Variant report

Variant	nsv592249
Chromosome Location	chr3:162512683-162721962
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	chr3:162627188..162629037-chr3:162630724..162633448,2	MCF-7	breast:
2	chr3:162692633..162695202-chr3:162700914..162703834,2	MCF-7	breast:
3	chr20:11421691..11422663-chr3:162694553..162695419,2	MCF-7	breast:
4	chr3:162622047..162623612-chr3:162639605..162642211,2	K562	blood:
5	chr3:162524861..162526931-chr3:162547103..162549053,2	MCF-7	breast:
6	chr3:162548004..162549875-chr3:162551679..162554489,2	MCF-7	breast:
7	chr16:87583669..87584291-chr3:162551047..162551567,2	MCF-7	breast:
8	chr3:162524861..162526931-chr3:162547103..162549053,2	MCF-7	breast:
9	chr3:162554556..162557102-chr3:162558855..162561328,2	K562	blood:
10	chr3:162554556..162557102-chr3:162558855..162561328,2	K562	blood:
11	chr3:162695238..162696118-chr5:168564460..168564967,2	MCF-7	breast:
12	chr3:162692633..162695202-chr3:162700914..162703834,2	MCF-7	breast:
13	chr3:162548004..162549875-chr3:162551679..162554489,2	MCF-7	breast:
14	chr3:162118223..162119105-chr3:162517137..162517997,2	MCF-7	breast:
15	chr16:87583726..87584390-chr3:162551047..162551567,2	MCF-7	breast:
16	chr3:162622047..162623612-chr3:162639605..162642211,2	K562	blood:
17	chr3:162627188..162629037-chr3:162630724..162633448,2	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: 3278 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:3278 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12487989	chr3:162512683-162512684	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs12487950	chr3:162512708-162512709	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs13076294	chr3:162512759-162512760	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs142373213	chr3:162512773-162512774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116462185	chr3:162512817-162512818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565952613	chr3:162512848-162512849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112912294	chr3:162512865-162512866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539529819	chr3:162512872-162512873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188192631	chr3:162512964-162512965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201536704	chr3:162512972-162512973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574510351	chr3:162512986-162512987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551487976	chr3:162513114-162513115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576903272	chr3:162513118-162513119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77992500	chr3:162513180-162513181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115902203	chr3:162513194-162513195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs13081484	chr3:162513260-162513261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs13081642	chr3:162513261-162513262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576422990	chr3:162513262-162513263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs62393499	chr3:162513291-162513292	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs555282677	chr3:162513305-162513306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572349839	chr3:162513333-162513334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13061839	chr3:162513372-162513373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs13061840	chr3:162513373-162513374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191538538	chr3:162513380-162513381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531475438	chr3:162513392-162513393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13061871	chr3:162513403-162513404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs13081870	chr3:162513430-162513431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13061889	chr3:162513433-162513434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540919333	chr3:162513452-162513453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560946889	chr3:162513461-162513462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529626008	chr3:162513522-162513523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12488804	chr3:162513585-162513586	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs534634845	chr3:162513709-162513710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12488906	chr3:162513755-162513756	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs148325165	chr3:162513778-162513779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555754616	chr3:162513809-162513810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184097877	chr3:162513829-162513830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188879086	chr3:162513859-162513860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577749432	chr3:162513926-162513927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548559900	chr3:162514041-162514042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568462115	chr3:162514065-162514066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537075282	chr3:162514136-162514137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556919559	chr3:162514140-162514141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545104282	chr3:162514153-162514154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576963874	chr3:162514178-162514179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563424228	chr3:162514191-162514192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375475966	chr3:162514203-162514204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13067404	chr3:162514231-162514232	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs181885416	chr3:162514342-162514343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572101496	chr3:162514350-162514351	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:117 , 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	chr3:162516600-162517800	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr3:162517800-162520400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr3:162519400-162520800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr3:162519800-162520800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:162520400-162520800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr3:162520400-162520800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr3:162520800-162521800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:162522000-162522200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr3:162532800-162533400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr3:162542600-162543000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:162547000-162547600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
13	chr3:162559600-162562800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr3:162563200-162564400	Enhancers	Dnd41	blood
15	chr3:162563400-162563800	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr3:162563400-162564000	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr3:162564400-162564600	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr3:162570800-162571600	Enhancers	Dnd41	blood
19	chr3:162571200-162572000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
20	chr3:162572800-162575200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr3:162582600-162584000	Enhancers	Dnd41	blood
22	chr3:162583400-162583800	Active TSS	Osteobl	bone
23	chr3:162583400-162584200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr3:162584200-162584600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr3:162584600-162585400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr3:162584600-162585600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr3:162596800-162597400	Enhancers	Dnd41	blood
28	chr3:162600400-162601000	Enhancers	Colon Smooth Muscle	Colon
29	chr3:162600800-162601200	Enhancers	Dnd41	blood
30	chr3:162601000-162603800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:162608800-162610400	ZNF genes & repeats	Dnd41	blood
32	chr3:162609000-162611200	Weak transcription	Right Atrium	heart
33	chr3:162610200-162610800	Enhancers	A549	lung
34	chr3:162630200-162634000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr3:162634000-162634400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
36	chr3:162634400-162662200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr3:162636200-162653200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr3:162646800-162647200	Enhancers	Fetal Lung	lung
39	chr3:162647200-162647600	Weak transcription	Fetal Lung	lung
40	chr3:162647600-162648400	Enhancers	Fetal Lung	lung
41	chr3:162648200-162648400	Enhancers	Aorta	Aorta
42	chr3:162648400-162650400	Weak transcription	Fetal Lung	lung
43	chr3:162648400-162662400	Weak transcription	Aorta	Aorta
44	chr3:162650400-162651200	Enhancers	Fetal Lung	lung
45	chr3:162651200-162655400	Weak transcription	Fetal Lung	lung
46	chr3:162653200-162654400	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr3:162653800-162655000	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr3:162654000-162655800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr3:162654200-162654800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr3:162654200-162655400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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