Variant report

Variant	nsv820717
Chromosome Location	chr1:169220418-169254128
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	chr1:169249538..169251657-chr1:169297595..169299857,2	MCF-7	breast:

Extended variants
information (count: 1317 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:1317 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11802143	chr1:169220420-169220421	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs191752849	chr1:169220424-169220425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181910806	chr1:169220435-169220436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34127028	chr1:169220436-169220437	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs554440643	chr1:169220477-169220478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs34577710	chr1:169220479-169220480	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs571613026	chr1:169220484-169220485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186999676	chr1:169220487-169220488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551137228	chr1:169220491-169220492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566461940	chr1:169220498-169220499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548648673	chr1:169220576-169220577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555115097	chr1:169220677-169220678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573582848	chr1:169220695-169220696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114445847	chr1:169220708-169220709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556239255	chr1:169220716-169220717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190705409	chr1:169220730-169220731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545646172	chr1:169220742-169220743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183355887	chr1:169220757-169220758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12740501	chr1:169220772-169220773	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs200998072	chr1:169220785-169220786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563070868	chr1:169220792-169220793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs57686493	chr1:169220798-169220799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs68062440	chr1:169220799-169220800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12029428	chr1:169220800-169220801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531743360	chr1:169220803-169220804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35295807	chr1:169220808-169220809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs63646560	chr1:169220810-169220811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs60929546	chr1:169220829-169220830	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs113064799	chr1:169220840-169220841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201859851	chr1:169220861-169220862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34829200	chr1:169220871-169220872	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs371608003	chr1:169220874-169220875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566325582	chr1:169220876-169220877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200603939	chr1:169220887-169220888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200949391	chr1:169220888-169220889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571476093	chr1:169220892-169220893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373367337	chr1:169220945-169220946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567413334	chr1:169220947-169220948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12039156	chr1:169220962-169220963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537870277	chr1:169220995-169220996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555863867	chr1:169221006-169221007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373414412	chr1:169221007-169221008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs59861850	chr1:169221046-169221047	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs554455071	chr1:169221063-169221064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111235755	chr1:169221134-169221135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs56698361	chr1:169221151-169221152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542816356	chr1:169221184-169221185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561645429	chr1:169221192-169221193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs28778909	chr1:169221202-169221203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543830651	chr1:169221222-169221223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169172600-169227000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:169218600-169220600	Enhancers	Hela-S3	cervix
3	chr1:169219000-169226400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:169219200-169220800	Enhancers	HepG2	liver
5	chr1:169219400-169227000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:169219600-169220600	Enhancers	Liver	Liver
7	chr1:169220000-169229800	Weak transcription	HUVEC	blood vessel
8	chr1:169220600-169230000	Weak transcription	Liver	Liver
9	chr1:169224800-169227400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:169225000-169227000	Weak transcription	Fetal Kidney	kidney
11	chr1:169225000-169229800	Weak transcription	Primary T cells from cord blood	blood
12	chr1:169225400-169227000	Weak transcription	Primary B cells from cord blood	blood
13	chr1:169226400-169227400	ZNF genes & repeats	Fetal Stomach	stomach
14	chr1:169226400-169227600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:169226400-169227600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:169226400-169227600	ZNF genes & repeats	Fetal Intestine Small	intestine
17	chr1:169226800-169228200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:169227000-169227600	ZNF genes & repeats	Primary B cells from cord blood	blood
19	chr1:169227000-169227600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:169227000-169227600	Strong transcription	Fetal Kidney	kidney
21	chr1:169227000-169228400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:169227200-169227400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:169227200-169227600	ZNF genes & repeats	Fetal Intestine Large	intestine
24	chr1:169227200-169227800	ZNF genes & repeats	Fetal Lung	lung
25	chr1:169227200-169227800	Weak transcription	Lung	lung
26	chr1:169227200-169228200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
27	chr1:169227200-169231200	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr1:169227400-169227600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:169227600-169231000	Weak transcription	Primary B cells from cord blood	blood
30	chr1:169227600-169231800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:169227600-169233000	Weak transcription	Fetal Kidney	kidney
32	chr1:169227600-169257400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:169228200-169228400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:169228200-169229800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr1:169228400-169230400	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr1:169228400-169230600	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr1:169228400-169230800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:169228400-169231000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:169228400-169257400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:169228600-169229200	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr1:169229000-169230200	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr1:169229000-169233000	Weak transcription	Brain Angular Gyrus	brain
43	chr1:169229200-169230400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr1:169229800-169230200	ZNF genes & repeats	Fetal Brain Female	brain
45	chr1:169229800-169230400	Enhancers	Primary hematopoietic stem cells	blood
46	chr1:169229800-169230400	Strong transcription	HUVEC	blood vessel
47	chr1:169229800-169232000	Strong transcription	Primary T cells from cord blood	blood
48	chr1:169229800-169232000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
49	chr1:169230400-169230800	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr1:169230400-169232200	Weak transcription	HUVEC	blood vessel

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