Variant report

Variant	nsv999868
Chromosome Location	chr3:76068393-76274977
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:76229021..76231631-chr3:76233875..76235405,2	MCF-7	breast:
2	chr3:76073881..76074768-chr3:76093884..76094767,3	MCF-7	breast:
3	chr3:75867624..75868149-chr3:76093803..76094658,2	MCF-7	breast:
4	chr3:76073881..76074768-chr3:76093884..76094767,3	MCF-7	breast:
5	chr3:76229021..76231631-chr3:76233875..76235405,2	MCF-7	breast:
6	chr3:76077395..76079009-chr3:76080848..76082898,2	K562	blood:
7	chr3:76271078..76272615-chr3:76275655..76278164,2	MCF-7	breast:
8	chr3:76077395..76079009-chr3:76080848..76082898,2	K562	blood:

No data

Extended variants
information (count: 5256 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:5256 , 50 per page) page: 1 2 3 4 5 6 7 ... 106

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529027409	chr3:76069041-76069042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544278101	chr3:76069043-76069044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140020485	chr3:76069061-76069062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142337958	chr3:76069117-76069118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540874866	chr3:76069128-76069129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552924181	chr3:76069158-76069159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183087891	chr3:76069160-76069161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556979389	chr3:76069201-76069202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147012655	chr3:76069292-76069293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546716098	chr3:76069314-76069315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73841076	chr3:76069362-76069363	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs535565362	chr3:76069394-76069395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557003445	chr3:76069446-76069447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568735267	chr3:76069486-76069487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148048482	chr3:76069488-76069489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377076434	chr3:76069495-76069496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557919940	chr3:76069497-76069498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140842364	chr3:76069504-76069505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375152172	chr3:76069559-76069560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150132100	chr3:76069579-76069580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138581254	chr3:76069581-76069582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371167547	chr3:76069588-76069589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573638008	chr3:76069600-76069601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544339680	chr3:76069638-76069639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562540739	chr3:76069680-76069681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533035703	chr3:76069695-76069696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546452145	chr3:76069742-76069743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564690223	chr3:76069780-76069781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186789773	chr3:76069860-76069861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547233636	chr3:76069889-76069890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561957374	chr3:76069924-76069925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189690131	chr3:76069940-76069941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182630167	chr3:76069955-76069956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367745676	chr3:76069956-76069957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187917946	chr3:76070048-76070049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569045324	chr3:76070081-76070082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371790829	chr3:76070088-76070089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs60282647	chr3:76070134-76070135	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs542674519	chr3:76070135-76070136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368494686	chr3:76070159-76070160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551333303	chr3:76070164-76070165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566615611	chr3:76070200-76070201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112873971	chr3:76070208-76070209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192842576	chr3:76070230-76070231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555083881	chr3:76070273-76070274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185252484	chr3:76070289-76070290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368840343	chr3:76070311-76070312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542329130	chr3:76070364-76070365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141672710	chr3:76070377-76070378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs675542	chr3:76070382-76070383	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:83)

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	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:454 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:76069000-76072200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:76070000-76073600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr3:76070600-76071000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:76070800-76071200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr3:76073000-76075200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr3:76073600-76073800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr3:76073600-76075200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr3:76073800-76074400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr3:76073800-76075000	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr3:76074400-76075000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr3:76074400-76075200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr3:76074600-76074800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr3:76074600-76075200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:76074600-76075800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr3:76074800-76076000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr3:76075000-76075200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr3:76075200-76078000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr3:76075200-76078000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr3:76075200-76088000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:76075800-76076200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr3:76076200-76078000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr3:76077000-76084400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr3:76078000-76078200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr3:76078000-76078200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr3:76082400-76082600	Enhancers	H1 Cell Line	embryonic stem cell
26	chr3:76082400-76082600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr3:76082400-76082600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr3:76082400-76083000	Enhancers	H9 Cell Line	embryonic stem cell
29	chr3:76082600-76083600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr3:76082600-76084000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr3:76082600-76084000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr3:76083000-76087600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr3:76083000-76088000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr3:76083600-76085000	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr3:76083600-76085200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr3:76083800-76084400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr3:76084000-76084200	Enhancers	H1 Cell Line	embryonic stem cell
38	chr3:76084000-76084200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr3:76084000-76084200	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr3:76084000-76084600	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr3:76084200-76084800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr3:76084200-76087400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr3:76084200-76087600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr3:76084400-76084800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr3:76084400-76085200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr3:76084600-76085000	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr3:76084800-76085000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr3:76084800-76085000	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr3:76085000-76085200	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr3:76085000-76087000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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