Variant report

Variant	nsv1000506
Chromosome Location	chr3:83057096-83188062
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	chr3:83141093..83143297-chr3:83147179..83148923,2	MCF-7	breast:
2	chr3:83095575..83097816-chr3:83106145..83108018,2	MCF-7	breast:
3	chr3:83118932..83120993-chr3:83127067..83129361,2	MCF-7	breast:
4	chr3:83095575..83097816-chr3:83106145..83108018,2	MCF-7	breast:
5	chr3:83094824..83097572-chr3:83098573..83100437,2	K562	blood:
6	chr3:83094824..83097572-chr3:83098573..83100437,2	K562	blood:
7	chr3:83118932..83120993-chr3:83127067..83129361,2	MCF-7	breast:
8	chr3:83141093..83143297-chr3:83147179..83148923,2	MCF-7	breast:

No data

Extended variants
information (count: 811 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:811 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139836276	chr3:83057154-83057155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535990082	chr3:83057247-83057248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556120303	chr3:83057272-83057273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575670622	chr3:83057300-83057301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200651817	chr3:83057318-83057319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186309426	chr3:83057320-83057321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375154423	chr3:83057361-83057362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558029919	chr3:83057436-83057437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577784749	chr3:83057472-83057473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191603299	chr3:83057529-83057530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9870776	chr3:83057540-83057541	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs574078678	chr3:83057585-83057586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183235349	chr3:83057590-83057591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114220067	chr3:83057602-83057603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149824921	chr3:83057643-83057644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551674917	chr3:83057678-83057679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563356708	chr3:83057691-83057692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201044599	chr3:83057712-83057713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199858773	chr3:83057732-83057733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565193471	chr3:83057777-83057778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144808964	chr3:83057784-83057785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547548563	chr3:83057804-83057805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567395018	chr3:83057816-83057817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187540641	chr3:83057817-83057818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192404085	chr3:83057842-83057843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549616904	chr3:83057910-83057911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569261996	chr3:83057944-83057945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538267318	chr3:83058023-83058024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529307357	chr3:83058073-83058074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558166824	chr3:83058151-83058152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571588677	chr3:83058166-83058167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534273491	chr3:83058199-83058200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs139544842	chr3:83058244-83058245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574161328	chr3:83058254-83058255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543061128	chr3:83058286-83058287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201092480	chr3:83058290-83058291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs397804240	chr3:83058309-83058310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556405398	chr3:83058367-83058368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576471884	chr3:83058368-83058369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543110053	chr3:83058379-83058380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545404420	chr3:83058383-83058384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565306056	chr3:83058393-83058394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527581217	chr3:83058396-83058397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145162435	chr3:83058402-83058403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561464551	chr3:83058414-83058415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561093525	chr3:83058416-83058417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147555207	chr3:83058460-83058461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371590858	chr3:83058465-83058466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549818120	chr3:83058493-83058494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528327013	chr3:83058508-83058509	Weak transcription	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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:83050000-83060800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:83053600-83057200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr3:83055200-83058200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr3:83055600-83058000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr3:83057000-83058200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr3:83057200-83057600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr3:83057400-83058000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr3:83057600-83058200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr3:83058200-83058400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:83060000-83061200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:83063400-83063600	Enhancers	Small Intestine	intestine
12	chr3:83064400-83064800	Enhancers	Fetal Lung	lung
13	chr3:83082000-83082400	Enhancers	NH-A	brain
14	chr3:83082200-83082800	Enhancers	Liver	Liver
15	chr3:83082600-83082800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:83082600-83083000	Enhancers	NH-A	brain
17	chr3:83084000-83084200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr3:83084000-83084200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr3:83084000-83084200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr3:83084000-83084200	Enhancers	Spleen	Spleen
21	chr3:83084000-83084600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr3:83084600-83085000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr3:83085000-83090400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr3:83088400-83089000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:83088600-83089000	Enhancers	NH-A	brain
26	chr3:83088600-83089600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr3:83088800-83089400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr3:83089000-83090000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:83089400-83090400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr3:83090000-83090800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:83090400-83090600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr3:83090400-83090800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr3:83090400-83090800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr3:83114200-83115600	Enhancers	Dnd41	blood
35	chr3:83114200-83115800	Enhancers	Muscle Satellite Cultured Cells	--
36	chr3:83124600-83125600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr3:83138600-83138800	Weak transcription	Pancreas	Pancrea
38	chr3:83138800-83139200	Genic enhancers	Pancreas	Pancrea
39	chr3:83139200-83142000	Weak transcription	Pancreas	Pancrea
40	chr3:83140800-83142200	Enhancers	Liver	Liver
41	chr3:83141600-83142600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr3:83142200-83142600	Flanking Active TSS	Liver	Liver
43	chr3:83142200-83143200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr3:83142600-83142800	Enhancers	Liver	Liver
45	chr3:83145600-83145800	Enhancers	Pancreas	Pancrea
46	chr3:83163000-83163200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr3:83163200-83164200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr3:83164200-83165400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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