Variant report

Variant	nsv592443
Chromosome Location	chr3:164079434-164126802
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:13)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:164032173..164034796-chr3:164095339..164097722,2	K562	blood:
2	chr3:164097711..164098324-chr3:164241488..164242482,3	MCF-7	breast:
3	chr3:164097647..164098678-chr3:164154502..164155534,10	MCF-7	breast:
4	chr3:164097647..164098715-chr3:164154502..164155534,19	MCF-7	breast:
5	chr3:164097711..164099012-chr3:164352332..164353250,14	MCF-7	breast:
6	chr3:163995585..163997750-chr3:164093655..164096327,2	K562	blood:
7	chr3:164097711..164098324-chr3:164241488..164242187,2	MCF-7	breast:
8	chr3:164097731..164098551-chr3:164154660..164155422,4	MCF-7	breast:
9	chr3:164097659..164099012-chr3:164352282..164353331,34	MCF-7	breast:
10	chr3:164093244..164094225-chr3:164903325..164904113,2	MCF-7	breast:
11	chr3:164097708..164098703-chr3:164352353..164353241,9	MCF-7	breast:
12	chr3:164097709..164098424-chr3:164241494..164242452,3	MCF-7	breast:
13	chr3:164072695..164075481-chr3:164078791..164081086,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OTOL1-4	chr3:164088402-164088464	XLOC_002899

No data

Extended variants
information (count: 942 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:942 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368768475	chr3:164081289-164081290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376016384	chr3:164081314-164081315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149374499	chr3:164081320-164081321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10575333	chr3:164081322-164081323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs9847721	chr3:164081323-164081324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200307740	chr3:164081326-164081327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73157128	chr3:164081411-164081412	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs141999208	chr3:164081465-164081466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79374939	chr3:164081500-164081501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146336915	chr3:164081504-164081505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139664460	chr3:164081585-164081586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190140670	chr3:164081642-164081643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35831035	chr3:164081682-164081683	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs528402745	chr3:164081768-164081769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs74551529	chr3:164081807-164081808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560949881	chr3:164081822-164081823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373591841	chr3:164081875-164081876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529996019	chr3:164081899-164081900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570190233	chr3:164081929-164081930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs115354398	chr3:164081959-164081960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182366219	chr3:164081970-164081971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188552557	chr3:164082022-164082023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141961058	chr3:164082058-164082059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577581949	chr3:164082059-164082060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538268766	chr3:164082064-164082065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566104296	chr3:164082091-164082092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73018830	chr3:164082096-164082097	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs555252877	chr3:164082145-164082146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150688999	chr3:164082154-164082155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140029984	chr3:164082179-164082180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76432966	chr3:164082217-164082218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576906913	chr3:164082278-164082279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184033456	chr3:164082297-164082298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553155384	chr3:164082334-164082335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73157129	chr3:164082344-164082345	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs541730622	chr3:164082351-164082352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561687973	chr3:164082356-164082357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189150942	chr3:164082366-164082367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543438422	chr3:164082405-164082406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs193037786	chr3:164082406-164082407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532652630	chr3:164082423-164082424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114090241	chr3:164082444-164082445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs115400799	chr3:164082462-164082463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528652652	chr3:164082507-164082508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560585888	chr3:164082508-164082509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs572164507	chr3:164082544-164082545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568801154	chr3:164082550-164082551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs202056791	chr3:164082565-164082566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs183838931	chr3:164082613-164082614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550568573	chr3:164082658-164082659	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
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
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
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD
Alcoholism	21790672	CNVD
Schizophrenia	20967226	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute myeloid leukemia	19651600	CNVD
Autism	19287141	CNVD
Incontinentia Pigmenti	22033527	CNVD
Rett syndrome	21593744	CNVD
Urothelial carcinoma	21177765	CNVD
Autism	20531469	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Recurrent pregnancy loss	19789632	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:164081200-164084000	Enhancers	Fetal Heart	heart
2	chr3:164082000-164082400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:164082800-164083400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr3:164084000-164088600	Weak transcription	Fetal Heart	heart
5	chr3:164088600-164089800	Enhancers	Fetal Heart	heart
6	chr3:164089600-164090000	Enhancers	Fetal Brain Female	brain
7	chr3:164093000-164094000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr3:164093200-164094000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr3:164094000-164095000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:164095200-164095400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:164103800-164104200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:164104000-164104400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:164104000-164107600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr3:164104200-164104400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:164104400-164104600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:164104600-164105400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:164105400-164106000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:164107600-164107800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr3:164109000-164109800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:164110800-164111200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr3:164110800-164111200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr3:164111000-164111200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr3:164111200-164111400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr3:164111200-164112800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr3:164111400-164112600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr3:164112600-164113000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr3:164112800-164113000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr3:164118800-164119400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr3:164118800-164119400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr3:164120600-164123000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr3:164122000-164122400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr3:164122000-164122400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr3:164124000-164124200	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr3:164124200-164125400	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr3:164124200-164126000	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr3:164125200-164126200	Enhancers	Colon Smooth Muscle	Colon
37	chr3:164125800-164127600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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