Variant report

Variant	nsv1008920
Chromosome Location	chr3:162037850-162123354
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:162084506..162087458-chr3:162087812..162089576,2	MCF-7	breast:
2	chr3:162118223..162119105-chr3:162517137..162517997,2	MCF-7	breast:
3	chr3:162065911..162068435-chr3:162071341..162073387,2	K562	blood:
4	chr3:162065911..162068435-chr3:162071341..162073387,2	K562	blood:
5	chr3:162122033..162123865-chr3:162146680..162148744,2	K562	blood:
6	chr3:162084506..162087458-chr3:162087812..162089576,2	MCF-7	breast:

Extended variants
information (count: 1020 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1020 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367583050	chr3:162047200-162047201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566594119	chr3:162047248-162047249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535728853	chr3:162047280-162047281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549305536	chr3:162047289-162047290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144751679	chr3:162047304-162047305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190655251	chr3:162047308-162047309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs13064733	chr3:162047323-162047324	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs77457048	chr3:162047332-162047333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571299016	chr3:162047349-162047350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs55949135	chr3:162047391-162047392	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs148551650	chr3:162047395-162047396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574162920	chr3:162047427-162047428	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs73035781	chr3:162047443-162047444	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs556458742	chr3:162047449-162047450	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs181862005	chr3:162047451-162047452	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs544985935	chr3:162047452-162047453	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs35872613	chr3:162047458-162047459	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs565161245	chr3:162047469-162047470	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs186382661	chr3:162047515-162047516	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs189655509	chr3:162047530-162047531	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs142935823	chr3:162047591-162047592	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs548165969	chr3:162047610-162047611	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs529101127	chr3:162047631-162047632	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs549266640	chr3:162047636-162047637	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs569160044	chr3:162047642-162047643	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs531667414	chr3:162047666-162047667	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs551393984	chr3:162047727-162047728	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs560579728	chr3:162047743-162047744	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs182436810	chr3:162047796-162047797	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs560451018	chr3:162052205-162052206	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs575120602	chr3:162052210-162052211	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs529271698	chr3:162052229-162052230	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs144910300	chr3:162052232-162052233	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs562629327	chr3:162052287-162052288	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs531720658	chr3:162052298-162052299	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs550747338	chr3:162052316-162052317	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs570594089	chr3:162052319-162052320	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs7616452	chr3:162052320-162052321	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs533210248	chr3:162052345-162052346	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs116771671	chr3:162052371-162052372	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs369960743	chr3:162052383-162052384	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs117324980	chr3:162052406-162052407	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs35056055	chr3:162052413-162052414	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs535458327	chr3:162052430-162052431	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs75728770	chr3:162052458-162052459	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs543938735	chr3:162052461-162052462	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs529778868	chr3:162052597-162052598	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs568950742	chr3:162052598-162052599	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs555746206	chr3:162052600-162052601	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs377049434	chr3:162052603-162052604	ZNF genes & repeats	n/a	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
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
Prostate cancer	18632612	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
Bladder cancer	21909424	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
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162047200-162047400	Enhancers	A549	lung
2	chr3:162047400-162047800	Flanking Active TSS	A549	lung
3	chr3:162052200-162053000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:162052400-162053000	ZNF genes & repeats	Dnd41	blood
5	chr3:162052600-162053000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:162053000-162056000	Weak transcription	Dnd41	blood
7	chr3:162055200-162057000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr3:162055400-162057000	Enhancers	HSMM	muscle
9	chr3:162056000-162057200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr3:162056000-162057200	Enhancers	Dnd41	blood
11	chr3:162056200-162056800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:162056600-162057000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr3:162059200-162060000	Enhancers	Dnd41	blood
14	chr3:162066200-162067000	Enhancers	Colon Smooth Muscle	Colon
15	chr3:162066600-162066800	Enhancers	Fetal Lung	lung
16	chr3:162066600-162067000	Enhancers	Stomach Smooth Muscle	stomach
17	chr3:162067000-162071200	Weak transcription	Colon Smooth Muscle	Colon
18	chr3:162070800-162072000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr3:162070800-162072000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr3:162070800-162072000	Enhancers	Fetal Stomach	stomach
21	chr3:162071000-162072000	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr3:162071000-162072400	Enhancers	Primary hematopoietic stem cells	blood
23	chr3:162071200-162071800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr3:162071200-162071800	Enhancers	Colon Smooth Muscle	Colon
25	chr3:162071200-162071800	Enhancers	HSMM	muscle
26	chr3:162071200-162072000	Enhancers	Dnd41	blood
27	chr3:162071200-162072200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr3:162071400-162071800	Enhancers	Fetal Kidney	kidney
29	chr3:162071800-162072600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr3:162082000-162082200	Enhancers	Rectal Smooth Muscle	rectum
31	chr3:162082000-162083400	Enhancers	Colon Smooth Muscle	Colon
32	chr3:162082200-162082400	Enhancers	Fetal Stomach	stomach
33	chr3:162082200-162083200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr3:162082400-162083200	Weak transcription	Fetal Stomach	stomach
35	chr3:162082600-162085000	Enhancers	Dnd41	blood
36	chr3:162082800-162088400	Enhancers	Fetal Heart	heart
37	chr3:162083200-162083400	Enhancers	Rectal Smooth Muscle	rectum
38	chr3:162083200-162083600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr3:162083200-162086400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr3:162083200-162087800	Enhancers	Fetal Stomach	stomach
41	chr3:162083400-162084000	Enhancers	Muscle Satellite Cultured Cells	--
42	chr3:162083400-162084000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr3:162083400-162084400	Weak transcription	Colon Smooth Muscle	Colon
44	chr3:162083600-162085600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr3:162083600-162086600	Enhancers	Fetal Lung	lung
46	chr3:162083800-162084200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr3:162083800-162086400	Enhancers	Fetal Kidney	kidney
48	chr3:162084000-162084600	Active TSS	NHLF	lung
49	chr3:162084000-162085600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr3:162084000-162087400	Enhancers	Rectal Smooth Muscle	rectum

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