Variant report

Variant	esv16422
Chromosome Location	chr3:160680271-160685991
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:160680508..160683340-chr3:160683641..160685438,2	MCF-7	breast:
2	chr3:160683839..160685876-chr3:160685916..160688095,2	K562	blood:
3	chr3:160685063..160687568-chr3:161087715..161090731,3	MCF-7	breast:
4	chr3:160680508..160683340-chr3:160683641..160685438,2	MCF-7	breast:
5	chr3:160683839..160685876-chr3:160685916..160688095,2	K562	blood:

Variant related genes	Relation type
ENSG00000196542	chromatin interactions

Extended variants
information (count: 206 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:206 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184082282	chr3:160680344-160680345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555503078	chr3:160680364-160680365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575564556	chr3:160680486-160680487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537965151	chr3:160680505-160680506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533428144	chr3:160680606-160680607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558239734	chr3:160680697-160680698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7356012	chr3:160680706-160680707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11430313	chr3:160680762-160680763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs397695285	chr3:160680771-160680772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs397729700	chr3:160680772-160680773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199892434	chr3:160680773-160680774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200997597	chr3:160680774-160680775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188927958	chr3:160680787-160680788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540871469	chr3:160680796-160680797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551967175	chr3:160680800-160680801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7356013	chr3:160680883-160680884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560654380	chr3:160680894-160680895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140256217	chr3:160680939-160680940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543277478	chr3:160680952-160680953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376237178	chr3:160680958-160680959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561545472	chr3:160680962-160680963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115692684	chr3:160681005-160681006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs55672403	chr3:160681026-160681027	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs192703380	chr3:160681036-160681037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551183163	chr3:160681051-160681052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532852846	chr3:160681060-160681061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546421087	chr3:160681087-160681088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7356014	chr3:160681101-160681102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183723523	chr3:160681202-160681203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138493613	chr3:160681211-160681212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549221472	chr3:160681215-160681216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530624321	chr3:160681289-160681290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141089983	chr3:160681306-160681307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186948412	chr3:160681314-160681315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558176355	chr3:160681325-160681326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191740867	chr3:160681343-160681344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184237088	chr3:160681408-160681409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554428541	chr3:160681438-160681439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574143319	chr3:160681457-160681458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542961387	chr3:160681471-160681472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563149289	chr3:160681507-160681508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576659494	chr3:160681523-160681524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567312610	chr3:160681532-160681533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534585336	chr3:160681559-160681560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs117238988	chr3:160681593-160681594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563721782	chr3:160681599-160681600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532889710	chr3:160681612-160681613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1562464	chr3:160681614-160681615	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs571543549	chr3:160681632-160681633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs16831667	chr3:160681644-160681645	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:57)

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
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	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
Effusion lymphoma	18079361	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160667400-160696000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr3:160670200-160686600	Weak transcription	Fetal Muscle Leg	muscle
3	chr3:160670400-160686400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr3:160670400-160700400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr3:160670600-160682200	Weak transcription	Left Ventricle	heart
6	chr3:160678400-160697600	Weak transcription	Primary T cells from cord blood	blood
7	chr3:160679000-160686600	Weak transcription	Colon Smooth Muscle	Colon
8	chr3:160680000-160683600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:160680000-160684400	Weak transcription	Dnd41	blood
10	chr3:160681000-160686600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:160681600-160684800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr3:160682200-160682400	Strong transcription	Left Ventricle	heart
13	chr3:160682400-160686600	Weak transcription	Left Ventricle	heart
14	chr3:160683600-160684800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:160683800-160687000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr3:160684400-160684600	ZNF genes & repeats	Dnd41	blood
17	chr3:160684400-160685200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:160684600-160685400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:160684600-160689200	Weak transcription	Dnd41	blood
20	chr3:160684800-160685400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
21	chr3:160685200-160686800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:160685400-160686800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr3:160685400-160687000	Weak transcription	Primary hematopoietic stem cells	blood

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