Variant report

Variant	nsv873177
Chromosome Location	chr1:216622208-216639980
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:216635219..216637699-chr1:216639556..216643694,3	MCF-7	breast:
2	chr1:216636863..216639290-chr1:216639438..216641574,2	MCF-7	breast:
3	chr1:216622981..216624507-chr1:216637851..216639964,2	MCF-7	breast:
4	chr1:216629602..216631195-chr1:216631680..216634222,2	MCF-7	breast:
5	chr1:216635219..216637699-chr1:216639556..216643694,3	MCF-7	breast:
6	chr1:216622981..216624507-chr1:216637851..216639964,2	MCF-7	breast:
7	chr1:216636895..216639033-chr1:216642628..216645185,2	K562	blood:
8	chr1:216636863..216639290-chr1:216639438..216641574,2	MCF-7	breast:
9	chr1:216636945..216637675-chr3:18331682..18332315,2	MCF-7	breast:
10	chr1:216629602..216631195-chr1:216631680..216634222,2	MCF-7	breast:

No data

Extended variants
information (count: 696 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:696 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11117582	chr1:216622208-216622209	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs185858510	chr1:216622219-216622220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569164771	chr1:216622236-216622237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143620828	chr1:216622251-216622252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148057766	chr1:216622256-216622257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141758947	chr1:216622288-216622289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528002262	chr1:216622347-216622348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547446792	chr1:216622365-216622366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570826435	chr1:216622368-216622369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370353235	chr1:216622386-216622387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539901443	chr1:216622388-216622389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556734557	chr1:216622389-216622390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370748542	chr1:216622393-216622394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371733233	chr1:216622397-216622398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529872745	chr1:216622407-216622408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189832745	chr1:216622427-216622428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538067387	chr1:216622462-216622463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115420619	chr1:216622467-216622468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145985364	chr1:216622501-216622502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115804822	chr1:216622557-216622558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372790578	chr1:216622620-216622621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573060207	chr1:216622626-216622627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182127507	chr1:216622661-216622662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545488345	chr1:216622712-216622713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138599485	chr1:216622736-216622737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186149544	chr1:216622748-216622749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs386639339	chr1:216622782-216622783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114901383	chr1:216622783-216622784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs61828138	chr1:216622808-216622809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372329217	chr1:216622826-216622827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs67422772	chr1:216622852-216622853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146190159	chr1:216622854-216622855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79537310	chr1:216622863-216622864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550277272	chr1:216622920-216622921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376259735	chr1:216622935-216622936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369282818	chr1:216622944-216622945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535970369	chr1:216622945-216622946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548055020	chr1:216622953-216622954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568250496	chr1:216622982-216622983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75815980	chr1:216623016-216623017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371943493	chr1:216623032-216623033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540441711	chr1:216623049-216623050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191874092	chr1:216623150-216623151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184167383	chr1:216623153-216623154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188325412	chr1:216623157-216623158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528041340	chr1:216623176-216623177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555754361	chr1:216623203-216623204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575701839	chr1:216623212-216623213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559155605	chr1:216623214-216623215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562099974	chr1:216623289-216623290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:153 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216621800-216629600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr1:216627000-216627600	Enhancers	Fetal Heart	heart
3	chr1:216629600-216630000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:216629600-216630000	Enhancers	Muscle Satellite Cultured Cells	--
5	chr1:216629600-216630200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:216629600-216631200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:216629600-216631200	Enhancers	Hela-S3	cervix
8	chr1:216629800-216630400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:216629800-216630600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:216629800-216630600	Enhancers	NHEK	skin
11	chr1:216629800-216631000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr1:216629800-216631000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr1:216629800-216631000	Enhancers	NH-A	brain
14	chr1:216629800-216631200	Enhancers	HSMMtube	muscle
15	chr1:216629800-216631400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:216630000-216630200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:216630000-216630200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr1:216630000-216630200	Enhancers	NHLF	lung
19	chr1:216630000-216630400	Enhancers	Osteobl	bone
20	chr1:216630000-216630600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:216630000-216630800	Enhancers	NHDF-Ad	bronchial
22	chr1:216630000-216631000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:216630000-216631000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:216630000-216631000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:216630000-216631000	Enhancers	HSMM	muscle
26	chr1:216630000-216631600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:216630200-216630400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:216630200-216630400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr1:216630200-216631000	Enhancers	H9 Cell Line	embryonic stem cell
30	chr1:216630200-216631000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:216630200-216631000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:216630200-216632400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:216630200-216634600	Weak transcription	NHLF	lung
34	chr1:216630400-216630600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:216630400-216630600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:216630400-216630600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr1:216630400-216630800	Weak transcription	Osteobl	bone
38	chr1:216630400-216631200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:216630400-216632400	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr1:216630600-216630800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:216630600-216630800	Enhancers	Muscle Satellite Cultured Cells	--
42	chr1:216630600-216631000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:216630600-216632200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:216630600-216632600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:216630600-216634800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr1:216630600-216636600	Weak transcription	NHEK	skin
47	chr1:216630800-216631000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:216630800-216631000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr1:216630800-216631000	Enhancers	Osteobl	bone
50	chr1:216630800-216636000	Weak transcription	NHDF-Ad	bronchial

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