Variant report

Variant	nsv471016
Chromosome Location	chr3:164088664-164156963
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:20)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:164097647..164098715-chr3:164154502..164155534,19	MCF-7	breast:
2	chr3:163995585..163997750-chr3:164093655..164096327,2	K562	blood:
3	chr3:164097731..164098551-chr3:164154660..164155422,4	MCF-7	breast:
4	chr3:164097659..164099012-chr3:164352282..164353331,34	MCF-7	breast:
5	chr3:164155004..164155575-chr3:164352325..164352831,2	MCF-7	breast:
6	chr3:164154966..164155479-chr3:164352397..164353197,2	MCF-7	breast:
7	chr3:164145149..164147604-chr3:164148897..164151396,2	MCF-7	breast:
8	chr3:164097647..164098678-chr3:164154502..164155534,10	MCF-7	breast:
9	chr3:164097711..164098324-chr3:164241488..164242187,2	MCF-7	breast:
10	chr3:164097647..164098715-chr3:164154502..164155534,19	MCF-7	breast:
11	chr3:164145149..164147604-chr3:164148897..164151396,2	MCF-7	breast:
12	chr3:164097708..164098703-chr3:164352353..164353241,9	MCF-7	breast:
13	chr3:164032173..164034796-chr3:164095339..164097722,2	K562	blood:
14	chr3:164097647..164098678-chr3:164154502..164155534,10	MCF-7	breast:
15	chr3:164093244..164094225-chr3:164903325..164904113,2	MCF-7	breast:
16	chr3:164097711..164099012-chr3:164352332..164353250,14	MCF-7	breast:
17	chr3:164097709..164098424-chr3:164241494..164242452,3	MCF-7	breast:
18	chr3:164097731..164098551-chr3:164154660..164155422,4	MCF-7	breast:
19	chr3:164097711..164098324-chr3:164241488..164242482,3	MCF-7	breast:
20	chr3:164154258..164155585-chr3:164352234..164353310,15	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OTOL1-4	chr3:164136236-164136391	XLOC_002899
2	lnc-OTOL1-4	chr3:164137191-164137295	XLOC_002899

No data

Extended variants
information (count: 814 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:814 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13070763	chr3:164088664-164088665	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545126685	chr3:164088691-164088692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192574856	chr3:164088695-164088696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374273584	chr3:164088726-164088727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78394296	chr3:164088748-164088749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185312646	chr3:164088933-164088934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73157132	chr3:164088939-164088940	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs574617796	chr3:164088973-164088974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543114603	chr3:164088978-164088979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557123576	chr3:164089038-164089039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576924353	chr3:164089044-164089045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189793199	chr3:164089049-164089050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76350742	chr3:164089100-164089101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559271708	chr3:164089109-164089110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572779537	chr3:164089119-164089120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147540865	chr3:164089121-164089122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114662392	chr3:164089248-164089249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111388193	chr3:164089294-164089295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550377149	chr3:164089308-164089309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549958781	chr3:164089387-164089388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368988438	chr3:164089416-164089417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574101119	chr3:164089422-164089423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs578148473	chr3:164089429-164089430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563914623	chr3:164089456-164089457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182029821	chr3:164089516-164089517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139427561	chr3:164089520-164089521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs13077034	chr3:164089530-164089531	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs184668835	chr3:164089555-164089556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548221723	chr3:164089569-164089570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567919341	chr3:164089604-164089605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs369203184	chr3:164089696-164089697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537160752	chr3:164089775-164089776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556822808	chr3:164089778-164089779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576872204	chr3:164089831-164089832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539277207	chr3:164089888-164089889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552734800	chr3:164089898-164089899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553341374	chr3:164089920-164089921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572818257	chr3:164089939-164089940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs78031587	chr3:164089948-164089949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs139315194	chr3:164089985-164089986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188285017	chr3:164089993-164089994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184797648	chr3:164093034-164093035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs7641679	chr3:164093065-164093066	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs574231563	chr3:164093227-164093228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542644174	chr3:164093249-164093250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566876568	chr3:164093275-164093276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555855333	chr3:164093280-164093281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576112907	chr3:164093301-164093302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545079340	chr3:164093318-164093319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565085543	chr3:164093371-164093372	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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:164088600-164089800	Enhancers	Fetal Heart	heart
2	chr3:164089600-164090000	Enhancers	Fetal Brain Female	brain
3	chr3:164093000-164094000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr3:164093200-164094000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr3:164094000-164095000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:164095200-164095400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr3:164103800-164104200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:164104000-164104400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:164104000-164107600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:164104200-164104400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:164104400-164104600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:164104600-164105400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:164105400-164106000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:164107600-164107800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr3:164109000-164109800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:164110800-164111200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr3:164110800-164111200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr3:164111000-164111200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr3:164111200-164111400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr3:164111200-164112800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr3:164111400-164112600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr3:164112600-164113000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr3:164112800-164113000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr3:164118800-164119400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:164118800-164119400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr3:164120600-164123000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr3:164122000-164122400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr3:164122000-164122400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr3:164124000-164124200	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr3:164124200-164125400	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr3:164124200-164126000	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr3:164125200-164126200	Enhancers	Colon Smooth Muscle	Colon
33	chr3:164125800-164127600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr3:164134200-164134400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr3:164134200-164135200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr3:164134200-164135200	Enhancers	Adipose Nuclei	Adipose
37	chr3:164134400-164134800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr3:164134400-164135200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr3:164135200-164136400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr3:164135800-164136400	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr3:164136200-164136600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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