Variant report

Variant	esv3350422
Chromosome Location	chr3:163858299-163883405
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1110 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1110 , 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	rs73172621	chr3:163858319-163858320	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535755471	chr3:163858326-163858327	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377508860	chr3:163858334-163858335	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565697685	chr3:163858383-163858384	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569780009	chr3:163858412-163858413	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553478634	chr3:163858432-163858433	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370566006	chr3:163858470-163858471	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528935657	chr3:163858471-163858472	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1349607	chr3:163858483-163858484	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs556327067	chr3:163858494-163858495	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115862629	chr3:163858503-163858504	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557864473	chr3:163858518-163858519	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75264778	chr3:163858521-163858522	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565505440	chr3:163858547-163858548	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1349285	chr3:163858560-163858561	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs116782773	chr3:163858581-163858582	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192642704	chr3:163858617-163858618	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557663652	chr3:163858620-163858621	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144577203	chr3:163858624-163858625	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549261430	chr3:163858643-163858644	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563141110	chr3:163858670-163858671	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531899569	chr3:163858704-163858705	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528015556	chr3:163858878-163858879	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572057475	chr3:163858917-163858918	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10804812	chr3:163858926-163858927	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs62280776	chr3:163858937-163858938	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs367756795	chr3:163858965-163858966	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547004853	chr3:163858985-163858986	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200082607	chr3:163858993-163858994	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139422200	chr3:163859021-163859022	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183138415	chr3:163859080-163859081	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556076303	chr3:163859106-163859107	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372696027	chr3:163859111-163859112	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538915223	chr3:163859112-163859113	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143550585	chr3:163859220-163859221	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572389249	chr3:163859250-163859251	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540594534	chr3:163859256-163859257	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188251985	chr3:163859319-163859320	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574646117	chr3:163859343-163859344	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73172622	chr3:163859344-163859345	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs146309156	chr3:163859349-163859350	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562927577	chr3:163859388-163859389	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192169711	chr3:163859389-163859390	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545220089	chr3:163859397-163859398	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565205142	chr3:163859473-163859474	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527988126	chr3:163859476-163859477	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184381454	chr3:163859480-163859481	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139597311	chr3:163859482-163859483	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529737316	chr3:163859563-163859564	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142888637	chr3:163859566-163859567	Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163854600-163862000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:163860000-163861400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:163862000-163870200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:163863200-163866400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr3:163865800-163867600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
6	chr3:163868200-163870200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:163870200-163874600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:163873400-163873800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr3:163874600-163879600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:163875800-163876200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:163879600-163898800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:163881400-163881600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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