Variant report

Variant	nsv872535
Chromosome Location	chr1:169535918-169538842
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	chr1:169529558..169531629-chr1:169534485..169537061,2	K562	blood:
2	chr1:169531774..169534548-chr1:169536079..169538530,2	K562	blood:

Extended variants
information (count: 104 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12024736	chr1:169535918-169535919	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549356163	chr1:169535958-169535959	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192054883	chr1:169535974-169535975	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7553699	chr1:169536012-169536013	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs528631559	chr1:169536053-169536054	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs74581078	chr1:169536065-169536066	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184649937	chr1:169536103-169536104	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551923304	chr1:169536119-169536120	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529265470	chr1:169536141-169536142	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571843277	chr1:169536160-169536161	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2213869	chr1:169536167-169536168	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs538209931	chr1:169536183-169536184	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569942516	chr1:169536202-169536203	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7542088	chr1:169536240-169536241	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs151246804	chr1:169536252-169536253	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570432953	chr1:169536254-169536255	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7542345	chr1:169536338-169536339	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs35109380	chr1:169536349-169536350	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189412729	chr1:169536429-169536430	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs7542281	chr1:169536439-169536440	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs376589730	chr1:169536443-169536444	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368230926	chr1:169536484-169536485	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2187954	chr1:169536485-169536486	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs9332556	chr1:169536502-169536503	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs9332555	chr1:169536540-169536541	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546391541	chr1:169536621-169536622	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35536147	chr1:169536622-169536623	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139303643	chr1:169536630-169536631	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2187955	chr1:169536650-169536651	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs536132034	chr1:169536675-169536676	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552896498	chr1:169536685-169536686	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543616350	chr1:169536714-169536715	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540294276	chr1:169536738-169536739	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs200940030	chr1:169536781-169536782	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561868875	chr1:169536787-169536788	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529209505	chr1:169536815-169536816	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs550602083	chr1:169536837-169536838	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572932373	chr1:169536859-169536860	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs9332554	chr1:169536901-169536902	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs530864430	chr1:169536902-169536903	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182566694	chr1:169536914-169536915	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557939201	chr1:169536944-169536945	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570593806	chr1:169536979-169536980	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528319362	chr1:169536980-169536981	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs9332553	chr1:169537010-169537011	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs9332552	chr1:169537036-169537037	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs535431359	chr1:169537045-169537046	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556962671	chr1:169537093-169537094	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569425846	chr1:169537117-169537118	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs78775894	chr1:169537199-169537200	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169506200-169542800	Weak transcription	Right Ventricle	heart
2	chr1:169524600-169541800	Weak transcription	Placenta	Placenta
3	chr1:169530200-169539000	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr1:169533200-169551600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr1:169533400-169544600	Enhancers	Stomach Mucosa	stomach
6	chr1:169534000-169541400	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr1:169534200-169537000	Genic enhancers	HepG2	liver
8	chr1:169534400-169536000	Enhancers	Duodenum Mucosa	Duodenum
9	chr1:169534600-169537400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:169534800-169538800	Enhancers	Liver	Liver
11	chr1:169535400-169540200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:169535600-169536000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr1:169535600-169538000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:169535600-169539400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr1:169535800-169541600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr1:169536000-169536200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:169536000-169539000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr1:169536200-169536400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:169536200-169536400	Enhancers	Left Ventricle	heart
20	chr1:169536400-169540400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:169536400-169543600	Weak transcription	Left Ventricle	heart
22	chr1:169537000-169538400	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr1:169537000-169539000	Enhancers	HepG2	liver
24	chr1:169537400-169537800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:169537800-169538000	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr1:169537800-169538200	Enhancers	Brain Hippocampus Middle	brain
27	chr1:169537800-169539200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:169538000-169538200	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr1:169538000-169538600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:169538000-169539000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr1:169538000-169539800	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr1:169538200-169538600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr1:169538400-169538800	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr1:169538400-169539800	Enhancers	Fetal Intestine Large	intestine
35	chr1:169538600-169539200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:169538600-169539800	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr1:169538800-169539400	Flanking Active TSS	Liver	Liver
38	chr1:169538800-169539800	Enhancers	Pancreatic Islets	Pancreatic Islet

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