Variant report

Variant	nsv999578
Chromosome Location	chr1:171578076-171610740
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:7)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:171586720..171588990-chr1:171605882..171608628,2	K562	blood:
2	chr1:171610292..171610843-chr1:171953542..171954408,2	MCF-7	breast:
3	chr1:171590395..171593385-chr1:171605501..171607926,2	K562	blood:
4	chr1:171590395..171593385-chr1:171605501..171607926,2	K562	blood:
5	chr1:171580228..171582659-chr1:171584815..171586532,2	MCF-7	breast:
6	chr1:171580228..171582659-chr1:171584815..171586532,2	MCF-7	breast:
7	chr1:171586720..171588990-chr1:171605882..171608628,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRRC2C-1	chr1:171595594-171595732	XLOC_000462
2	lnc-PRRC2C-1	chr1:171584011-171584145	XLOC_000462
3	lnc-PRRC2C-1	chr1:171592981-171593241	XLOC_000462
4	lnc-PRRC2C-1	chr1:171592981-171593118	XLOC_000462
5	lnc-PRRC2C-1	chr1:171591383-171591472	XLOC_000462

No data

Extended variants
information (count: 1044 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1044 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10082212	chr1:171578076-171578077	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs183207766	chr1:171578081-171578082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186016833	chr1:171578082-171578083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547784690	chr1:171578090-171578091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs235899	chr1:171578114-171578115	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs536892480	chr1:171578141-171578142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555189733	chr1:171578206-171578207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192084391	chr1:171578328-171578329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372085819	chr1:171578337-171578338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10081989	chr1:171578342-171578343	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs184124482	chr1:171578356-171578357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539897961	chr1:171578373-171578374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376369116	chr1:171578377-171578378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188583117	chr1:171578397-171578398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576775284	chr1:171578448-171578449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192723150	chr1:171578452-171578453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182164865	chr1:171578458-171578459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187182609	chr1:171578469-171578470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35016611	chr1:171578524-171578525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs235900	chr1:171578532-171578533	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs545878133	chr1:171578541-171578542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144859307	chr1:171578584-171578585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530590869	chr1:171578591-171578592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549878522	chr1:171578622-171578623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556100325	chr1:171578721-171578722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565340010	chr1:171578752-171578753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572774820	chr1:171578847-171578848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191588982	chr1:171578904-171578905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535276324	chr1:171578918-171578919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34173518	chr1:171578957-171578958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547765452	chr1:171578960-171578961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558368220	chr1:171578974-171578975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566284043	chr1:171579070-171579071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533546303	chr1:171579124-171579125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577693477	chr1:171579127-171579128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536928161	chr1:171579164-171579165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7536514	chr1:171579170-171579171	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs570282570	chr1:171579246-171579247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184453221	chr1:171579283-171579284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558375170	chr1:171579340-171579341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs36043022	chr1:171579363-171579364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs117972026	chr1:171579370-171579371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534363416	chr1:171579371-171579372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146765795	chr1:171579375-171579376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188994747	chr1:171579442-171579443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192849920	chr1:171579451-171579452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528528024	chr1:171579490-171579491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs79243075	chr1:171579540-171579541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185704357	chr1:171579574-171579575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs140337233	chr1:171579616-171579617	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	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
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	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
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171573200-171579600	Weak transcription	Adipose Nuclei	Adipose
2	chr1:171576000-171579600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:171578800-171579000	Weak transcription	GM12878-XiMat	blood
4	chr1:171579000-171581000	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr1:171579200-171581200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:171579400-171580000	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr1:171579600-171580000	Enhancers	Adipose Nuclei	Adipose
8	chr1:171579600-171580000	Enhancers	K562	blood
9	chr1:171579600-171580200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:171579600-171580800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:171580000-171583800	Weak transcription	K562	blood
12	chr1:171580400-171580600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:171580600-171580800	Weak transcription	GM12878-XiMat	blood
14	chr1:171580600-171580800	Enhancers	NHDF-Ad	bronchial
15	chr1:171582200-171582800	Enhancers	HepG2	liver
16	chr1:171583600-171583800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:171583600-171584600	Enhancers	GM12878-XiMat	blood
18	chr1:171583800-171584600	Enhancers	K562	blood
19	chr1:171584600-171585600	Weak transcription	GM12878-XiMat	blood
20	chr1:171585600-171586200	Enhancers	GM12878-XiMat	blood
21	chr1:171587000-171587200	Bivalent Enhancer	K562	blood
22	chr1:171589000-171591200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr1:171590200-171591600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr1:171591000-171591400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr1:171591000-171591600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr1:171591000-171591800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr1:171591000-171591800	Enhancers	K562	blood
28	chr1:171591000-171592000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr1:171591200-171591600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr1:171591200-171591800	Enhancers	H1 Cell Line	embryonic stem cell
31	chr1:171591200-171591800	Enhancers	H9 Cell Line	embryonic stem cell
32	chr1:171591200-171591800	Enhancers	Fetal Kidney	kidney
33	chr1:171591400-171592600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr1:171591600-171592600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr1:171591800-171592200	Weak transcription	K562	blood
36	chr1:171591800-171592800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr1:171591800-171592800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr1:171591800-171592800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr1:171592000-171592400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr1:171592200-171593400	Enhancers	K562	blood
41	chr1:171592400-171593200	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr1:171592600-171593200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr1:171592800-171593000	Enhancers	H1 Cell Line	embryonic stem cell
44	chr1:171592800-171593000	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr1:171592800-171593200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr1:171592800-171593400	Enhancers	H9 Cell Line	embryonic stem cell
47	chr1:171593000-171593200	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr1:171593200-171599400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr1:171594400-171595000	Enhancers	GM12878-XiMat	blood
50	chr1:171597600-171599000	Enhancers	HepG2	liver

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