Variant report

Variant	nsv4093
Chromosome Location	chr3:162479653-162654587
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:87583726..87584390-chr3:162551047..162551567,2	MCF-7	breast:
2	chr3:162486396..162487274-chr3:162497260..162497768,2	MCF-7	breast:
3	chr3:162486396..162487274-chr3:162497260..162497768,2	MCF-7	breast:
4	chr3:162622047..162623612-chr3:162639605..162642211,2	K562	blood:
5	chr3:162554556..162557102-chr3:162558855..162561328,2	K562	blood:
6	chr3:162627188..162629037-chr3:162630724..162633448,2	MCF-7	breast:
7	chr3:162524861..162526931-chr3:162547103..162549053,2	MCF-7	breast:
8	chr16:87583669..87584291-chr3:162551047..162551567,2	MCF-7	breast:
9	chr3:162475543..162478495-chr3:162480272..162482533,2	MCF-7	breast:
10	chr3:162471864..162474454-chr3:162482441..162485010,2	MCF-7	breast:
11	chr3:162494680..162495563-chr3:162760633..162761552,3	MCF-7	breast:
12	chr3:162627188..162629037-chr3:162630724..162633448,2	MCF-7	breast:
13	chr3:162548004..162549875-chr3:162551679..162554489,2	MCF-7	breast:
14	chr3:162548004..162549875-chr3:162551679..162554489,2	MCF-7	breast:
15	chr3:162118223..162119105-chr3:162517137..162517997,2	MCF-7	breast:
16	chr3:162622047..162623612-chr3:162639605..162642211,2	K562	blood:
17	chr3:162524861..162526931-chr3:162547103..162549053,2	MCF-7	breast:
18	chr3:162554556..162557102-chr3:162558855..162561328,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OTOL1-2	chr3:162631870-162632022	NONHSAT093026

No data

Extended variants
information (count: 2959 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:2959 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147870681	chr3:162479676-162479677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573855677	chr3:162479692-162479693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542601701	chr3:162479701-162479702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544323893	chr3:162479725-162479726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs367590491	chr3:162479729-162479730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190701146	chr3:162479735-162479736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9874290	chr3:162479753-162479754	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs141578223	chr3:162479801-162479802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62393491	chr3:162479822-162479823	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs568854711	chr3:162479839-162479840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143702655	chr3:162479842-162479843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567549221	chr3:162479855-162479856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368135926	chr3:162479862-162479863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530315143	chr3:162479920-162479921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184082167	chr3:162479995-162479996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78081908	chr3:162480069-162480070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538660627	chr3:162480088-162480089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375935518	chr3:162480128-162480129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558874184	chr3:162480139-162480140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372346464	chr3:162480165-162480166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566062616	chr3:162480174-162480175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543978233	chr3:162480199-162480200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563877975	chr3:162480212-162480213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535147972	chr3:162480215-162480216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35261604	chr3:162480262-162480263	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs540176759	chr3:162480264-162480265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573921748	chr3:162480278-162480279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187473911	chr3:162480282-162480283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542899247	chr3:162480291-162480292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148125540	chr3:162480304-162480305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73877805	chr3:162480309-162480310	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs141017654	chr3:162480345-162480346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564573888	chr3:162480352-162480353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150249812	chr3:162480370-162480371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540776726	chr3:162480415-162480416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560642483	chr3:162480418-162480419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530244104	chr3:162480434-162480435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550304621	chr3:162480439-162480440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570265448	chr3:162480498-162480499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564382869	chr3:162480499-162480500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191105625	chr3:162480533-162480534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552880920	chr3:162480553-162480554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs372223068	chr3:162480560-162480561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs13095495	chr3:162480597-162480598	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs535006735	chr3:162480620-162480621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs533191567	chr3:162480662-162480663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568494664	chr3:162480687-162480688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs13095861	chr3:162480697-162480698	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs182895544	chr3:162480698-162480699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565137457	chr3:162480754-162480755	Enhancers	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
Chordoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162470800-162480400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr3:162471400-162480400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:162480200-162481000	Enhancers	Dnd41	blood
4	chr3:162480400-162481200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr3:162480400-162482000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr3:162481000-162483200	Weak transcription	Dnd41	blood
7	chr3:162481200-162482400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:162481200-162483400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr3:162481400-162481600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr3:162481600-162492200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr3:162481800-162482400	Enhancers	Fetal Intestine Large	intestine
12	chr3:162482200-162482800	Enhancers	NHDF-Ad	bronchial
13	chr3:162482400-162482800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:162482400-162483400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:162482800-162487000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:162483200-162484400	ZNF genes & repeats	Dnd41	blood
17	chr3:162483400-162484000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr3:162483400-162484200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:162483400-162484400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
20	chr3:162483400-162485200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:162483600-162484200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr3:162484200-162484600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr3:162484400-162490200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr3:162485000-162485200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr3:162485200-162487000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr3:162485200-162492200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:162487000-162487600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr3:162487000-162489200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr3:162487600-162489000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr3:162489000-162490000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr3:162490000-162492400	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr3:162490200-162491400	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr3:162491200-162493400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr3:162491400-162493200	Genic enhancers	HUES6 Cell Line	embryonic stem cell
35	chr3:162491400-162493400	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr3:162491400-162493800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr3:162491600-162493200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr3:162492000-162493200	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr3:162492000-162493400	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr3:162492000-162494400	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr3:162492200-162492800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr3:162492200-162492800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr3:162492400-162493000	Enhancers	Dnd41	blood
44	chr3:162492400-162493200	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr3:162492800-162493400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr3:162493000-162494600	Weak transcription	Dnd41	blood
47	chr3:162493200-162494400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr3:162493200-162494400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr3:162493800-162495000	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr3:162494400-162494600	Genic enhancers	HUES6 Cell Line	embryonic stem cell

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