Variant report

Variant	esv3333755
Chromosome Location	chr1:172540179-172542427
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:172540565..172542685-chr1:172550671..172552538,2	K562	blood:
2	chr1:172501115..172503585-chr1:172541113..172543776,2	K562	blood:
3	chr1:172499376..172501724-chr1:172539037..172541418,2	K562	blood:
4	chr1:172499376..172501667-chr1:172538683..172540537,2	K562	blood:
5	chr1:172542019..172544781-chr1:172548161..172550127,2	K562	blood:
6	chr1:172536299..172538930-chr1:172539967..172542813,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000094975	chromatin interactions

Extended variants
information (count: 114 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575300580	chr1:172540246-172540247	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs539120581	chr1:172540259-172540260	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs575756947	chr1:172540279-172540280	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs148631241	chr1:172540291-172540292	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs142071248	chr1:172540328-172540329	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs538064461	chr1:172540330-172540331	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs541780717	chr1:172540333-172540334	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs560105434	chr1:172540343-172540344	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs575158019	chr1:172540347-172540348	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs542213299	chr1:172540353-172540354	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs563497332	chr1:172540356-172540357	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs531076747	chr1:172540371-172540372	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs552389742	chr1:172540430-172540431	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs368786420	chr1:172540433-172540434	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs563965757	chr1:172540434-172540435	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs528253834	chr1:172540453-172540454	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs374565118	chr1:172540460-172540461	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs568033151	chr1:172540490-172540491	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs574787145	chr1:172540537-172540538	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs368728478	chr1:172540540-172540541	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs550558697	chr1:172540544-172540545	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs568750927	chr1:172540556-172540557	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs187703516	chr1:172540559-172540560	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs377469289	chr1:172540567-172540568	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs113988327	chr1:172540606-172540607	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs572941864	chr1:172540608-172540609	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs111349064	chr1:172540611-172540612	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs111361392	chr1:172540619-172540620	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs113598430	chr1:172540626-172540627	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs575223452	chr1:172540647-172540648	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs201794132	chr1:172540653-172540654	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs182443134	chr1:172540671-172540672	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs201851219	chr1:172540731-172540732	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs12728896	chr1:172540785-172540786	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs111660992	chr1:172540847-172540848	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs370061788	chr1:172540886-172540887	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs12743647	chr1:172540889-172540890	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs12729188	chr1:172540935-172540936	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs12743798	chr1:172540936-172540937	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs12725218	chr1:172540951-172540952	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs12743810	chr1:172540954-172540955	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs577198332	chr1:172540963-172540964	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs193174949	chr1:172540974-172540975	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs184607808	chr1:172540976-172540977	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs531496089	chr1:172540979-172540980	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs188297144	chr1:172540984-172540985	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs12742636	chr1:172540998-172540999	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs12743833	chr1:172541001-172541002	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs12743941	chr1:172541008-172541009	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs183602762	chr1:172541025-172541026	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
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
Glioblastoma multiforme	21080181	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
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
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:261 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172511800-172557800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:172514200-172558800	Weak transcription	Small Intestine	intestine
3	chr1:172516800-172550200	Weak transcription	Fetal Heart	heart
4	chr1:172519200-172559000	Weak transcription	Psoas Muscle	Psoas
5	chr1:172519400-172571600	Weak transcription	Brain Angular Gyrus	brain
6	chr1:172521800-172540400	Strong transcription	Primary B cells from cord blood	blood
7	chr1:172521800-172560400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:172524000-172540400	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr1:172524800-172540400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr1:172525000-172540400	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr1:172526200-172540400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:172527000-172558000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr1:172527800-172550400	Weak transcription	Stomach Mucosa	stomach
14	chr1:172527800-172554600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:172528400-172543000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr1:172528400-172547800	Weak transcription	A549	lung
17	chr1:172531800-172540400	Strong transcription	Duodenum Mucosa	Duodenum
18	chr1:172532800-172540400	Strong transcription	Placenta	Placenta
19	chr1:172533000-172540400	Strong transcription	Adipose Nuclei	Adipose
20	chr1:172533200-172540200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:172533400-172540200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:172533400-172540400	Strong transcription	Primary B cells from peripheral blood	blood
23	chr1:172533600-172540200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:172534400-172540400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr1:172534800-172558000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr1:172535200-172547800	Weak transcription	Colon Smooth Muscle	Colon
27	chr1:172535200-172558000	Weak transcription	HSMMtube	muscle
28	chr1:172535400-172540200	Weak transcription	Esophagus	oesophagus
29	chr1:172535400-172554200	Weak transcription	NHEK	skin
30	chr1:172535400-172558000	Weak transcription	Left Ventricle	heart
31	chr1:172535400-172558000	Weak transcription	Right Ventricle	heart
32	chr1:172535400-172558200	Weak transcription	Brain Substantia Nigra	brain
33	chr1:172535600-172546400	Weak transcription	HepG2	liver
34	chr1:172535600-172558000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr1:172535600-172569200	Weak transcription	Gastric	stomach
36	chr1:172535800-172542400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:172536000-172558000	Weak transcription	Fetal Stomach	stomach
38	chr1:172536000-172565400	Weak transcription	Ovary	ovary
39	chr1:172536000-172565600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:172536000-172566000	Weak transcription	Aorta	Aorta
41	chr1:172536600-172540200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:172536600-172540400	Strong transcription	Liver	Liver
43	chr1:172536800-172540400	Strong transcription	HMEC	breast
44	chr1:172537000-172540200	Strong transcription	Brain Germinal Matrix	brain
45	chr1:172537000-172540400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:172537000-172540400	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr1:172537200-172540400	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr1:172537400-172565600	Weak transcription	Lung	lung
49	chr1:172537800-172540400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr1:172537800-172540400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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