Variant report

Variant	esv3433041
Chromosome Location	chr3:162424808-162427606
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 171 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:171 , 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	rs187867790	chr3:162424811-162424812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190725387	chr3:162424815-162424816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149392564	chr3:162424841-162424842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371773556	chr3:162424986-162424987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569668238	chr3:162425005-162425006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538769746	chr3:162425006-162425007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560190422	chr3:162425061-162425062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541893870	chr3:162425069-162425070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144786562	chr3:162425078-162425079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73165566	chr3:162425080-162425081	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs534878792	chr3:162425081-162425082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555248477	chr3:162425082-162425083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574994302	chr3:162425086-162425087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372361822	chr3:162425100-162425101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183015049	chr3:162425101-162425102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556962564	chr3:162425109-162425110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78459205	chr3:162425151-162425152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370042955	chr3:162425188-162425189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6786908	chr3:162425199-162425200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs13093528	chr3:162425249-162425250	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs559390237	chr3:162425266-162425267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527482539	chr3:162425308-162425309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540825712	chr3:162425311-162425312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561125486	chr3:162425336-162425337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148578342	chr3:162425364-162425365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113887141	chr3:162425394-162425395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142016334	chr3:162425435-162425436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564779390	chr3:162425452-162425453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34076775	chr3:162425463-162425464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532112657	chr3:162425482-162425483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552323562	chr3:162425492-162425493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6441543	chr3:162425521-162425522	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs535231189	chr3:162425546-162425547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370158159	chr3:162425572-162425573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs16851579	chr3:162425595-162425596	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs9839936	chr3:162425618-162425619	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs187964799	chr3:162425675-162425676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557197473	chr3:162425751-162425752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111626179	chr3:162425823-162425824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62793161	chr3:162425824-162425825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs386398400	chr3:162425825-162425826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs397826908	chr3:162425826-162425827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200277663	chr3:162425827-162425828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201217997	chr3:162425829-162425830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576847574	chr3:162425838-162425839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140370619	chr3:162425879-162425880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545742075	chr3:162425916-162425917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192818503	chr3:162425950-162425951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184209171	chr3:162425983-162425984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6778765	chr3:162426028-162426029	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:63)

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
small cell lung cancer	20016488	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
Breast cancer	21364760	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
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162421200-162428200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:162421800-162425400	Enhancers	Dnd41	blood
3	chr3:162422800-162429400	Weak transcription	Colon Smooth Muscle	Colon
4	chr3:162423000-162426600	Weak transcription	A549	lung
5	chr3:162423400-162426000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:162424600-162425000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr3:162424800-162425000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr3:162425000-162428000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr3:162425400-162426600	Weak transcription	Dnd41	blood
10	chr3:162426000-162426600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:162426600-162426800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:162426600-162427000	Active TSS	A549	lung
13	chr3:162426600-162428200	Enhancers	Dnd41	blood
14	chr3:162426800-162427600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr3:162427000-162427200	Flanking Active TSS	A549	lung
16	chr3:162427200-162427400	Enhancers	A549	lung
17	chr3:162427200-162427600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr3:162427400-162429400	Weak transcription	A549	lung
19	chr3:162427600-162429400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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