Variant report

Variant	nsv1006831
Chromosome Location	chr3:164123367-164176588
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:10)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:164172109..164174038-chr3:164174239..164176085,2	MCF-7	breast:
2	chr3:164097647..164098678-chr3:164154502..164155534,10	MCF-7	breast:
3	chr3:164172109..164174038-chr3:164174239..164176085,2	MCF-7	breast:
4	chr3:164154966..164155479-chr3:164352397..164353197,2	MCF-7	breast:
5	chr3:164145149..164147604-chr3:164148897..164151396,2	MCF-7	breast:
6	chr3:164097731..164098551-chr3:164154660..164155422,4	MCF-7	breast:
7	chr3:164155004..164155575-chr3:164352325..164352831,2	MCF-7	breast:
8	chr3:164097647..164098715-chr3:164154502..164155534,19	MCF-7	breast:
9	chr3:164154258..164155585-chr3:164352234..164353310,15	MCF-7	breast:
10	chr3:164145149..164147604-chr3:164148897..164151396,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SERPINI1-9	chr3:164169033-164169323	XLOC_002900
2	lnc-SERPINI1-9	chr3:164169033-164169323	XLOC_002900
3	lnc-OTOL1-4	chr3:164136236-164136391	XLOC_002899
4	lnc-OTOL1-4	chr3:164137191-164137295	XLOC_002899

No data

Extended variants
information (count: 589 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:589 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11708847	chr3:164124009-164124010	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574187721	chr3:164124034-164124035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536809039	chr3:164124036-164124037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555875334	chr3:164124037-164124038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181100600	chr3:164124099-164124100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142892043	chr3:164124138-164124139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116182556	chr3:164124177-164124178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187158298	chr3:164124204-164124205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540800749	chr3:164124222-164124223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573356124	chr3:164124266-164124267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561002331	chr3:164124298-164124299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529858927	chr3:164124308-164124309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568586696	chr3:164124323-164124324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549517870	chr3:164124330-164124331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs80278722	chr3:164124343-164124344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368529905	chr3:164124401-164124402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115197204	chr3:164124402-164124403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371878813	chr3:164124465-164124466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2886570	chr3:164124498-164124499	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs571579748	chr3:164124543-164124544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534182139	chr3:164124583-164124584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146085824	chr3:164124623-164124624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567736111	chr3:164124631-164124632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536844040	chr3:164124638-164124639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539216016	chr3:164124661-164124662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556757084	chr3:164124690-164124691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7636354	chr3:164124747-164124748	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs200749827	chr3:164124772-164124773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs72587721	chr3:164124773-164124774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11456852	chr3:164124774-164124775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs66697276	chr3:164124775-164124776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537088347	chr3:164124828-164124829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555067993	chr3:164124849-164124850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114780973	chr3:164124880-164124881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571960639	chr3:164124910-164124911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112740103	chr3:164124938-164124939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560821647	chr3:164125042-164125043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs61447731	chr3:164125058-164125059	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs76022754	chr3:164125108-164125109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563189103	chr3:164125126-164125127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs9290232	chr3:164125223-164125224	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs552224146	chr3:164125224-164125225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112459076	chr3:164125233-164125234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527707720	chr3:164125235-164125236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191520233	chr3:164125246-164125247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs77701844	chr3:164125263-164125264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183504031	chr3:164125274-164125275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550297374	chr3:164125279-164125280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs116268091	chr3:164125301-164125302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs539186125	chr3:164125368-164125369	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Alcoholism	21790672	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:164124000-164124200	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr3:164124200-164125400	Enhancers	Rectal Mucosa Donor 29	rectum
3	chr3:164124200-164126000	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr3:164125200-164126200	Enhancers	Colon Smooth Muscle	Colon
5	chr3:164125800-164127600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:164134200-164134400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr3:164134200-164135200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:164134200-164135200	Enhancers	Adipose Nuclei	Adipose
9	chr3:164134400-164134800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr3:164134400-164135200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:164135200-164136400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:164135800-164136400	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr3:164136200-164136600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:164167800-164168600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:164168200-164168400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr3:164168200-164169200	Enhancers	Liver	Liver
17	chr3:164168200-164170000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:164168400-164168600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:164168400-164169000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr3:164168600-164169000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:164168600-164169200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:164168800-164169200	Enhancers	Brain Anterior Caudate	brain
23	chr3:164168800-164169200	Enhancers	Colon Smooth Muscle	Colon
24	chr3:164168800-164169200	Enhancers	NHDF-Ad	bronchial
25	chr3:164168800-164169400	Enhancers	Ovary	ovary
26	chr3:164168800-164169800	Active TSS	Right Atrium	heart
27	chr3:164168800-164170200	Active TSS	Stomach Smooth Muscle	stomach
28	chr3:164169000-164169200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr3:164169000-164169400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr3:164169000-164169400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr3:164169000-164169600	Active TSS	Adipose Nuclei	Adipose
32	chr3:164169000-164169800	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr3:164169000-164169800	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr3:164169000-164169800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr3:164169200-164169400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr3:164169200-164176400	Weak transcription	NHDF-Ad	bronchial
37	chr3:164169400-164170000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr3:164169400-164170000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr3:164169400-164170000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr3:164169400-164170400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr3:164169800-164170200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr3:164169800-164170200	Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr3:164170000-164170200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr3:164170200-164170400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr3:164170200-164171200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr3:164170400-164170800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr3:164170800-164171200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr3:164171200-164172600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr3:164172600-164172800	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr3:164172600-164176400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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