Variant report

Variant	esv3347831
Chromosome Location	chr3:19156997-19179917
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:19179011..19181091-chr3:19184124..19186386,2	K562	blood:
2	chr3:19173946..19176413-chr3:19180560..19183509,2	K562	blood:
3	chr3:19173235..19177074-chr3:19186095..19188671,3	K562	blood:

Extended variants
information (count: 176 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:176 , 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	rs57554756	chr3:19169806-19169807	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143137899	chr3:19169837-19169838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374048806	chr3:19169840-19169841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527274314	chr3:19169849-19169850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542685810	chr3:19169853-19169854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187106301	chr3:19169880-19169881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531329393	chr3:19169892-19169893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560459045	chr3:19169961-19169962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549914281	chr3:19169989-19169990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35019576	chr3:19170060-19170061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564764663	chr3:19170073-19170074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571340259	chr3:19170134-19170135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190434708	chr3:19170218-19170219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546125983	chr3:19170269-19170270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558608830	chr3:19170301-19170302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs527487427	chr3:19170317-19170318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547374079	chr3:19170342-19170343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182935017	chr3:19170376-19170377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74283468	chr3:19170377-19170378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113989625	chr3:19170431-19170432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201313733	chr3:19170440-19170441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531307392	chr3:19170477-19170478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188653817	chr3:19170528-19170529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs193253555	chr3:19170550-19170551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111993314	chr3:19170707-19170708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200405455	chr3:19170765-19170766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs201421310	chr3:19170776-19170777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559041804	chr3:19170790-19170791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112672610	chr3:19170846-19170847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144391922	chr3:19170953-19170954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540727818	chr3:19170965-19170966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553693037	chr3:19170985-19170986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563733934	chr3:19171015-19171016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575219560	chr3:19171018-19171019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542616669	chr3:19171058-19171059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184135068	chr3:19171069-19171070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531370425	chr3:19171104-19171105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs147808186	chr3:19171135-19171136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565036287	chr3:19171187-19171188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375594981	chr3:19171197-19171198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187821371	chr3:19171204-19171205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543293111	chr3:19171227-19171228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191546116	chr3:19171274-19171275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548146566	chr3:19171311-19171312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569937100	chr3:19171340-19171341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs141225825	chr3:19171375-19171376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs146931702	chr3:19171395-19171396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs570966673	chr3:19171494-19171495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs76770005	chr3:19171510-19171511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369374675	chr3:19171526-19171527	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
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
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
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	20531469	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:19169800-19172600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr3:19170600-19171200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:19172600-19175200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:19175200-19175400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links