Variant report

Variant	nsv872533
Chromosome Location	chr1:169490401-169508576
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:37)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:169484527..169487185-chr1:169488820..169490773,2	K562	blood:
2	chr1:169453358..169456448-chr1:169507622..169509906,3	MCF-7	breast:
3	chr1:169449894..169459462-chr1:169475885..169501963,75	MCF-7	breast:
4	chr1:169483273..169484944-chr1:169493711..169496257,2	MCF-7	breast:
5	chr1:169471872..169473392-chr1:169496086..169498392,2	MCF-7	breast:
6	chr1:169449555..169458933-chr1:169508181..169519645,22	MCF-7	breast:
7	chr1:169477985..169481647-chr1:169506965..169511270,5	MCF-7	breast:
8	chr1:169347200..169349790-chr1:169495385..169498063,2	MCF-7	breast:
9	chr1:169454264..169456897-chr1:169495447..169498143,3	K562	blood:
10	chr1:169453945..169456967-chr1:169506967..169510528,4	K562	blood:
11	chr1:169461099..169462759-chr1:169496804..169499532,2	MCF-7	breast:
12	chr1:169478952..169480932-chr1:169498032..169500995,2	MCF-7	breast:
13	chr1:169486047..169488375-chr1:169489755..169492077,3	MCF-7	breast:
14	chr1:169490192..169493609-chr1:169495804..169500257,7	MCF-7	breast:
15	chr1:169480439..169483097-chr1:169493507..169495167,2	MCF-7	breast:
16	chr1:169475721..169488506-chr1:169493331..169501885,21	MCF-7	breast:
17	chr1:169454264..169456422-chr1:169495447..169500944,4	K562	blood:
18	chr1:169460825..169464071-chr1:169495499..169498354,3	MCF-7	breast:
19	chr1:169352595..169354140-chr1:169494261..169496429,2	MCF-7	breast:
20	chr1:169488300..169490005-chr1:169506177..169508361,2	MCF-7	breast:
21	chr1:169463786..169466732-chr1:169496061..169498768,2	MCF-7	breast:
22	chr1:169452932..169456570-chr1:169504237..169506077,4	MCF-7	breast:
23	chr1:169447411..169449419-chr1:169497697..169499792,2	MCF-7	breast:
24	chr1:169485353..169488291-chr1:169497708..169499497,2	K562	blood:
25	chr1:169453945..169456967-chr1:169507929..169510528,3	K562	blood:
26	chr1:169445664..169448576-chr1:169507700..169509701,2	MCF-7	breast:
27	chr1:169454448..169456119-chr1:169499444..169502094,2	K562	blood:
28	chr1:169464842..169466756-chr1:169497919..169499478,2	MCF-7	breast:
29	chr1:169454600..169456893-chr1:169491518..169494069,2	MCF-7	breast:
30	chr1:169454595..169456644-chr1:169503532..169507599,4	MCF-7	breast:
31	chr1:169480009..169482936-chr1:169495810..169499823,3	K562	blood:
32	chr1:169481912..169483495-chr1:169489878..169491578,2	MCF-7	breast:
33	chr1:169486560..169487382-chr1:169498336..169499053,4	MCF-7	breast:
34	chr1:169453628..169456560-chr1:169492316..169494236,2	K562	blood:
35	chr1:169485665..169489624-chr1:169491207..169493940,4	K562	blood:
36	chr1:169490192..169493609-chr1:169495804..169500257,7	MCF-7	breast:
37	chr1:169452411..169456753-chr1:169494976..169501006,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000198734	chromatin interactions
ENSG00000213062	chromatin interactions
ENSG00000117479	chromatin interactions

Extended variants
information (count: 676 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:676 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6682179	chr1:169490401-169490402	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs139020459	chr1:169490462-169490463	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs9332655	chr1:169490592-169490593	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs9332654	chr1:169490601-169490602	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs548348056	chr1:169490610-169490611	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs570248355	chr1:169490624-169490625	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs12139107	chr1:169490652-169490653	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs149461791	chr1:169490670-169490671	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs552644407	chr1:169490677-169490678	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs570747534	chr1:169490705-169490706	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs75992723	chr1:169490731-169490732	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs183366327	chr1:169490756-169490757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs565950043	chr1:169490767-169490768	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs9332653	chr1:169490772-169490773	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs201622045	chr1:169490787-169490788	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs576186193	chr1:169490788-169490789	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs541129776	chr1:169490796-169490797	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs376955741	chr1:169490852-169490853	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs377495690	chr1:169490853-169490854	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs398089002	chr1:169490870-169490871	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs12749055	chr1:169490872-169490873	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs35651599	chr1:169490876-169490877	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs543146539	chr1:169490882-169490883	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs564216274	chr1:169490883-169490884	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs187514755	chr1:169490896-169490897	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs576750798	chr1:169490919-169490920	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs540655759	chr1:169490928-169490929	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs558948387	chr1:169490934-169490935	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs192486677	chr1:169490952-169490953	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs549835079	chr1:169491008-169491009	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs9332652	chr1:169491021-169491022	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs397818055	chr1:169491029-169491030	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs370366327	chr1:169491048-169491049	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs374671895	chr1:169491084-169491085	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs370743901	chr1:169491093-169491094	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs531183322	chr1:169491108-169491109	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs144826311	chr1:169491109-169491110	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs9332651	chr1:169491149-169491150	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs200904489	chr1:169491153-169491154	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs9332650	chr1:169491164-169491165	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs528617161	chr1:169491177-169491178	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs9332649	chr1:169491179-169491180	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs183080011	chr1:169491252-169491253	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs139761528	chr1:169491277-169491278	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs554891956	chr1:169491288-169491289	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs12239964	chr1:169491331-169491332	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs373438372	chr1:169491334-169491335	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs187802664	chr1:169491346-169491347	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs192199193	chr1:169491469-169491470	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs576503885	chr1:169491513-169491514	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:262 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169481800-169493000	Strong transcription	Liver	Liver
2	chr1:169482600-169490800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr1:169483200-169495400	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr1:169483200-169496800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr1:169483800-169496800	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr1:169484200-169494400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:169484800-169501000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:169485400-169510600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr1:169486600-169494400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:169487000-169490600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:169487400-169501000	Weak transcription	Right Ventricle	heart
12	chr1:169488000-169492800	Weak transcription	Hela-S3	cervix
13	chr1:169488000-169493000	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr1:169489800-169492000	Strong transcription	Placenta	Placenta
15	chr1:169489800-169494600	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr1:169490200-169490600	Enhancers	Fetal Intestine Small	intestine
17	chr1:169490200-169490600	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr1:169490200-169490800	Enhancers	Stomach Mucosa	stomach
19	chr1:169490200-169491200	Enhancers	Small Intestine	intestine
20	chr1:169490400-169490800	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr1:169490400-169490800	Enhancers	Pancreas	Pancrea
22	chr1:169490400-169490800	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr1:169490400-169490800	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr1:169490400-169490800	Genic enhancers	HepG2	liver
25	chr1:169490400-169491200	Enhancers	Fetal Intestine Large	intestine
26	chr1:169490600-169490800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:169490600-169496200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr1:169490800-169491600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr1:169490800-169492400	Weak transcription	Stomach Mucosa	stomach
30	chr1:169490800-169492600	Weak transcription	HepG2	liver
31	chr1:169490800-169494600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr1:169490800-169496200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr1:169490800-169496800	Weak transcription	Pancreas	Pancrea
34	chr1:169490800-169496800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr1:169491200-169491800	Weak transcription	Fetal Intestine Large	intestine
36	chr1:169491200-169497000	Weak transcription	Small Intestine	intestine
37	chr1:169491600-169500800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr1:169492000-169493000	Weak transcription	Placenta	Placenta
39	chr1:169492000-169499800	Weak transcription	Left Ventricle	heart
40	chr1:169492400-169493600	Enhancers	Stomach Mucosa	stomach
41	chr1:169492600-169493200	Strong transcription	HepG2	liver
42	chr1:169492800-169495400	Enhancers	Hela-S3	cervix
43	chr1:169493000-169494000	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr1:169493000-169494000	Strong transcription	Placenta	Placenta
45	chr1:169493000-169496000	Genic enhancers	Liver	Liver
46	chr1:169493200-169494000	Genic enhancers	HepG2	liver
47	chr1:169493600-169494800	Weak transcription	Stomach Mucosa	stomach
48	chr1:169494000-169496200	Weak transcription	Placenta	Placenta
49	chr1:169494000-169496800	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr1:169494000-169502800	Strong transcription	HepG2	liver

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