Variant report

Variant	esv1792020
Chromosome Location	chr3:164102274-164125798
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 507 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:507 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs58626716	chr3:164103830-164103831	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs374801339	chr3:164103835-164103836	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs147257013	chr3:164103855-164103856	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs199930581	chr3:164103856-164103857	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs398052413	chr3:164103857-164103858	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs398106694	chr3:164103859-164103860	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs71952071	chr3:164103867-164103868	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs35231377	chr3:164103877-164103878	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs71156850	chr3:164103879-164103880	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs574942620	chr3:164103912-164103913	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs35493318	chr3:164103921-164103922	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs115731726	chr3:164103937-164103938	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs183516469	chr3:164103976-164103977	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs532850469	chr3:164103984-164103985	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs540442142	chr3:164104008-164104009	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560041095	chr3:164104028-164104029	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145974768	chr3:164104076-164104077	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549338005	chr3:164104098-164104099	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376354662	chr3:164104118-164104119	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569168850	chr3:164104132-164104133	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553935707	chr3:164104184-164104185	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530956401	chr3:164104196-164104197	Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188507587	chr3:164104259-164104260	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139904797	chr3:164104263-164104264	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191970971	chr3:164104292-164104293	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs28421950	chr3:164104298-164104299	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs9876091	chr3:164104369-164104370	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs183347559	chr3:164104398-164104399	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186938128	chr3:164104399-164104400	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555670129	chr3:164104401-164104402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111800757	chr3:164104403-164104404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144594999	chr3:164104404-164104405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs17493928	chr3:164104447-164104448	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs202180888	chr3:164104486-164104487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547189211	chr3:164104488-164104489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34944668	chr3:164104496-164104497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs397874072	chr3:164104497-164104498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201366648	chr3:164104498-164104499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191364859	chr3:164104502-164104503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528833512	chr3:164104533-164104534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374471419	chr3:164104545-164104546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148493230	chr3:164104607-164104608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539906985	chr3:164104619-164104620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142691011	chr3:164104661-164104662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370197188	chr3:164104680-164104681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373371357	chr3:164104681-164104682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529148402	chr3:164104689-164104690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs397874007	chr3:164104690-164104691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529535842	chr3:164104704-164104705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554500951	chr3:164104707-164104708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
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
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
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD
Alcoholism	21790672	CNVD
Schizophrenia	20967226	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute myeloid leukemia	19651600	CNVD
Incontinentia Pigmenti	22033527	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:164103800-164104200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:164104000-164104400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:164104000-164107600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:164104200-164104400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:164104400-164104600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:164104600-164105400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:164105400-164106000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:164107600-164107800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr3:164109000-164109800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:164110800-164111200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr3:164110800-164111200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr3:164111000-164111200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr3:164111200-164111400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr3:164111200-164112800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr3:164111400-164112600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr3:164112600-164113000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr3:164112800-164113000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr3:164118800-164119400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:164118800-164119400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr3:164120600-164123000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr3:164122000-164122400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr3:164122000-164122400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr3:164124000-164124200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr3:164124200-164125400	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr3:164124200-164126000	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr3:164125200-164126200	Enhancers	Colon Smooth Muscle	Colon

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