Variant report

Variant	nsv946497
Chromosome Location	chr1:169267265-169268579
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:169265989..169270734-chr1:169271559..169276402,6	K562	blood:
2	chr1:169266400..169268623-chr1:169277324..169279302,2	K562	blood:
3	chr1:169267146..169270567-chr1:169272063..169277859,6	K562	blood:

Variant related genes	Relation type
ENSG00000143156	chromatin interactions

Extended variants
information (count: 50 )
Associated
traits (count: 93 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537535731	chr1:169267403-169267404	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs115817938	chr1:169267405-169267406	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs2211017	chr1:169267422-169267423	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs371391126	chr1:169267425-169267426	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs532449072	chr1:169267459-169267460	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs551691578	chr1:169267472-169267473	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs566809839	chr1:169267473-169267474	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs551419162	chr1:169267498-169267499	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs12031371	chr1:169267591-169267592	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs567217556	chr1:169267592-169267593	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs537947877	chr1:169267593-169267594	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs556031119	chr1:169267599-169267600	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs141216207	chr1:169267600-169267601	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs538279520	chr1:169267695-169267696	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs150288461	chr1:169267703-169267704	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs572426799	chr1:169267713-169267714	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs189135327	chr1:169267766-169267767	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs370576778	chr1:169267769-169267770	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs374607988	chr1:169267774-169267775	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs199705261	chr1:169267816-169267817	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs143907031	chr1:169267827-169267828	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs148704057	chr1:169267828-169267829	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs570170121	chr1:169267884-169267885	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs543896500	chr1:169267885-169267886	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs139755731	chr1:169267888-169267889	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs376824095	chr1:169267954-169267955	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs144536973	chr1:169267988-169267989	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs377403791	chr1:169267993-169267994	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs140135005	chr1:169267994-169267995	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs201804696	chr1:169268007-169268008	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs374614839	chr1:169268014-169268015	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs368658353	chr1:169268016-169268017	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs57776592	chr1:169268023-169268024	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs372996352	chr1:169268063-169268064	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs527601682	chr1:169268064-169268065	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs549160505	chr1:169268076-169268077	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs12116683	chr1:169268077-169268078	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs531444238	chr1:169268103-169268104	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs370979958	chr1:169268120-169268121	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs112300424	chr1:169268188-169268189	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs113934951	chr1:169268207-169268208	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs571279673	chr1:169268233-169268234	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs185817034	chr1:169268306-169268307	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs535312966	chr1:169268360-169268361	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs376852355	chr1:169268385-169268386	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs558060264	chr1:169268410-169268411	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs577035668	chr1:169268508-169268509	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs3835448	chr1:169268510-169268511	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs397818023	chr1:169268520-169268521	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs201301492	chr1:169268521-169268522	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169251400-169271400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:169252800-169278600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr1:169252800-169278800	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr1:169253400-169270800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:169253600-169280600	Weak transcription	Fetal Kidney	kidney
6	chr1:169254000-169274800	Weak transcription	Ovary	ovary
7	chr1:169254800-169268600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:169254800-169281000	Weak transcription	Dnd41	blood
9	chr1:169256800-169271600	Weak transcription	Primary B cells from cord blood	blood
10	chr1:169256800-169278600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr1:169257600-169268600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:169257600-169284800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:169257800-169281200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:169258600-169271200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:169258600-169276400	Weak transcription	HSMM	muscle
16	chr1:169258800-169274600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:169258800-169277400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:169259200-169278600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:169259400-169274800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr1:169259400-169278600	Weak transcription	Adipose Nuclei	Adipose
21	chr1:169259600-169278600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:169259600-169294400	Weak transcription	Pancreas	Pancrea
23	chr1:169260400-169310400	Weak transcription	Fetal Stomach	stomach
24	chr1:169260600-169278800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr1:169262400-169271400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:169262800-169274600	Weak transcription	Liver	Liver
27	chr1:169262800-169278600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr1:169263000-169278600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr1:169263600-169267600	Weak transcription	Fetal Brain Male	brain
30	chr1:169264000-169281400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr1:169264200-169269800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:169264200-169278600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr1:169264400-169271600	Weak transcription	Psoas Muscle	Psoas
34	chr1:169264400-169294400	Weak transcription	Left Ventricle	heart
35	chr1:169265000-169278600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr1:169265000-169320400	Weak transcription	Aorta	Aorta
37	chr1:169265200-169272800	Weak transcription	HepG2	liver
38	chr1:169265200-169277200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:169265200-169278400	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr1:169265200-169281200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:169265400-169281200	Weak transcription	NHDF-Ad	bronchial
42	chr1:169265600-169267800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr1:169265800-169281000	Weak transcription	Fetal Intestine Large	intestine
44	chr1:169266200-169278600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr1:169266200-169280200	Weak transcription	Fetal Muscle Leg	muscle
46	chr1:169266600-169267800	Strong transcription	Primary T cells from cord blood	blood
47	chr1:169266600-169268000	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr1:169266600-169269400	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr1:169266800-169269400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:169267000-169268600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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