Variant report

Variant	esv3463599
Chromosome Location	chr3:164167718-164188619
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:164172109..164174038-chr3:164174239..164176085,2	MCF-7	breast:
2	chr3:164172109..164174038-chr3:164174239..164176085,2	MCF-7	breast:

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

Extended variants
information (count: 825 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:825 , 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	rs551810474	chr3:164167817-164167818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145705247	chr3:164167939-164167940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534314287	chr3:164167956-164167957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547606671	chr3:164167968-164167969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567724103	chr3:164168019-164168020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1084721	chr3:164168066-164168067	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs556328258	chr3:164168130-164168131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs13076495	chr3:164168141-164168142	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs538900638	chr3:164168203-164168204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558546831	chr3:164168204-164168205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571913511	chr3:164168207-164168208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541006688	chr3:164168226-164168227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560850189	chr3:164168291-164168292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs6802643	chr3:164168316-164168317	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs543684567	chr3:164168341-164168342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543617636	chr3:164168342-164168343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189008289	chr3:164168353-164168354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369351146	chr3:164168361-164168362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182004885	chr3:164168391-164168392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs372968561	chr3:164168402-164168403	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs376189726	chr3:164168403-164168404	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs397734501	chr3:164168412-164168413	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs138274956	chr3:164168422-164168423	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs559580562	chr3:164168432-164168433	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs527709774	chr3:164168470-164168471	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs370028982	chr3:164168472-164168473	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs142957961	chr3:164168485-164168486	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs373355459	chr3:164168502-164168503	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs6769265	chr3:164168511-164168512	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs186502656	chr3:164168529-164168530	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs536305609	chr3:164168541-164168542	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs549964240	chr3:164168564-164168565	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs146136164	chr3:164168570-164168571	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs538964217	chr3:164168571-164168572	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs80035923	chr3:164168636-164168637	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs377026091	chr3:164168637-164168638	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566340973	chr3:164168684-164168685	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs141592966	chr3:164168694-164168695	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs77618130	chr3:164168754-164168755	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574597786	chr3:164168762-164168763	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs140085164	chr3:164168764-164168765	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376106997	chr3:164168766-164168767	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543498857	chr3:164168787-164168788	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs118179694	chr3:164168860-164168861	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs571988584	chr3:164168913-164168914	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs117130290	chr3:164168920-164168921	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs540644525	chr3:164168955-164168956	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs545997147	chr3:164168965-164168966	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs559431737	chr3:164169003-164169004	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs74998118	chr3:164169078-164169079	Enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:164167800-164168600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr3:164168200-164168400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr3:164168200-164169200	Enhancers	Liver	Liver
4	chr3:164168200-164170000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr3:164168400-164168600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr3:164168400-164169000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr3:164168600-164169000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr3:164168600-164169200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:164168800-164169200	Enhancers	Brain Anterior Caudate	brain
10	chr3:164168800-164169200	Enhancers	Colon Smooth Muscle	Colon
11	chr3:164168800-164169200	Enhancers	NHDF-Ad	bronchial
12	chr3:164168800-164169400	Enhancers	Ovary	ovary
13	chr3:164168800-164169800	Active TSS	Right Atrium	heart
14	chr3:164168800-164170200	Active TSS	Stomach Smooth Muscle	stomach
15	chr3:164169000-164169200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr3:164169000-164169400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr3:164169000-164169400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:164169000-164169600	Active TSS	Adipose Nuclei	Adipose
19	chr3:164169000-164169800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr3:164169000-164169800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr3:164169000-164169800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr3:164169200-164169400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:164169200-164176400	Weak transcription	NHDF-Ad	bronchial
24	chr3:164169400-164170000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr3:164169400-164170000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:164169400-164170000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:164169400-164170400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr3:164169800-164170200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr3:164169800-164170200	Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr3:164170000-164170200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr3:164170200-164170400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr3:164170200-164171200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr3:164170400-164170800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr3:164170800-164171200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr3:164171200-164172600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr3:164172600-164172800	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr3:164172600-164176400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr3:164176200-164176600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr3:164176200-164176800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr3:164176400-164176600	Enhancers	A549	lung
41	chr3:164176400-164176800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr3:164176400-164178000	Enhancers	NHDF-Ad	bronchial
43	chr3:164176800-164178600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr3:164177400-164178000	Enhancers	Fetal Intestine Small	intestine
45	chr3:164177600-164178000	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr3:164177800-164179000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr3:164178000-164178400	Weak transcription	NHDF-Ad	bronchial
48	chr3:164178200-164180600	Weak transcription	A549	lung
49	chr3:164178400-164178600	Enhancers	NHDF-Ad	bronchial
50	chr3:164178400-164179000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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