Variant report

Variant	nsv947448
Chromosome Location	chr1:169216666-169239767
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:169210444..169212042-chr1:169215118..169217438,2	K562	blood:

Extended variants
information (count: 805 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:805 , 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	rs369568492	chr1:169216669-169216670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555074466	chr1:169216672-169216673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372779589	chr1:169216699-169216700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs74125220	chr1:169216722-169216723	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs565937485	chr1:169216740-169216741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571959949	chr1:169216758-169216759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529727926	chr1:169216760-169216761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144460044	chr1:169216817-169216818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569761129	chr1:169216871-169216872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12130858	chr1:169216872-169216873	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs559145480	chr1:169216893-169216894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557667291	chr1:169216910-169216911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112703106	chr1:169216920-169216921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534844187	chr1:169216927-169216928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145507215	chr1:169216932-169216933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12123168	chr1:169216937-169216938	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs183999902	chr1:169216956-169216957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188894395	chr1:169217002-169217003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557059448	chr1:169217014-169217015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575729700	chr1:169217033-169217034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533050913	chr1:169217061-169217062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142497646	chr1:169217121-169217122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564556162	chr1:169217138-169217139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532354983	chr1:169217163-169217164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548672859	chr1:169217174-169217175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541190225	chr1:169217187-169217188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529994249	chr1:169217188-169217189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548202311	chr1:169217205-169217206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569539979	chr1:169217227-169217228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530678142	chr1:169217268-169217269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150936411	chr1:169217323-169217324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116825160	chr1:169217331-169217332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182069874	chr1:169217343-169217344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529969596	chr1:169217433-169217434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534904086	chr1:169217467-169217468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186663952	chr1:169217598-169217599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568446401	chr1:169217609-169217610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12724093	chr1:169217641-169217642	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs191564571	chr1:169217690-169217691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575551297	chr1:169217728-169217729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539777621	chr1:169217776-169217777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11584076	chr1:169217778-169217779	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs112906595	chr1:169217800-169217801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201172764	chr1:169217818-169217819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs61808871	chr1:169217827-169217828	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs374399502	chr1:169217955-169217956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs61808872	chr1:169218029-169218030	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs145902110	chr1:169218030-169218031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138376626	chr1:169218079-169218080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541754369	chr1:169218111-169218112	Weak transcription	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
Glioblastoma multiforme	21080181	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
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
Breast cancer	21509527	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169172600-169227000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:169215200-169219000	Weak transcription	A549	lung
3	chr1:169216200-169219600	Weak transcription	Liver	Liver
4	chr1:169218200-169218800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr1:169218600-169220600	Enhancers	Hela-S3	cervix
6	chr1:169218800-169219200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr1:169218800-169219200	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr1:169219000-169219800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr1:169219000-169219800	Enhancers	A549	lung
10	chr1:169219000-169226400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:169219200-169219400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:169219200-169220000	Enhancers	HUVEC	blood vessel
13	chr1:169219200-169220800	Enhancers	HepG2	liver
14	chr1:169219400-169219800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:169219400-169219800	Enhancers	NHEK	skin
16	chr1:169219400-169227000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:169219600-169220600	Enhancers	Liver	Liver
18	chr1:169219800-169220000	Flanking Active TSS	A549	lung
19	chr1:169220000-169220200	Enhancers	A549	lung
20	chr1:169220000-169220400	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr1:169220000-169229800	Weak transcription	HUVEC	blood vessel
22	chr1:169220600-169230000	Weak transcription	Liver	Liver
23	chr1:169224800-169227400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:169225000-169227000	Weak transcription	Fetal Kidney	kidney
25	chr1:169225000-169229800	Weak transcription	Primary T cells from cord blood	blood
26	chr1:169225400-169227000	Weak transcription	Primary B cells from cord blood	blood
27	chr1:169226400-169227400	ZNF genes & repeats	Fetal Stomach	stomach
28	chr1:169226400-169227600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:169226400-169227600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:169226400-169227600	ZNF genes & repeats	Fetal Intestine Small	intestine
31	chr1:169226800-169228200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:169227000-169227600	ZNF genes & repeats	Primary B cells from cord blood	blood
33	chr1:169227000-169227600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:169227000-169227600	Strong transcription	Fetal Kidney	kidney
35	chr1:169227000-169228400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:169227200-169227400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:169227200-169227600	ZNF genes & repeats	Fetal Intestine Large	intestine
38	chr1:169227200-169227800	ZNF genes & repeats	Fetal Lung	lung
39	chr1:169227200-169227800	Weak transcription	Lung	lung
40	chr1:169227200-169228200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
41	chr1:169227200-169231200	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr1:169227400-169227600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:169227600-169231000	Weak transcription	Primary B cells from cord blood	blood
44	chr1:169227600-169231800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:169227600-169233000	Weak transcription	Fetal Kidney	kidney
46	chr1:169227600-169257400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:169228200-169228400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:169228200-169229800	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr1:169228400-169230400	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr1:169228400-169230600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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