Variant report

Variant	nsv1017260
Chromosome Location	chr7:83393101-83506643
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:83456371..83459960-chr7:83460800..83464283,4	K562	blood:
2	chr7:83489185..83491209-chr7:83492617..83495468,2	MCF-7	breast:
3	chr7:83456371..83459960-chr7:83460800..83464283,4	K562	blood:
4	chr7:83456371..83458031-chr7:83460982..83463180,2	K562	blood:
5	chr7:83460398..83462244-chr7:83469602..83471375,2	MCF-7	breast:
6	chr7:83420261..83421936-chr7:83439188..83441128,2	K562	blood:
7	chr7:83456371..83458031-chr7:83460982..83463180,2	K562	blood:
8	chr7:83423084..83425253-chr7:83427372..83429085,2	K562	blood:
9	chr5:42182671..42183209-chr7:83415074..83415902,2	MCF-7	breast:
10	chr7:83420261..83421936-chr7:83439188..83441128,2	K562	blood:
11	chr7:83489185..83491209-chr7:83492617..83495468,2	MCF-7	breast:
12	chr7:83423084..83425253-chr7:83427372..83429085,2	K562	blood:
13	chr7:83483719..83485760-chr7:83487452..83489726,2	K562	blood:
14	chr7:83460398..83462244-chr7:83469602..83471375,2	MCF-7	breast:
15	chr7:83483719..83485760-chr7:83487452..83489726,2	K562	blood:

No data

Extended variants
information (count: 1997 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1997 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546171316	chr7:83403418-83403419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs532214762	chr7:83403433-83403434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552085297	chr7:83403437-83403438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565821279	chr7:83403473-83403474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534430499	chr7:83403498-83403499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548235238	chr7:83403508-83403509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs59727672	chr7:83403536-83403537	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs13241482	chr7:83403539-83403540	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs13231318	chr7:83403567-83403568	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs57450621	chr7:83403579-83403580	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs185974008	chr7:83403583-83403584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138805564	chr7:83403635-83403636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572565014	chr7:83403670-83403671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541187264	chr7:83403678-83403679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1969477	chr7:83403731-83403732	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs112285511	chr7:83403802-83403803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572974547	chr7:83403823-83403824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543403319	chr7:83403873-83403874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563291403	chr7:83403881-83403882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531691530	chr7:83403962-83403963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141287748	chr7:83403982-83403983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4374913	chr7:83404001-83404002	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs112061314	chr7:83404029-83404030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559300930	chr7:83404078-83404079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530820918	chr7:83404108-83404109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190685301	chr7:83404115-83404116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368238547	chr7:83404117-83404118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539959678	chr7:83404118-83404119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550903358	chr7:83404128-83404129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564318500	chr7:83404148-83404149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568149692	chr7:83404228-83404229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79801498	chr7:83404277-83404278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146980755	chr7:83404295-83404296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570420508	chr7:83404326-83404327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538977795	chr7:83404389-83404390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559174699	chr7:83404390-83404391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566170029	chr7:83404429-83404430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535205399	chr7:83404450-83404451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34144453	chr7:83404507-83404508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77751541	chr7:83404517-83404518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182796647	chr7:83404529-83404530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374094955	chr7:83404541-83404542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543466621	chr7:83404574-83404575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138154766	chr7:83404615-83404616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs80059946	chr7:83404631-83404632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577137223	chr7:83404637-83404638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545802778	chr7:83404655-83404656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146162170	chr7:83404703-83404704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559578800	chr7:83404722-83404723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188458793	chr7:83404729-83404730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:209 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83403400-83405800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr7:83405600-83406400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
3	chr7:83405600-83406400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr7:83406200-83406600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr7:83411000-83411200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:83411200-83412800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:83411200-83413200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:83411600-83412600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:83411800-83413200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:83412000-83412600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:83412200-83412600	Enhancers	Adipose Nuclei	Adipose
12	chr7:83424000-83427800	Enhancers	GM12878-XiMat	blood
13	chr7:83424600-83425800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:83424600-83426400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:83424800-83425800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:83425000-83426200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:83427800-83428200	Flanking Active TSS	GM12878-XiMat	blood
18	chr7:83428200-83429200	Enhancers	GM12878-XiMat	blood
19	chr7:83435800-83436600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:83446400-83447800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr7:83450400-83451600	Enhancers	Stomach Mucosa	stomach
22	chr7:83450600-83451600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:83452800-83454400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:83453200-83454600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr7:83453200-83454600	Enhancers	HUVEC	blood vessel
26	chr7:83453200-83454800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:83453400-83453600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:83453800-83454200	Enhancers	NH-A	brain
29	chr7:83454600-83456200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr7:83454800-83456200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:83455600-83457400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:83456200-83457000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:83456200-83457000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr7:83456400-83457000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:83456400-83457000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr7:83459000-83459200	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr7:83459000-83459200	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr7:83459200-83459400	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr7:83459200-83460200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr7:83459200-83460200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr7:83459400-83460200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr7:83460200-83460400	Enhancers	H9 Cell Line	embryonic stem cell
43	chr7:83460200-83460400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:83460200-83460600	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr7:83460200-83460600	ZNF genes & repeats	Aorta	Aorta
46	chr7:83460200-83460800	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr7:83460200-83460800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr7:83460200-83463200	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr7:83460200-83465400	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr7:83460200-83465800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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