Variant report

Variant	esv2502603
Chromosome Location	chr3:28167062-28168554
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	chr3:28159859..28162857-chr3:28168438..28170646,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187287538	chr3:28167094-28167095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs73822527	chr3:28167112-28167113	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs568401271	chr3:28167123-28167124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370925699	chr3:28167129-28167130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374692055	chr3:28167195-28167196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554322672	chr3:28167256-28167257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190646454	chr3:28167263-28167264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111474119	chr3:28167332-28167333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557240730	chr3:28167405-28167406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113630608	chr3:28167430-28167431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78610006	chr3:28167468-28167469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79780538	chr3:28167492-28167493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545812911	chr3:28167531-28167532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559614488	chr3:28167548-28167549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572320208	chr3:28167561-28167562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550946926	chr3:28167571-28167572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536456779	chr3:28167603-28167604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549913188	chr3:28167641-28167642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540112632	chr3:28167685-28167686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368197406	chr3:28167729-28167730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561183596	chr3:28167730-28167731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570439783	chr3:28167759-28167760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191694840	chr3:28167772-28167773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549956243	chr3:28167773-28167774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183115094	chr3:28167774-28167775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539030864	chr3:28167779-28167780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532585667	chr3:28167802-28167803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115140509	chr3:28167813-28167814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187652265	chr3:28167847-28167848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71319035	chr3:28167856-28167857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149688090	chr3:28167858-28167859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528035383	chr3:28167885-28167886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548210379	chr3:28167900-28167901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113056141	chr3:28167934-28167935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71624702	chr3:28167935-28167936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs398051733	chr3:28167959-28167960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192642383	chr3:28168029-28168030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188592056	chr3:28168066-28168067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557177483	chr3:28168133-28168134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546700302	chr3:28168156-28168157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570626028	chr3:28168217-28168218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112412074	chr3:28168236-28168237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150948565	chr3:28168237-28168238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539640530	chr3:28168243-28168244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71626503	chr3:28168252-28168253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185684356	chr3:28168263-28168264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9814632	chr3:28168361-28168362	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs145498986	chr3:28168390-28168391	Weak transcription	n/a	n/a	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:28165600-28167400	Enhancers	Primary B cells from peripheral blood	blood
2	chr3:28166400-28167200	Enhancers	Dnd41	blood
3	chr3:28166600-28167400	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr3:28167000-28167400	Enhancers	Primary B cells from cord blood	blood
5	chr3:28167400-28168400	Weak transcription	Primary B cells from cord blood	blood

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