Variant report

Variant	nsv432495
Chromosome Location	chr3:160534298-160548298
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:160395405..160397806-chr3:160539467..160541973,2	MCF-7	breast:
2	chr3:160532424..160534589-chr3:160584064..160586211,2	MCF-7	breast:
3	chr3:160535684..160538516-chr3:160543407..160545193,2	MCF-7	breast:
4	chr3:160471633..160473145-chr3:160535798..160537837,2	MCF-7	breast:
5	chr3:160535684..160538516-chr3:160543407..160545193,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260572	chromatin interactions

Extended variants
information (count: 482 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:482 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1455870	chr3:160534326-160534327	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191097996	chr3:160534358-160534359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146036142	chr3:160534402-160534403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183409027	chr3:160534406-160534407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1455871	chr3:160534411-160534412	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs538590378	chr3:160534490-160534491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558312181	chr3:160534560-160534561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373440858	chr3:160534588-160534589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542725871	chr3:160534609-160534610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139946220	chr3:160534640-160534641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534740401	chr3:160534717-160534718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554786531	chr3:160534751-160534752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574648504	chr3:160534755-160534756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553993922	chr3:160534776-160534777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546163787	chr3:160534778-160534779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543661939	chr3:160534810-160534811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557244753	chr3:160534840-160534841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577070381	chr3:160534942-160534943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531118482	chr3:160534954-160534955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546169452	chr3:160535022-160535023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559535535	chr3:160535036-160535037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62272826	chr3:160535119-160535120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541887763	chr3:160535163-160535164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185740264	chr3:160535218-160535219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530965756	chr3:160535261-160535262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550773586	chr3:160535280-160535281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145558907	chr3:160535291-160535292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148441507	chr3:160535307-160535308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552131476	chr3:160535342-160535343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565571220	chr3:160535367-160535368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540229874	chr3:160535411-160535412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142551580	chr3:160535438-160535439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370819832	chr3:160535506-160535507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559674050	chr3:160535516-160535517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190593090	chr3:160535594-160535595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556916756	chr3:160535635-160535636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532421771	chr3:160535647-160535648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183084080	chr3:160535651-160535652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12487861	chr3:160535721-160535722	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs569599204	chr3:160535729-160535730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34135414	chr3:160535733-160535734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150940118	chr3:160535755-160535756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553247572	chr3:160535800-160535801	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs35317720	chr3:160535819-160535820	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs573127038	chr3:160535831-160535832	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs1378660	chr3:160535871-160535872	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs187802952	chr3:160535922-160535923	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs530953487	chr3:160535995-160535996	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs192653083	chr3:160536004-160536005	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs564554932	chr3:160536053-160536054	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	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
Effusion lymphoma	18079361	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160528200-160537600	Weak transcription	Hela-S3	cervix
2	chr3:160529000-160534400	Weak transcription	Aorta	Aorta
3	chr3:160530600-160536000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:160530600-160537800	Weak transcription	Gastric	stomach
5	chr3:160530800-160540800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr3:160530800-160543200	Weak transcription	Psoas Muscle	Psoas
7	chr3:160534200-160536600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr3:160536000-160536200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr3:160536000-160536400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr3:160536400-160540200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:160537800-160538000	Enhancers	Gastric	stomach
12	chr3:160537800-160538000	Enhancers	Hela-S3	cervix
13	chr3:160537800-160538400	Enhancers	Fetal Brain Female	brain
14	chr3:160537800-160538600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr3:160537800-160543400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr3:160538000-160538800	Weak transcription	Gastric	stomach
17	chr3:160538800-160539000	Enhancers	Gastric	stomach
18	chr3:160539000-160539200	Weak transcription	Gastric	stomach
19	chr3:160540200-160541800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:160540400-160540800	Enhancers	Brain Germinal Matrix	brain
21	chr3:160540400-160541200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:160540600-160541000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr3:160540600-160541000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr3:160540800-160542600	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr3:160541000-160543200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr3:160541200-160543200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:160541400-160543000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr3:160541800-160542400	Enhancers	Left Ventricle	heart
29	chr3:160541800-160544800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr3:160542000-160542400	Enhancers	Right Ventricle	heart
31	chr3:160542400-160543200	Weak transcription	Right Ventricle	heart
32	chr3:160542400-160543600	Weak transcription	Left Ventricle	heart
33	chr3:160542600-160543600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr3:160542800-160549000	Enhancers	Fetal Heart	heart
35	chr3:160543000-160543800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr3:160543000-160544800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr3:160543200-160543400	Enhancers	H1 Cell Line	embryonic stem cell
38	chr3:160543200-160543600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr3:160543200-160543600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:160543200-160543600	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr3:160543200-160544000	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr3:160543200-160544000	Enhancers	Psoas Muscle	Psoas
43	chr3:160543200-160544000	Enhancers	Right Ventricle	heart
44	chr3:160543400-160544000	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr3:160543600-160544000	Enhancers	Left Ventricle	heart
46	chr3:160543600-160544000	Enhancers	Right Atrium	heart
47	chr3:160543600-160544800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr3:160543600-160547200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:160543600-160547400	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr3:160543800-160544000	Enhancers	Esophagus	oesophagus

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