Variant report

Variant	nsv592438
Chromosome Location	chr3:163904370-163930675
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:36759743..36761957-chr3:163916939..163919179,2	K562	blood:
2	chr3:163919977..163922257-chr3:163923536..163925910,2	MCF-7	breast:
3	chr3:163919977..163922257-chr3:163923536..163925910,2	MCF-7	breast:
4	chr3:163916797..163919508-chr3:163924219..163927520,3	MCF-7	breast:
5	chr3:163916797..163919508-chr3:163924219..163927520,3	MCF-7	breast:

Extended variants
information (count: 1025 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1025 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs788895	chr3:163904370-163904371	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs375690478	chr3:163904442-163904443	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142171342	chr3:163904477-163904478	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574044055	chr3:163904499-163904500	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536367545	chr3:163904504-163904505	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556746509	chr3:163904505-163904506	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576717237	chr3:163904537-163904538	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186757735	chr3:163904538-163904539	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6773611	chr3:163904602-163904603	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs571928065	chr3:163904634-163904635	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs80012836	chr3:163904667-163904668	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560740009	chr3:163904734-163904735	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192259698	chr3:163904736-163904737	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555231575	chr3:163904770-163904771	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549614904	chr3:163904796-163904797	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563103571	chr3:163904881-163904882	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10433461	chr3:163904885-163904886	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144412152	chr3:163904889-163904890	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs202156482	chr3:163904898-163904899	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532214879	chr3:163904915-163904916	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377710845	chr3:163904940-163904941	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552049760	chr3:163904969-163904970	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540941859	chr3:163905024-163905025	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183446269	chr3:163905074-163905075	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144005026	chr3:163905082-163905083	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs710859	chr3:163905119-163905120	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs532752708	chr3:163905133-163905134	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35672574	chr3:163905136-163905137	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544735051	chr3:163905170-163905171	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187790668	chr3:163905196-163905197	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567554390	chr3:163905250-163905251	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536708047	chr3:163905259-163905260	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556732512	chr3:163905343-163905344	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs193163839	chr3:163905393-163905394	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539266992	chr3:163905431-163905432	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375396043	chr3:163905437-163905438	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559280384	chr3:163905439-163905440	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371217020	chr3:163905521-163905522	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572666607	chr3:163905542-163905543	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200359885	chr3:163905544-163905545	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35098537	chr3:163905545-163905546	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71156834	chr3:163905556-163905557	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373578555	chr3:163905557-163905558	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200415302	chr3:163905559-163905560	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201236929	chr3:163905560-163905561	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372806165	chr3:163905564-163905565	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201624965	chr3:163905565-163905566	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376205255	chr3:163905569-163905570	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184400429	chr3:163905570-163905571	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs117362460	chr3:163905607-163905608	Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Bladder cancer	21909424	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163904200-163912800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:163911000-163911600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:163912400-163912800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr3:163912800-163913000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:163912800-163918400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr3:163913000-163914000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:163914000-163914600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:163914600-163915800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:163915800-163916400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:163916400-163917200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:163917200-163918000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:163918000-163918600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:163918200-163918600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr3:163918400-163918600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr3:163918600-163919400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:163919400-163925600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:163925600-163926000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:163925600-163926600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:163925800-163927800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr3:163926200-163927400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:163926400-163926800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr3:163926600-163927400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr3:163926600-163927600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr3:163926600-163927600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr3:163926600-163927800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:163926800-163927200	Enhancers	Fetal Brain Male	brain
27	chr3:163926800-163927800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr3:163927800-163929200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:163929200-163931000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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