Variant report

Variant	nsv548176
Chromosome Location	chr1:169232841-169253471
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: 834 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:834 , 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	rs12759617	chr1:169232841-169232842	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539314264	chr1:169232904-169232905	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs185213894	chr1:169232938-169232939	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs574983610	chr1:169232959-169232960	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs182921199	chr1:169233007-169233008	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs539178905	chr1:169233017-169233018	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs185812503	chr1:169233086-169233087	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs190627819	chr1:169233089-169233090	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs540884018	chr1:169233229-169233230	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs75876561	chr1:169233236-169233237	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs12725978	chr1:169233319-169233320	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs574436276	chr1:169233384-169233385	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs183181908	chr1:169233395-169233396	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs563110976	chr1:169233501-169233502	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs533443988	chr1:169233520-169233521	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs545194601	chr1:169233522-169233523	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs560505450	chr1:169233595-169233596	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs187520795	chr1:169233646-169233647	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs79800869	chr1:169233647-169233648	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs546824338	chr1:169233654-169233655	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs568011093	chr1:169233655-169233656	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs368332090	chr1:169233676-169233677	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs193043675	chr1:169233683-169233684	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs75050585	chr1:169233740-169233741	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs538082970	chr1:169233802-169233803	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs550342056	chr1:169233807-169233808	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs112706207	chr1:169233903-169233904	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs568737207	chr1:169234009-169234010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77775789	chr1:169234076-169234077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557582025	chr1:169234082-169234083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554676194	chr1:169234134-169234135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566418490	chr1:169234156-169234157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533551632	chr1:169234181-169234182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184108380	chr1:169234211-169234212	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574374610	chr1:169234255-169234256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76307848	chr1:169234259-169234260	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144874008	chr1:169234358-169234359	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs117442650	chr1:169234371-169234372	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs578227486	chr1:169234396-169234397	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372447826	chr1:169234420-169234421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574595904	chr1:169234465-169234466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76184063	chr1:169234559-169234560	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77764655	chr1:169234586-169234587	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187547679	chr1:169234607-169234608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201082616	chr1:169234652-169234653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4471312	chr1:169234654-169234655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577411842	chr1:169234657-169234658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560978393	chr1:169234659-169234660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147901656	chr1:169234710-169234711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550481414	chr1:169234725-169234726	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:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169227600-169233000	Weak transcription	Fetal Kidney	kidney
2	chr1:169227600-169257400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:169228400-169257400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:169229000-169233000	Weak transcription	Brain Angular Gyrus	brain
5	chr1:169230400-169235400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:169231000-169234000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:169232000-169234200	Weak transcription	Primary T cells from cord blood	blood
8	chr1:169233800-169234800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr1:169234200-169234600	Strong transcription	Primary T cells from cord blood	blood
10	chr1:169234600-169240800	Weak transcription	Primary T cells from cord blood	blood
11	chr1:169235000-169235400	Enhancers	HepG2	liver
12	chr1:169235200-169235400	ZNF genes & repeats	Fetal Intestine Large	intestine
13	chr1:169235200-169240200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:169235400-169240000	Weak transcription	Fetal Intestine Large	intestine
15	chr1:169235400-169240200	Weak transcription	HepG2	liver
16	chr1:169237800-169238000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
17	chr1:169238000-169240000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr1:169239600-169241000	Enhancers	Rectal Smooth Muscle	rectum
19	chr1:169239600-169241000	Enhancers	Stomach Mucosa	stomach
20	chr1:169240000-169240200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:169240000-169240800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:169240000-169240800	Enhancers	Colon Smooth Muscle	Colon
23	chr1:169240000-169241000	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr1:169240000-169241000	Enhancers	Fetal Intestine Large	intestine
25	chr1:169240000-169241000	Enhancers	Fetal Intestine Small	intestine
26	chr1:169240200-169240400	Enhancers	Liver	Liver
27	chr1:169240200-169240600	Genic enhancers	Rectal Mucosa Donor 31	rectum
28	chr1:169240200-169240800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:169240200-169240800	Enhancers	Fetal Heart	heart
30	chr1:169240200-169241800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:169240400-169240600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:169240400-169240600	Enhancers	HepG2	liver
33	chr1:169240400-169240800	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr1:169240400-169240800	Flanking Active TSS	Liver	Liver
35	chr1:169240400-169240800	Enhancers	Brain Hippocampus Middle	brain
36	chr1:169240400-169240800	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr1:169240400-169241000	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr1:169240400-169241000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr1:169240400-169241000	Enhancers	K562	blood
40	chr1:169240400-169241200	Enhancers	Fetal Lung	lung
41	chr1:169240600-169241000	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr1:169240600-169248600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:169240800-169241000	Enhancers	Liver	Liver
44	chr1:169240800-169241400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:169241000-169243000	Weak transcription	Fetal Intestine Small	intestine
46	chr1:169248600-169248800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:169249200-169255800	Weak transcription	Fetal Heart	heart
48	chr1:169251400-169271400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:169252000-169257200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:169252600-169256200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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