ovary	ovary
35	chr3:28703000-28709000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr3:28704000-28704200	Enhancers	Ovary	ovary
37	chr3:28704000-28705800	Enhancers	Psoas Muscle	Psoas
38	chr3:28704200-28704600	Flanking Active TSS	Ovary	ovary
39	chr3:28704200-28705800	Enhancers	Aorta	Aorta
40	chr3:28704200-28705800	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr3:28704600-28705800	Enhancers	Ovary	ovary
42	chr3:28704800-28706200	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr3:28705200-28705800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr3:28705400-28705600	Enhancers	HSMMtube	muscle
45	chr3:28705400-28705800	Enhancers	Right Atrium	heart
46	chr3:28705400-28705800	Enhancers	Right Ventricle	heart
47	chr3:28705600-28705800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr3:28705600-28709400	Weak transcription	HSMMtube	muscle

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