Variant report

Variant	esv14923
Chromosome Location	chr3:164125407-164126040
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534330360	chr3:164125423-164125424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554183852	chr3:164125431-164125432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572701933	chr3:164125458-164125459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546060121	chr3:164125466-164125467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574091988	chr3:164125474-164125475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150907840	chr3:164125487-164125488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs35339579	chr3:164125500-164125501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186510167	chr3:164125560-164125561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190900189	chr3:164125561-164125562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs9840047	chr3:164125572-164125573	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs559392547	chr3:164125575-164125576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182337461	chr3:164125590-164125591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541752270	chr3:164125599-164125600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187446849	chr3:164125618-164125619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs193011171	chr3:164125627-164125628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550309875	chr3:164125636-164125637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139386758	chr3:164125696-164125697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9840091	chr3:164125746-164125747	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs552697439	chr3:164125752-164125753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs79037661	chr3:164125759-164125760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535375499	chr3:164125802-164125803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554819798	chr3:164125842-164125843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182969327	chr3:164125844-164125845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536615340	chr3:164125866-164125867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs9864025	chr3:164125899-164125900	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs9844292	chr3:164125983-164125984	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs9864184	chr3:164126008-164126009	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs547505538	chr3:164126016-164126017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs13098909	chr3:164126023-164126024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553175627	chr3:164126038-164126039	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Bladder cancer	21909424	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Alcoholism	21790672	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:164124200-164126000	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr3:164125200-164126200	Enhancers	Colon Smooth Muscle	Colon
3	chr3:164125800-164127600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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