Variant report

Variant	nsv980026
Chromosome Location	chr3:162328570-162359238
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 949 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:949 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35415607	chr3:162328603-162328604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377211398	chr3:162328619-162328620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370347967	chr3:162328621-162328622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs397875356	chr3:162328629-162328630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142231700	chr3:162328641-162328642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187808883	chr3:162328714-162328715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568197364	chr3:162328750-162328751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530950962	chr3:162328778-162328779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6801378	chr3:162328784-162328785	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs569707135	chr3:162328832-162328833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548227831	chr3:162328893-162328894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538837224	chr3:162328895-162328896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373537210	chr3:162328899-162328900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558859024	chr3:162328929-162328930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566002411	chr3:162328973-162328974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534579044	chr3:162328980-162328981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75233159	chr3:162329089-162329090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191217107	chr3:162329124-162329125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184590803	chr3:162329135-162329136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111687341	chr3:162329164-162329165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557026939	chr3:162329206-162329207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189554352	chr3:162329285-162329286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181564749	chr3:162329296-162329297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115313075	chr3:162329389-162329390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184815999	chr3:162329395-162329396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371545275	chr3:162329478-162329479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs59675759	chr3:162329481-162329482	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs188893177	chr3:162329482-162329483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545841970	chr3:162329485-162329486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114875854	chr3:162329545-162329546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1382211	chr3:162329579-162329580	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs76007963	chr3:162329593-162329594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115587615	chr3:162329600-162329601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141200761	chr3:162329653-162329654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111748310	chr3:162329654-162329655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150168497	chr3:162329661-162329662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369854376	chr3:162329662-162329663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs3223381	chr3:162329663-162329664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs3046432	chr3:162329664-162329665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71724255	chr3:162329671-162329672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556179896	chr3:162329678-162329679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548064535	chr3:162329681-162329682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34615102	chr3:162329684-162329685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548504510	chr3:162329720-162329721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567922839	chr3:162329725-162329726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537065825	chr3:162329733-162329734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556751124	chr3:162329739-162329740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370625746	chr3:162329785-162329786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181671162	chr3:162329867-162329868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539629553	chr3:162329869-162329870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162317800-162332400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:162327600-162328600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr3:162327800-162328600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr3:162327800-162329000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr3:162327800-162329800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr3:162328000-162328600	Enhancers	H1 Cell Line	embryonic stem cell
7	chr3:162328000-162328600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr3:162328000-162328600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr3:162328400-162328600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr3:162328400-162332200	Weak transcription	Dnd41	blood
11	chr3:162328600-162329800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr3:162328600-162330000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr3:162329000-162329400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr3:162329400-162330400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr3:162329800-162330000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr3:162329800-162330600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr3:162330400-162330800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr3:162330600-162331200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr3:162330800-162331200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr3:162332200-162332800	ZNF genes & repeats	Dnd41	blood
21	chr3:162332400-162332800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:162339400-162342200	ZNF genes & repeats	Dnd41	blood
23	chr3:162342200-162342600	Enhancers	Dnd41	blood
24	chr3:162342600-162343400	Weak transcription	Dnd41	blood
25	chr3:162343400-162344400	Enhancers	Dnd41	blood
26	chr3:162346400-162347400	Enhancers	Dnd41	blood
27	chr3:162346600-162347200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr3:162346800-162347800	Enhancers	HSMM	muscle
29	chr3:162347400-162350200	Weak transcription	Dnd41	blood
30	chr3:162348800-162349800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr3:162350200-162351000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr3:162350200-162352200	Enhancers	Dnd41	blood
33	chr3:162350400-162350800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr3:162350600-162351400	Enhancers	A549	lung
35	chr3:162352200-162353800	Weak transcription	Dnd41	blood
36	chr3:162353800-162356400	ZNF genes & repeats	Dnd41	blood
37	chr3:162355200-162355800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
38	chr3:162355200-162356200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
39	chr3:162356200-162357400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr3:162356400-162357200	Weak transcription	Dnd41	blood
41	chr3:162357200-162357400	Genic enhancers	Dnd41	blood
42	chr3:162357400-162358200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
43	chr3:162357400-162358400	Transcr. at gene 5' and 3'	Dnd41	blood
44	chr3:162357600-162358400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr3:162358000-162358400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
46	chr3:162358400-162358600	Flanking Active TSS	Dnd41	blood
47	chr3:162358600-162359000	Active TSS	Dnd41	blood
48	chr3:162359000-162359400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr3:162359000-162359600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr3:162359000-162360200	Flanking Active TSS	Dnd41	blood

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