Variant report

Variant	esv3451771
Chromosome Location	chr3:28262398-28264496
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:28263497..28265020-chr3:28280684..28282522,2	K562	blood:
2	chr3:28261846..28264997-chr3:28280246..28283613,3	K562	blood:
3	chr3:28264340..28266604-chr3:28267937..28269959,2	K562	blood:

Variant related genes	Relation type
ENSG00000187118	chromatin interactions

Extended variants
information (count: 88 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34780118	chr3:28262515-28262516	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs530282273	chr3:28262551-28262552	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs6798101	chr3:28262574-28262575	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs563620136	chr3:28262600-28262601	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs532705987	chr3:28262607-28262608	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs573671454	chr3:28262615-28262616	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs377760621	chr3:28262622-28262623	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs552458428	chr3:28262693-28262694	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs539790037	chr3:28262713-28262714	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs369304558	chr3:28262714-28262715	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs71626507	chr3:28262723-28262724	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs565288430	chr3:28262753-28262754	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs28538928	chr3:28262756-28262757	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs528095187	chr3:28262771-28262772	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs548234785	chr3:28262774-28262775	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs568095632	chr3:28262791-28262792	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs28573197	chr3:28262806-28262807	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs537227252	chr3:28262815-28262816	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs557240882	chr3:28262864-28262865	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs28724573	chr3:28262872-28262873	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs201636729	chr3:28262885-28262886	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs151127050	chr3:28262891-28262892	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs560336796	chr3:28262897-28262898	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs570751322	chr3:28262911-28262912	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs200390857	chr3:28263004-28263005	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs151093289	chr3:28263011-28263012	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs562678432	chr3:28263065-28263066	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs77628086	chr3:28263085-28263086	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs184412187	chr3:28263090-28263091	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs201527000	chr3:28263211-28263212	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs189345118	chr3:28263243-28263244	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs545859577	chr3:28263285-28263286	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs371075718	chr3:28263315-28263316	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs150246909	chr3:28263324-28263325	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs59158630	chr3:28263353-28263354	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs71295068	chr3:28263356-28263357	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs113574736	chr3:28263362-28263363	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs186200724	chr3:28263381-28263382	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs555033354	chr3:28263411-28263412	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs374154466	chr3:28263426-28263427	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs7614914	chr3:28263431-28263432	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs563498957	chr3:28263433-28263434	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs532567277	chr3:28263484-28263485	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs546057603	chr3:28263500-28263501	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs545325996	chr3:28263507-28263508	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs60375581	chr3:28263530-28263531	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs562233870	chr3:28263539-28263540	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs547904249	chr3:28263540-28263541	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs568143109	chr3:28263556-28263557	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs189105159	chr3:28263600-28263601	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:28263800-28264200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr3:28264000-28264400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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