Variant report

Variant	nsv946498
Chromosome Location	chr1:169292477-169293729
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:169292800-169292950	GM12873	blood:	n/a	n/a
2	MYC	chr1:169293136-169293199	MCF-7	breast:	n/a	n/a
3	POLR2A	chr1:169293132-169293181	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:169281102..169283906-chr1:169293701..169295205,2	K562	blood:
2	chr1:169284485..169288949-chr1:169289510..169292758,5	K562	blood:

Variant related genes	Relation type
NME7	TF binding region

Extended variants
information (count: 60 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369065175	chr1:169292488-169292489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs201299047	chr1:169292501-169292502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141747474	chr1:169292502-169292503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563279223	chr1:169292503-169292504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150210914	chr1:169292519-169292520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528911019	chr1:169292543-169292544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs117580104	chr1:169292573-169292574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140505485	chr1:169292575-169292576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542881006	chr1:169292613-169292614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184848736	chr1:169292616-169292617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77253593	chr1:169292621-169292622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543194411	chr1:169292669-169292670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564895059	chr1:169292733-169292734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576794531	chr1:169292746-169292747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541729320	chr1:169292772-169292773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541234981	chr1:169292798-169292799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560103584	chr1:169292807-169292808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530288631	chr1:169292812-169292813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528247195	chr1:169292816-169292817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10800432	chr1:169292840-169292841	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs139588126	chr1:169292861-169292862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187818169	chr1:169292908-169292909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531021698	chr1:169292915-169292916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11805562	chr1:169292916-169292917	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs142496796	chr1:169292934-169292935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534726199	chr1:169292945-169292946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111753509	chr1:169292994-169292995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565643299	chr1:169292996-169292997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533446383	chr1:169293015-169293016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373872515	chr1:169293071-169293072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533771437	chr1:169293074-169293075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs397981889	chr1:169293099-169293100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559345115	chr1:169293117-169293118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191696691	chr1:169293132-169293133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184240268	chr1:169293152-169293153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112525548	chr1:169293179-169293180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10158861	chr1:169293214-169293215	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs576737928	chr1:169293216-169293217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111673464	chr1:169293217-169293218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
40	rs553656107	chr1:169293219-169293220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146647016	chr1:169293273-169293274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542583625	chr1:169293275-169293276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563902031	chr1:169293313-169293314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531038671	chr1:169293344-169293345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530004929	chr1:169293345-169293346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189003691	chr1:169293396-169293397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141340556	chr1:169293420-169293421	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs546601024	chr1:169293470-169293471	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs568156856	chr1:169293483-169293484	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs201004112	chr1:169293521-169293522	Enhancers Weak transcription Active TSS	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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169259600-169294400	Weak transcription	Pancreas	Pancrea
2	chr1:169260400-169310400	Weak transcription	Fetal Stomach	stomach
3	chr1:169264400-169294400	Weak transcription	Left Ventricle	heart
4	chr1:169265000-169320400	Weak transcription	Aorta	Aorta
5	chr1:169270200-169336400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr1:169271800-169297200	Weak transcription	Psoas Muscle	Psoas
7	chr1:169273600-169312400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:169276800-169304600	Weak transcription	Ovary	ovary
9	chr1:169277000-169294600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:169277000-169306200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:169279000-169293800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:169279000-169295600	Weak transcription	Adipose Nuclei	Adipose
13	chr1:169279200-169296000	Weak transcription	Primary T cells from cord blood	blood
14	chr1:169280200-169304600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:169281600-169294400	Weak transcription	Fetal Intestine Small	intestine
16	chr1:169281600-169294400	Weak transcription	Lung	lung
17	chr1:169281600-169306600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:169281800-169295400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr1:169282000-169293800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:169282000-169294600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr1:169282000-169306800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:169282200-169293600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:169282200-169295800	Weak transcription	NHEK	skin
24	chr1:169282400-169295600	Weak transcription	NH-A	brain
25	chr1:169283400-169293400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:169286200-169295400	Weak transcription	HUVEC	blood vessel
27	chr1:169287400-169294400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:169288600-169297200	Weak transcription	Small Intestine	intestine
29	chr1:169291000-169295600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:169291000-169295600	Weak transcription	HMEC	breast
31	chr1:169291000-169295800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:169291000-169296200	Weak transcription	NHDF-Ad	bronchial
33	chr1:169291000-169313200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:169291200-169293400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:169291200-169296000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:169291400-169293400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:169291400-169293600	Weak transcription	A549	lung
38	chr1:169291400-169296000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr1:169291400-169296000	Weak transcription	Osteobl	bone
40	chr1:169291600-169295600	Weak transcription	Hela-S3	cervix
41	chr1:169292400-169294800	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr1:169292800-169293200	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr1:169292800-169294000	Enhancers	H1 Cell Line	embryonic stem cell
44	chr1:169293200-169293400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr1:169293400-169293600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:169293400-169293800	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr1:169293400-169294200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:169293400-169295400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:169293600-169294000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:169293600-169294000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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