Variant report

Variant	nsv877056
Chromosome Location	chr3:83053687-83169976
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	chr3:83118932..83120993-chr3:83127067..83129361,2	MCF-7	breast:
2	chr3:83141093..83143297-chr3:83147179..83148923,2	MCF-7	breast:
3	chr3:83094824..83097572-chr3:83098573..83100437,2	K562	blood:
4	chr3:83141093..83143297-chr3:83147179..83148923,2	MCF-7	breast:
5	chr3:83095575..83097816-chr3:83106145..83108018,2	MCF-7	breast:
6	chr3:83095575..83097816-chr3:83106145..83108018,2	MCF-7	breast:
7	chr3:83118932..83120993-chr3:83127067..83129361,2	MCF-7	breast:
8	chr3:83094824..83097572-chr3:83098573..83100437,2	K562	blood:

No data

Extended variants
information (count: 942 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:942 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2873498	chr3:83053687-83053688	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs368575898	chr3:83053710-83053711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528279571	chr3:83053727-83053728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541861909	chr3:83053738-83053739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561649466	chr3:83053774-83053775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530489219	chr3:83053792-83053793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550289606	chr3:83053821-83053822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34405761	chr3:83053838-83053839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112609405	chr3:83053858-83053859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113329719	chr3:83053886-83053887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115038415	chr3:83053920-83053921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552942320	chr3:83053943-83053944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs151170966	chr3:83053961-83053962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541722602	chr3:83053964-83053965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370768907	chr3:83053971-83053972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535255641	chr3:83054060-83054061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548631398	chr3:83054068-83054069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568447221	chr3:83054094-83054095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35486535	chr3:83054138-83054139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10511096	chr3:83054246-83054247	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs141281239	chr3:83054262-83054263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183634231	chr3:83054274-83054275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533201626	chr3:83054278-83054279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552851044	chr3:83054279-83054280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572672869	chr3:83054297-83054298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541673305	chr3:83054306-83054307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549855638	chr3:83054369-83054370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145021284	chr3:83054370-83054371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188347366	chr3:83054383-83054384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544338510	chr3:83054388-83054389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114591713	chr3:83054458-83054459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs77734414	chr3:83054485-83054486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs147571950	chr3:83054494-83054495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560107321	chr3:83054566-83054567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528817950	chr3:83054592-83054593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs199603447	chr3:83054593-83054594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs72271538	chr3:83054594-83054595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs201638150	chr3:83054595-83054596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs56884935	chr3:83054620-83054621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537025048	chr3:83054622-83054623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs374927767	chr3:83054623-83054624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548473721	chr3:83054686-83054687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs41514251	chr3:83054736-83054737	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs142252947	chr3:83054766-83054767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs371198015	chr3:83054781-83054782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551063084	chr3:83054800-83054801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570465931	chr3:83054852-83054853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539468957	chr3:83054858-83054859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs150173024	chr3:83054902-83054903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572785232	chr3:83054911-83054912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
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
Acute myeloid leukemia	20729466	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
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
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Autism	20808228	CNVD
Urothelial carcinoma	21177765	CNVD
Neurodevelopmental disorder	22521361	CNVD
Medulloblastoma	16783165	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:83048400-83054800	Enhancers	Dnd41	blood
2	chr3:83049000-83054800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr3:83050000-83060800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr3:83052200-83054200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr3:83052200-83054600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr3:83052200-83054600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:83052600-83054800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr3:83053200-83053800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr3:83053200-83054200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr3:83053600-83054200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr3:83053600-83057200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr3:83053800-83054200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr3:83054200-83054800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr3:83054200-83055200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr3:83054200-83055600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr3:83054200-83055600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr3:83054400-83054800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:83054600-83055000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr3:83054800-83055200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr3:83054800-83055200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr3:83055000-83055600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr3:83055200-83056200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr3:83055200-83057000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr3:83055200-83058200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr3:83055600-83056600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr3:83055600-83056600	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr3:83055600-83058000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr3:83056600-83057000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr3:83056800-83057000	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr3:83057000-83058200	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr3:83057200-83057600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr3:83057400-83058000	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr3:83057600-83058200	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr3:83058200-83058400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr3:83060000-83061200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr3:83063400-83063600	Enhancers	Small Intestine	intestine
37	chr3:83064400-83064800	Enhancers	Fetal Lung	lung
38	chr3:83082000-83082400	Enhancers	NH-A	brain
39	chr3:83082200-83082800	Enhancers	Liver	Liver
40	chr3:83082600-83082800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr3:83082600-83083000	Enhancers	NH-A	brain
42	chr3:83084000-83084200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr3:83084000-83084200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr3:83084000-83084200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr3:83084000-83084200	Enhancers	Spleen	Spleen
46	chr3:83084000-83084600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr3:83084600-83085000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr3:83085000-83090400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr3:83088400-83089000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr3:83088600-83089000	Enhancers	NH-A	brain

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