Variant report

Variant	nsv818152
Chromosome Location	chr3:76077143-76094221
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:76077395..76079009-chr3:76080848..76082898,2	K562	blood:
2	chr3:75867624..75868149-chr3:76093803..76094658,2	MCF-7	breast:
3	chr3:76077395..76079009-chr3:76080848..76082898,2	K562	blood:
4	chr3:76073881..76074768-chr3:76093884..76094767,3	MCF-7	breast:

Extended variants
information (count: 767 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:767 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs679219	chr3:76077143-76077144	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs34675330	chr3:76077177-76077178	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs35585308	chr3:76077287-76077288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558341903	chr3:76077311-76077312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554327260	chr3:76077331-76077332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573068372	chr3:76077339-76077340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140781337	chr3:76077340-76077341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555671891	chr3:76077346-76077347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573981346	chr3:76077374-76077375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574563555	chr3:76077387-76077388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78512674	chr3:76077406-76077407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10662247	chr3:76077407-76077408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375748674	chr3:76077410-76077411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs397690886	chr3:76077411-76077412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566445463	chr3:76077450-76077451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544636261	chr3:76077455-76077456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562738281	chr3:76077469-76077470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192632105	chr3:76077480-76077481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184902735	chr3:76077489-76077490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560402774	chr3:76077515-76077516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142330485	chr3:76077520-76077521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375013916	chr3:76077564-76077565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549176842	chr3:76077569-76077570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115820370	chr3:76077595-76077596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188603749	chr3:76077667-76077668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573150456	chr3:76077721-76077722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545410692	chr3:76077723-76077724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549793578	chr3:76077734-76077735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565322568	chr3:76077766-76077767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550514511	chr3:76077777-76077778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs72890383	chr3:76077778-76077779	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs13097828	chr3:76077798-76077799	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs374509966	chr3:76077804-76077805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs55910238	chr3:76077805-76077806	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs618677	chr3:76077808-76077809	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs547233490	chr3:76077810-76077811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555534904	chr3:76077818-76077819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373239502	chr3:76077826-76077827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79470328	chr3:76077933-76077934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538110989	chr3:76077953-76077954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139253402	chr3:76077962-76077963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577921654	chr3:76078005-76078006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545503587	chr3:76078010-76078011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560594305	chr3:76078067-76078068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191564542	chr3:76078089-76078090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567046744	chr3:76078100-76078101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs17013688	chr3:76078182-76078183	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs377140202	chr3:76078187-76078188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561059081	chr3:76078236-76078237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184340688	chr3:76078270-76078271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:167 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:76075200-76078000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:76075200-76078000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr3:76075200-76088000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr3:76076200-76078000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:76077000-76084400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:76078000-76078200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr3:76078000-76078200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:76082400-76082600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr3:76082400-76082600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr3:76082400-76082600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr3:76082400-76083000	Enhancers	H9 Cell Line	embryonic stem cell
12	chr3:76082600-76083600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr3:76082600-76084000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr3:76082600-76084000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr3:76083000-76087600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr3:76083000-76088000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:76083600-76085000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr3:76083600-76085200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr3:76083800-76084400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr3:76084000-76084200	Enhancers	H1 Cell Line	embryonic stem cell
21	chr3:76084000-76084200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr3:76084000-76084200	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr3:76084000-76084600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr3:76084200-76084800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr3:76084200-76087400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr3:76084200-76087600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr3:76084400-76084800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr3:76084400-76085200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr3:76084600-76085000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr3:76084800-76085000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr3:76084800-76085000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr3:76085000-76085200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr3:76085000-76087000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr3:76085000-76087000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr3:76085000-76092400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr3:76085200-76086600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr3:76085200-76087000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr3:76085200-76087400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr3:76086600-76087600	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr3:76086800-76089600	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr3:76087000-76087200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr3:76087000-76087800	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr3:76087000-76088000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr3:76087000-76088400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr3:76087000-76089600	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr3:76087200-76088600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr3:76087400-76087800	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr3:76087400-76088400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr3:76087400-76089200	Enhancers	Muscle Satellite Cultured Cells	--
50	chr3:76087600-76087800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell

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