Variant report

Variant	nsv829778
Chromosome Location	chr3:162565661-162732355
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:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:162622047..162623612-chr3:162639605..162642211,2	K562	blood:
2	chr3:162627188..162629037-chr3:162630724..162633448,2	MCF-7	breast:
3	chr20:11421691..11422663-chr3:162694553..162695419,2	MCF-7	breast:
4	chr3:162692633..162695202-chr3:162700914..162703834,2	MCF-7	breast:
5	chr3:162622047..162623612-chr3:162639605..162642211,2	K562	blood:
6	chr3:162627188..162629037-chr3:162630724..162633448,2	MCF-7	breast:
7	chr3:162695238..162696118-chr5:168564460..168564967,2	MCF-7	breast:
8	chr3:162730866..162732605-chr3:162732763..162734314,2	MCF-7	breast:
9	chr3:162692633..162695202-chr3:162700914..162703834,2	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: 2943 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:2943 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566870949	chr3:162570866-162570867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564095579	chr3:162570894-162570895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs111936309	chr3:162570896-162570897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114276259	chr3:162570940-162570941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150864509	chr3:162571003-162571004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs9837507	chr3:162571024-162571025	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs13068477	chr3:162571036-162571037	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs549551639	chr3:162571241-162571242	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190885308	chr3:162571263-162571264	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532033563	chr3:162571266-162571267	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556300599	chr3:162571273-162571274	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138245485	chr3:162571305-162571306	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571592270	chr3:162571336-162571337	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs71154421	chr3:162571491-162571492	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs66835703	chr3:162571492-162571493	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs13092421	chr3:162571542-162571543	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs9856172	chr3:162571581-162571582	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547882612	chr3:162571636-162571637	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs183203429	chr3:162571714-162571715	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs567608526	chr3:162571749-162571750	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs149616434	chr3:162571832-162571833	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs555136886	chr3:162571857-162571858	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs13074527	chr3:162571872-162571873	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs73015795	chr3:162571885-162571886	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs188138565	chr3:162571899-162571900	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs193144695	chr3:162571963-162571964	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs13076128	chr3:162572837-162572838	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs563057428	chr3:162572853-162572854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563950314	chr3:162572947-162572948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576068355	chr3:162573048-162573049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545703806	chr3:162573073-162573074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565402749	chr3:162573103-162573104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527692391	chr3:162573107-162573108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547474117	chr3:162573222-162573223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373744651	chr3:162573259-162573260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182887237	chr3:162573293-162573294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548796460	chr3:162573294-162573295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568733445	chr3:162573306-162573307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537615511	chr3:162573331-162573332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187575009	chr3:162573334-162573335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192432735	chr3:162573399-162573400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377086334	chr3:162573427-162573428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372409541	chr3:162573428-162573429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559148910	chr3:162573431-162573432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62396470	chr3:162573432-162573433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62396471	chr3:162573434-162573435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71154423	chr3:162573450-162573451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543188529	chr3:162573463-162573464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9829064	chr3:162573470-162573471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35991687	chr3:162573471-162573472	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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162570800-162571600	Enhancers	Dnd41	blood
2	chr3:162571200-162572000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
3	chr3:162572800-162575200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr3:162582600-162584000	Enhancers	Dnd41	blood
5	chr3:162583400-162583800	Active TSS	Osteobl	bone
6	chr3:162583400-162584200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr3:162584200-162584600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:162584600-162585400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr3:162584600-162585600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr3:162596800-162597400	Enhancers	Dnd41	blood
11	chr3:162600400-162601000	Enhancers	Colon Smooth Muscle	Colon
12	chr3:162600800-162601200	Enhancers	Dnd41	blood
13	chr3:162601000-162603800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:162608800-162610400	ZNF genes & repeats	Dnd41	blood
15	chr3:162609000-162611200	Weak transcription	Right Atrium	heart
16	chr3:162610200-162610800	Enhancers	A549	lung
17	chr3:162630200-162634000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr3:162634000-162634400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
19	chr3:162634400-162662200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr3:162636200-162653200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr3:162646800-162647200	Enhancers	Fetal Lung	lung
22	chr3:162647200-162647600	Weak transcription	Fetal Lung	lung
23	chr3:162647600-162648400	Enhancers	Fetal Lung	lung
24	chr3:162648200-162648400	Enhancers	Aorta	Aorta
25	chr3:162648400-162650400	Weak transcription	Fetal Lung	lung
26	chr3:162648400-162662400	Weak transcription	Aorta	Aorta
27	chr3:162650400-162651200	Enhancers	Fetal Lung	lung
28	chr3:162651200-162655400	Weak transcription	Fetal Lung	lung
29	chr3:162653200-162654400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr3:162653800-162655000	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr3:162654000-162655800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr3:162654200-162654800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:162654200-162655400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr3:162654400-162654800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr3:162654400-162665200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr3:162654600-162654800	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr3:162654800-162655400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr3:162654800-162655800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr3:162655400-162655600	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr3:162655400-162656000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr3:162655400-162656200	Enhancers	Fetal Lung	lung
42	chr3:162656000-162656200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:162656000-162656200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr3:162661600-162662000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr3:162662000-162663200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr3:162662200-162663600	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr3:162662400-162662800	ZNF genes & repeats	Aorta	Aorta
48	chr3:162662400-162663200	Enhancers	Placenta Amnion	Placenta Amnion
49	chr3:162662800-162664600	Weak transcription	Aorta	Aorta
50	chr3:162663600-162665400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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