Variant report

Variant	nsv518821
Chromosome Location	chr7:121165809-121177396
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:121172678..121174789-chr7:121174955..121177540,2	MCF-7	breast:
2	chr7:121169034..121171757-chr7:121172284..121174059,2	MCF-7	breast:
3	chr7:121172915..121174708-chr7:121180236..121182378,2	MCF-7	breast:
4	chr7:121175299..121177676-chr7:121178169..121180108,2	MCF-7	breast:
5	chr7:121165657..121169108-chr7:121169362..121172946,4	K562	blood:
6	chr7:121170153..121172336-chr7:121176867..121178434,2	K562	blood:
7	chr7:121171017..121172599-chr7:121198657..121201508,2	K562	blood:
8	chr7:121172678..121174789-chr7:121174955..121177540,2	MCF-7	breast:
9	chr7:121170290..121173101-chr7:121184218..121187943,3	K562	blood:
10	chr7:121169034..121171757-chr7:121172284..121174059,2	MCF-7	breast:
11	chr7:121169242..121171748-chr7:121184406..121186346,2	MCF-7	breast:
12	chr7:121165657..121169108-chr7:121169362..121172946,4	K562	blood:
13	chr7:121170153..121172336-chr7:121176867..121178434,2	K562	blood:

No data

Extended variants
information (count: 480 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:480 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1528353	chr7:121165809-121165810	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs186778626	chr7:121165821-121165822	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149673766	chr7:121165822-121165823	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144432546	chr7:121165831-121165832	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567073127	chr7:121165832-121165833	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148393084	chr7:121165837-121165838	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537231528	chr7:121165839-121165840	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs13221906	chr7:121165862-121165863	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142573788	chr7:121165884-121165885	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564898350	chr7:121165896-121165897	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567758803	chr7:121165912-121165913	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs80306917	chr7:121165933-121165934	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1528352	chr7:121165953-121165954	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs147575848	chr7:121165969-121165970	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142212033	chr7:121165993-121165994	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557736009	chr7:121165998-121165999	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577905443	chr7:121166026-121166027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543233366	chr7:121166028-121166029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs13234785	chr7:121166047-121166048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs79157953	chr7:121166065-121166066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs113401953	chr7:121166073-121166074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542275080	chr7:121166102-121166103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559028152	chr7:121166217-121166218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs377055426	chr7:121166244-121166245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113309418	chr7:121166245-121166246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375984446	chr7:121166254-121166255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs57240960	chr7:121166257-121166258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181699145	chr7:121166258-121166259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187668967	chr7:121166273-121166274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376672641	chr7:121166275-121166276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs199670375	chr7:121166304-121166305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs36186709	chr7:121166307-121166308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200662835	chr7:121166308-121166309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142909831	chr7:121166314-121166315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558446232	chr7:121166322-121166323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553439915	chr7:121166338-121166339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112655185	chr7:121166355-121166356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs62475781	chr7:121166405-121166406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs9719756	chr7:121166418-121166419	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs200039254	chr7:121166426-121166427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555777027	chr7:121166429-121166430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200855632	chr7:121166430-121166431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs13237992	chr7:121166436-121166437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs9719757	chr7:121166449-121166450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541089105	chr7:121166450-121166451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201555260	chr7:121166453-121166454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs200666614	chr7:121166456-121166457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs374003967	chr7:121166457-121166458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190827471	chr7:121166463-121166464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550885357	chr7:121166474-121166475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	21115979	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute monocytic leukemia	16498392	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121162400-121168600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:121162800-121170400	Weak transcription	Fetal Brain Male	brain
3	chr7:121165000-121166200	Enhancers	Osteobl	bone
4	chr7:121165400-121166000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:121165600-121170000	Weak transcription	Adipose Nuclei	Adipose
6	chr7:121165800-121166000	Flanking Active TSS	Colon Smooth Muscle	Colon
7	chr7:121165800-121166200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:121165800-121166200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:121165800-121166200	Enhancers	Rectal Smooth Muscle	rectum
10	chr7:121165800-121168800	Weak transcription	NHDF-Ad	bronchial
11	chr7:121165800-121169000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr7:121165800-121170000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:121166000-121166200	Enhancers	Colon Smooth Muscle	Colon
14	chr7:121166000-121167000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:121166200-121168800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:121166200-121169600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:121167000-121167800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:121167800-121168400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:121167800-121169600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:121168000-121170000	Weak transcription	Stomach Mucosa	stomach
21	chr7:121168600-121168800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:121168800-121169600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:121168800-121170000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:121168800-121170000	Enhancers	HSMM	muscle
25	chr7:121168800-121170000	Enhancers	NHDF-Ad	bronchial
26	chr7:121169000-121169200	Enhancers	HMEC	breast
27	chr7:121169000-121170000	Enhancers	Muscle Satellite Cultured Cells	--
28	chr7:121169000-121171600	Enhancers	HUVEC	blood vessel
29	chr7:121169000-121171800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:121169200-121169800	Weak transcription	HMEC	breast
31	chr7:121169200-121170000	Enhancers	GM12878-XiMat	blood
32	chr7:121169200-121170000	Enhancers	Osteobl	bone
33	chr7:121169200-121171800	Enhancers	HSMMtube	muscle
34	chr7:121169600-121170600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:121169600-121171000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:121169600-121171400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:121169600-121171600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:121169600-121171800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:121169600-121172000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:121169800-121172000	Enhancers	HMEC	breast
41	chr7:121170000-121170400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:121170000-121170400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:121170000-121170400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr7:121170000-121170400	Flanking Active TSS	GM12878-XiMat	blood
45	chr7:121170000-121170400	Flanking Active TSS	NH-A	brain
46	chr7:121170000-121170400	Flanking Active TSS	NHDF-Ad	bronchial
47	chr7:121170000-121170400	Flanking Active TSS	Osteobl	bone
48	chr7:121170000-121170600	Enhancers	Duodenum Mucosa	Duodenum
49	chr7:121170000-121170600	Enhancers	Stomach Mucosa	stomach
50	chr7:121170000-121170600	Flanking Active TSS	HSMM	muscle

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