Variant report

Variant	nsv592214
Chromosome Location	chr3:162504321-162721962
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:17)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:11421691..11422663-chr3:162694553..162695419,2	MCF-7	breast:
2	chr3:162627188..162629037-chr3:162630724..162633448,2	MCF-7	breast:
3	chr3:162524861..162526931-chr3:162547103..162549053,2	MCF-7	breast:
4	chr3:162118223..162119105-chr3:162517137..162517997,2	MCF-7	breast:
5	chr3:162627188..162629037-chr3:162630724..162633448,2	MCF-7	breast:
6	chr3:162548004..162549875-chr3:162551679..162554489,2	MCF-7	breast:
7	chr3:162622047..162623612-chr3:162639605..162642211,2	K562	blood:
8	chr3:162622047..162623612-chr3:162639605..162642211,2	K562	blood:
9	chr3:162554556..162557102-chr3:162558855..162561328,2	K562	blood:
10	chr3:162695238..162696118-chr5:168564460..168564967,2	MCF-7	breast:
11	chr16:87583726..87584390-chr3:162551047..162551567,2	MCF-7	breast:
12	chr3:162524861..162526931-chr3:162547103..162549053,2	MCF-7	breast:
13	chr3:162692633..162695202-chr3:162700914..162703834,2	MCF-7	breast:
14	chr3:162554556..162557102-chr3:162558855..162561328,2	K562	blood:
15	chr3:162548004..162549875-chr3:162551679..162554489,2	MCF-7	breast:
16	chr3:162692633..162695202-chr3:162700914..162703834,2	MCF-7	breast:
17	chr16:87583669..87584291-chr3:162551047..162551567,2	MCF-7	breast:

(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: 3573 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:3573 , 50 per page) page: 1 2 3 4 5 6 7 ... 72

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9819222	chr3:162504321-162504322	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550244212	chr3:162504338-162504339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562545415	chr3:162504403-162504404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531492289	chr3:162504404-162504405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78977903	chr3:162504477-162504478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571236470	chr3:162504485-162504486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185974859	chr3:162504520-162504521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566781735	chr3:162504543-162504544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150383434	chr3:162504586-162504587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567252067	chr3:162504636-162504637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs17710556	chr3:162504667-162504668	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs567772661	chr3:162504705-162504706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549301347	chr3:162504723-162504724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569133308	chr3:162504774-162504775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138714417	chr3:162504819-162504820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572809450	chr3:162505010-162505011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149363333	chr3:162505013-162505014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561311628	chr3:162505081-162505082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574727012	chr3:162505089-162505090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190891596	chr3:162505092-162505093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183219006	chr3:162505099-162505100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532478846	chr3:162505117-162505118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs206287	chr3:162505123-162505124	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs57376172	chr3:162505126-162505127	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs79440300	chr3:162505148-162505149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143685530	chr3:162505156-162505157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567162253	chr3:162505186-162505187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138402814	chr3:162505216-162505217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531375934	chr3:162505258-162505259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549635118	chr3:162505263-162505264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569757498	chr3:162505286-162505287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143960405	chr3:162505298-162505299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559233214	chr3:162505355-162505356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188142714	chr3:162505370-162505371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147305685	chr3:162505416-162505417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192152936	chr3:162505431-162505432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9824287	chr3:162505435-162505436	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs139276099	chr3:162505486-162505487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375504674	chr3:162505504-162505505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs206286	chr3:162505511-162505512	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs201162337	chr3:162505556-162505557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144465407	chr3:162505557-162505558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368384071	chr3:162505558-162505559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34144640	chr3:162505561-162505562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577309433	chr3:162505625-162505626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141568598	chr3:162505655-162505656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150915267	chr3:162505669-162505670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574793664	chr3:162505723-162505724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76049046	chr3:162505732-162505733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540944805	chr3:162505748-162505749	Weak 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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162503400-162519400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:162509200-162512000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:162509800-162511000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr3:162510000-162511000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr3:162511400-162512000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr3:162511600-162512000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr3:162516600-162517800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr3:162517800-162520400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr3:162519400-162520800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr3:162519800-162520800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:162520400-162520800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr3:162520400-162520800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr3:162520800-162521800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:162522000-162522200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:162532800-162533400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr3:162542600-162543000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:162547000-162547600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
18	chr3:162559600-162562800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr3:162563200-162564400	Enhancers	Dnd41	blood
20	chr3:162563400-162563800	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr3:162563400-162564000	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr3:162564400-162564600	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr3:162570800-162571600	Enhancers	Dnd41	blood
24	chr3:162571200-162572000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
25	chr3:162572800-162575200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr3:162582600-162584000	Enhancers	Dnd41	blood
27	chr3:162583400-162583800	Active TSS	Osteobl	bone
28	chr3:162583400-162584200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:162584200-162584600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr3:162584600-162585400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr3:162584600-162585600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr3:162596800-162597400	Enhancers	Dnd41	blood
33	chr3:162600400-162601000	Enhancers	Colon Smooth Muscle	Colon
34	chr3:162600800-162601200	Enhancers	Dnd41	blood
35	chr3:162601000-162603800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr3:162608800-162610400	ZNF genes & repeats	Dnd41	blood
37	chr3:162609000-162611200	Weak transcription	Right Atrium	heart
38	chr3:162610200-162610800	Enhancers	A549	lung
39	chr3:162630200-162634000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr3:162634000-162634400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
41	chr3:162634400-162662200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr3:162636200-162653200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr3:162646800-162647200	Enhancers	Fetal Lung	lung
44	chr3:162647200-162647600	Weak transcription	Fetal Lung	lung
45	chr3:162647600-162648400	Enhancers	Fetal Lung	lung
46	chr3:162648200-162648400	Enhancers	Aorta	Aorta
47	chr3:162648400-162650400	Weak transcription	Fetal Lung	lung
48	chr3:162648400-162662400	Weak transcription	Aorta	Aorta
49	chr3:162650400-162651200	Enhancers	Fetal Lung	lung
50	chr3:162651200-162655400	Weak transcription	Fetal Lung	lung

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