Variant report

Variant	nsv1002406
Chromosome Location	chr3:191380544-191404841
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:191401415..191403217-chr3:191403592..191405646,2	K562	blood:
2	chr3:191401415..191403217-chr3:191403592..191405646,2	K562	blood:
3	chr3:191395265..191397942-chr3:191403159..191405641,2	MCF-7	breast:
4	chr3:191395265..191397942-chr3:191403159..191405641,2	MCF-7	breast:

Extended variants
information (count: 1116 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1116 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184031493	chr3:191380565-191380566	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73058927	chr3:191380566-191380567	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569317536	chr3:191380628-191380629	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538244344	chr3:191380647-191380648	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558090189	chr3:191380664-191380665	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140491163	chr3:191380682-191380683	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376457242	chr3:191380700-191380701	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150420338	chr3:191380747-191380748	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138239350	chr3:191380777-191380778	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs180782328	chr3:191380781-191380782	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187405917	chr3:191380804-191380805	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562839506	chr3:191380833-191380834	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190592195	chr3:191380846-191380847	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556271382	chr3:191380880-191380881	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114667683	chr3:191380881-191380882	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564866258	chr3:191380900-191380901	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs36033113	chr3:191380910-191380911	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs373227943	chr3:191380943-191380944	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561129876	chr3:191380974-191380975	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530022730	chr3:191380984-191380985	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142717183	chr3:191381003-191381004	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34180265	chr3:191381068-191381069	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs536927492	chr3:191381087-191381088	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146156235	chr3:191381097-191381098	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139013334	chr3:191381098-191381099	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571735874	chr3:191381148-191381149	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553309744	chr3:191381205-191381206	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149411558	chr3:191381218-191381219	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573949386	chr3:191381247-191381248	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536543908	chr3:191381310-191381311	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556478903	chr3:191381338-191381339	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573439835	chr3:191381357-191381358	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545609865	chr3:191381368-191381369	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558338925	chr3:191381379-191381380	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369083910	chr3:191381407-191381408	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540626104	chr3:191381414-191381415	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144777219	chr3:191381457-191381458	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148550878	chr3:191381504-191381505	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543726573	chr3:191381518-191381519	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563603967	chr3:191381571-191381572	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7621570	chr3:191381576-191381577	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs181939240	chr3:191381580-191381581	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141214923	chr3:191381581-191381582	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561318788	chr3:191381603-191381604	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529972877	chr3:191381609-191381610	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547531414	chr3:191381622-191381623	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373009972	chr3:191381634-191381635	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374250709	chr3:191381702-191381703	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186970977	chr3:191381730-191381731	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147365778	chr3:191381743-191381744	Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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	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
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Lung cancer	19547694	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Optic atrophy	21457585	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	16397240	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191380400-191383600	Strong transcription	HUES6 Cell Line	embryonic stem cell
2	chr3:191383600-191383800	Genic enhancers	HUES6 Cell Line	embryonic stem cell
3	chr3:191383800-191384200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
4	chr3:191384200-191384800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr3:191384800-191389800	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr3:191387800-191388200	Active TSS	H9 Cell Line	embryonic stem cell
7	chr3:191389600-191390800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr3:191389800-191390000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr3:191390000-191391000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr3:191390200-191390600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr3:191390800-191406400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr3:191391000-191391800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr3:191391800-191392000	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr3:191392000-191392200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
15	chr3:191392200-191404400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr3:191398600-191399200	Enhancers	Fetal Heart	heart
17	chr3:191399200-191399400	Enhancers	Stomach Mucosa	stomach
18	chr3:191400800-191401400	Enhancers	Ovary	ovary
19	chr3:191401000-191401400	Enhancers	Stomach Mucosa	stomach
20	chr3:191404200-191404800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr3:191404200-191405000	Enhancers	Fetal Heart	heart
22	chr3:191404400-191404800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr3:191404400-191404800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr3:191404400-191404800	Enhancers	HepG2	liver
25	chr3:191404400-191405000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr3:191404600-191404800	Enhancers	H9 Cell Line	embryonic stem cell
27	chr3:191404600-191404800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr3:191404600-191404800	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr3:191404600-191404800	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr3:191404600-191404800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr3:191404800-191406200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr3:191404800-191406200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr3:191404800-191406400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr3:191404800-191406400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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