Variant report

Variant	nsv1000473
Chromosome Location	chr3:162545704-162673567
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:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:162548004..162549875-chr3:162551679..162554489,2	MCF-7	breast:
2	chr3:162548004..162549875-chr3:162551679..162554489,2	MCF-7	breast:
3	chr3:162627188..162629037-chr3:162630724..162633448,2	MCF-7	breast:
4	chr3:162622047..162623612-chr3:162639605..162642211,2	K562	blood:
5	chr16:87583726..87584390-chr3:162551047..162551567,2	MCF-7	breast:
6	chr3:162554556..162557102-chr3:162558855..162561328,2	K562	blood:
7	chr3:162554556..162557102-chr3:162558855..162561328,2	K562	blood:
8	chr3:162622047..162623612-chr3:162639605..162642211,2	K562	blood:
9	chr3:162524861..162526931-chr3:162547103..162549053,2	MCF-7	breast:
10	chr16:87583669..87584291-chr3:162551047..162551567,2	MCF-7	breast:
11	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: 1936 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1936 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147242033	chr3:162547020-162547021	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs576265054	chr3:162547021-162547022	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs562486139	chr3:162547033-162547034	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs2193271	chr3:162547042-162547043	Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs34410806	chr3:162547056-162547057	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs561551469	chr3:162547065-162547066	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs139712931	chr3:162547139-162547140	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs13073727	chr3:162547166-162547167	Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs558770282	chr3:162547193-162547194	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs184752117	chr3:162547225-162547226	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs116019601	chr3:162547321-162547322	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs556517255	chr3:162547466-162547467	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs541161681	chr3:162547560-162547561	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs540391243	chr3:162559762-162559763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552123552	chr3:162559799-162559800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571932860	chr3:162559805-162559806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534190845	chr3:162559810-162559811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138095004	chr3:162559812-162559813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112158942	chr3:162559864-162559865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536737528	chr3:162559868-162559869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112083520	chr3:162559900-162559901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555302820	chr3:162559982-162559983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144666173	chr3:162559989-162559990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537617291	chr3:162560043-162560044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9755571	chr3:162560045-162560046	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs560587654	chr3:162560084-162560085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111463709	chr3:162560115-162560116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200751160	chr3:162560126-162560127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185661853	chr3:162560316-162560317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573689209	chr3:162560338-162560339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542684918	chr3:162560339-162560340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562540774	chr3:162560340-162560341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146092826	chr3:162560400-162560401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188223931	chr3:162560404-162560405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551962143	chr3:162560515-162560516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565578671	chr3:162560542-162560543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2080523	chr3:162560589-162560590	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs547511506	chr3:162560928-162560929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567632455	chr3:162560944-162560945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536225708	chr3:162560945-162560946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371598794	chr3:162560959-162560960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140108784	chr3:162560995-162560996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537654100	chr3:162561051-162561052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9290148	chr3:162561061-162561062	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs555660580	chr3:162561102-162561103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs202213173	chr3:162561126-162561127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13083125	chr3:162561128-162561129	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs9682914	chr3:162561225-162561226	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs9290149	chr3:162561292-162561293	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs577920391	chr3:162561305-162561306	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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162547000-162547600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
2	chr3:162559600-162562800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:162563200-162564400	Enhancers	Dnd41	blood
4	chr3:162563400-162563800	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr3:162563400-162564000	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr3:162564400-162564600	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:162570800-162571600	Enhancers	Dnd41	blood
8	chr3:162571200-162572000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
9	chr3:162572800-162575200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr3:162582600-162584000	Enhancers	Dnd41	blood
11	chr3:162583400-162583800	Active TSS	Osteobl	bone
12	chr3:162583400-162584200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:162584200-162584600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr3:162584600-162585400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr3:162584600-162585600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr3:162596800-162597400	Enhancers	Dnd41	blood
17	chr3:162600400-162601000	Enhancers	Colon Smooth Muscle	Colon
18	chr3:162600800-162601200	Enhancers	Dnd41	blood
19	chr3:162601000-162603800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:162608800-162610400	ZNF genes & repeats	Dnd41	blood
21	chr3:162609000-162611200	Weak transcription	Right Atrium	heart
22	chr3:162610200-162610800	Enhancers	A549	lung
23	chr3:162630200-162634000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr3:162634000-162634400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
25	chr3:162634400-162662200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr3:162636200-162653200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr3:162646800-162647200	Enhancers	Fetal Lung	lung
28	chr3:162647200-162647600	Weak transcription	Fetal Lung	lung
29	chr3:162647600-162648400	Enhancers	Fetal Lung	lung
30	chr3:162648200-162648400	Enhancers	Aorta	Aorta
31	chr3:162648400-162650400	Weak transcription	Fetal Lung	lung
32	chr3:162648400-162662400	Weak transcription	Aorta	Aorta
33	chr3:162650400-162651200	Enhancers	Fetal Lung	lung
34	chr3:162651200-162655400	Weak transcription	Fetal Lung	lung
35	chr3:162653200-162654400	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr3:162653800-162655000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr3:162654000-162655800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr3:162654200-162654800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr3:162654200-162655400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr3:162654400-162654800	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr3:162654400-162665200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr3:162654600-162654800	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr3:162654800-162655400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr3:162654800-162655800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr3:162655400-162655600	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr3:162655400-162656000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr3:162655400-162656200	Enhancers	Fetal Lung	lung
48	chr3:162656000-162656200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:162656000-162656200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr3:162661600-162662000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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