Variant report

Variant	nsv822312
Chromosome Location	chr3:162488023-162497335
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:162486396..162487274-chr3:162497260..162497768,2	MCF-7	breast:
2	chr3:162494680..162495563-chr3:162760633..162761552,3	MCF-7	breast:

Extended variants
information (count: 386 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:386 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546568526	chr3:162488227-162488228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560040837	chr3:162488228-162488229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190087218	chr3:162488234-162488235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541823827	chr3:162488324-162488325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557896052	chr3:162488342-162488343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562233209	chr3:162488372-162488373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530935177	chr3:162488400-162488401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73024452	chr3:162488440-162488441	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs569553398	chr3:162488466-162488467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532170677	chr3:162488470-162488471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149796827	chr3:162488497-162488498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565793760	chr3:162488513-162488514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534637018	chr3:162488514-162488515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554299899	chr3:162488519-162488520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568033827	chr3:162488541-162488542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182735671	chr3:162488581-162488582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537185742	chr3:162488618-162488619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9290138	chr3:162488627-162488628	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs577518278	chr3:162488628-162488629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376479088	chr3:162488667-162488668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546378630	chr3:162488675-162488676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34680076	chr3:162488700-162488701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs114289276	chr3:162488710-162488711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538508879	chr3:162488715-162488716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542486239	chr3:162488751-162488752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556930705	chr3:162488792-162488793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575583272	chr3:162488883-162488884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544344447	chr3:162488884-162488885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564191877	chr3:162488905-162488906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532182790	chr3:162488934-162488935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551927195	chr3:162488936-162488937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574173421	chr3:162488944-162488945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574865090	chr3:162489007-162489008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559479798	chr3:162489023-162489024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111830049	chr3:162489078-162489079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548457467	chr3:162489085-162489086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554231619	chr3:162489089-162489090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536999750	chr3:162489119-162489120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550705071	chr3:162489152-162489153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570528489	chr3:162489160-162489161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540059225	chr3:162489176-162489177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140639682	chr3:162489193-162489194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573368878	chr3:162489205-162489206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571247267	chr3:162489274-162489275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535812178	chr3:162489280-162489281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541490169	chr3:162489317-162489318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556019781	chr3:162489329-162489330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575235298	chr3:162489340-162489341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199917637	chr3:162489379-162489380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564254209	chr3:162489427-162489428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Chordoma	21215367	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162481600-162492200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:162484400-162490200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr3:162485200-162492200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:162487000-162489200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:162487600-162489000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:162489000-162490000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr3:162490000-162492400	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr3:162490200-162491400	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr3:162491200-162493400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr3:162491400-162493200	Genic enhancers	HUES6 Cell Line	embryonic stem cell
11	chr3:162491400-162493400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr3:162491400-162493800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr3:162491600-162493200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr3:162492000-162493200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr3:162492000-162493400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr3:162492000-162494400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr3:162492200-162492800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr3:162492200-162492800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:162492400-162493000	Enhancers	Dnd41	blood
20	chr3:162492400-162493200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr3:162492800-162493400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:162493000-162494600	Weak transcription	Dnd41	blood
23	chr3:162493200-162494400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr3:162493200-162494400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr3:162493800-162495000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr3:162494400-162494600	Genic enhancers	HUES6 Cell Line	embryonic stem cell
27	chr3:162494400-162495400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
28	chr3:162494600-162495200	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr3:162494600-162496000	Enhancers	Dnd41	blood
30	chr3:162495200-162495400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr3:162495200-162500200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr3:162495400-162497800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr3:162496000-162498000	Weak transcription	Dnd41	blood

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