Variant report

Variant	esv3463595
Chromosome Location	chr3:162448966-162449837
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	chr3:162449508..162452375-chr3:162459605..162462257,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13088590	chr3:162448974-162448975	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs138399398	chr3:162448980-162448981	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538282705	chr3:162448994-162448995	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9835079	chr3:162449000-162449001	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs188156156	chr3:162449009-162449010	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540319100	chr3:162449039-162449040	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141367608	chr3:162449061-162449062	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572667014	chr3:162449109-162449110	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377752433	chr3:162449142-162449143	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541606940	chr3:162449165-162449166	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs72096218	chr3:162449167-162449168	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs202212022	chr3:162449170-162449171	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77788068	chr3:162449181-162449182	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528144163	chr3:162449183-162449184	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561673975	chr3:162449186-162449187	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530705903	chr3:162449204-162449205	Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs544205830	chr3:162449209-162449210	Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs563879391	chr3:162449228-162449229	Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs145157621	chr3:162449291-162449292	Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs148388503	chr3:162449341-162449342	Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs560276279	chr3:162449378-162449379	Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs546737886	chr3:162449386-162449387	Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs191507097	chr3:162449389-162449390	Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs549597058	chr3:162449391-162449392	Genic enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs569610006	chr3:162449464-162449465	Genic enhancers Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184035532	chr3:162449466-162449467	Genic enhancers Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551752317	chr3:162449493-162449494	Genic enhancers Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571521523	chr3:162449501-162449502	Genic enhancers Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141125644	chr3:162449505-162449506	Genic enhancers Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs34951402	chr3:162449550-162449551	Genic enhancers Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs189907790	chr3:162449559-162449560	Genic enhancers Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535312093	chr3:162449567-162449568	Genic enhancers Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs111592358	chr3:162449592-162449593	Genic enhancers Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1826855	chr3:162449679-162449680	Genic enhancers Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs375012605	chr3:162449741-162449742	Genic enhancers Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs137964327	chr3:162449828-162449829	Genic enhancers Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558465508	chr3:162449829-162449830	Genic enhancers Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162439800-162459200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr3:162444200-162453800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr3:162446400-162453200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr3:162447800-162449200	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr3:162448000-162450400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:162448800-162449600	Weak transcription	Dnd41	blood
7	chr3:162448800-162450600	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr3:162449200-162452000	Genic enhancers	HUES6 Cell Line	embryonic stem cell
9	chr3:162449400-162450200	Enhancers	Fetal Intestine Large	intestine
10	chr3:162449600-162451400	Enhancers	Dnd41	blood

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