Variant report

Variant	nsv946458
Chromosome Location	chr1:174149182-174160829
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:27)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:174151474..174153270-chr1:174153470..174155580,2	MCF-7	breast:
2	chr1:174151474..174153270-chr1:174153470..174155580,2	MCF-7	breast:
3	chr1:174145331..174146916-chr1:174149892..174152553,2	K562	blood:
4	chr1:174127794..174129583-chr1:174152496..174155394,2	K562	blood:
5	chr1:174152071..174154187-chr1:174154617..174157580,2	K562	blood:
6	chr1:174149972..174151537-chr1:174153193..174155845,2	K562	blood:
7	chr1:174148713..174151052-chr1:174207157..174208937,2	MCF-7	breast:
8	chr1:173833693..173837316-chr1:174151186..174153967,3	MCF-7	breast:
9	chr1:173835071..173837781-chr1:174150428..174152457,2	K562	blood:
10	chr1:174126773..174130158-chr1:174148620..174150674,4	K562	blood:
11	chr1:174128241..174130281-chr1:174157762..174160299,2	K562	blood:
12	chr1:174158960..174161694-chr1:174164662..174167169,2	K562	blood:
13	chr1:174149972..174151537-chr1:174153193..174155845,2	K562	blood:
14	chr1:174149924..174151472-chr1:174154345..174156878,2	K562	blood:
15	chr1:174134604..174137057-chr1:174160693..174163339,2	K562	blood:
16	chr1:174156183..174157757-chr1:174183127..174185978,2	K562	blood:
17	chr1:174157753..174160187-chr1:174164644..174167517,2	MCF-7	breast:
18	chr1:174152071..174154187-chr1:174154617..174157580,2	K562	blood:
19	chr1:174134591..174137742-chr1:174149123..174151486,3	K562	blood:
20	chr1:174159869..174162419-chr1:174173364..174176167,2	K562	blood:
21	chr1:174152447..174154110-chr1:174154958..174156995,2	K562	blood:
22	chr1:174127315..174129542-chr1:174157922..174159805,2	K562	blood:
23	chr1:174152447..174154110-chr1:174154958..174156995,2	K562	blood:
24	chr1:174149924..174151472-chr1:174154345..174156878,2	K562	blood:
25	chr1:174138379..174140424-chr1:174154123..174156234,2	K562	blood:
26	chr1:174122708..174125565-chr1:174154961..174157187,2	K562	blood:
27	chr1:174128297..174130093-chr1:174149441..174151637,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RC3H1-3	chr1:174156215-174156272	NONHSAT007727

No data

Variant related genes	Relation type
ENSG00000152061	chromatin interactions
ENSG00000234741	chromatin interactions
ENSG00000208317	chromatin interactions
ENSG00000227373	chromatin interactions
ENSG00000185278	chromatin interactions

Extended variants
information (count: 396 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:396 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75087784	chr1:174149224-174149225	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs181070999	chr1:174149260-174149261	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs534753692	chr1:174149272-174149273	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs554225133	chr1:174149274-174149275	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs16846728	chr1:174149291-174149292	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs536819957	chr1:174149318-174149319	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs186369123	chr1:174149356-174149357	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs10912740	chr1:174149362-174149363	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs545880320	chr1:174149382-174149383	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs553378357	chr1:174149392-174149393	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs573139266	chr1:174149398-174149399	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs542336992	chr1:174149451-174149452	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs724889	chr1:174149464-174149465	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs79042941	chr1:174149530-174149531	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs544774452	chr1:174149534-174149535	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs724888	chr1:174149541-174149542	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs9970118	chr1:174149562-174149563	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs533725297	chr1:174149566-174149567	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs35752660	chr1:174149569-174149570	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs542159881	chr1:174149685-174149686	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs546965679	chr1:174149694-174149695	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs140592638	chr1:174149723-174149724	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs528055746	chr1:174149733-174149734	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs114283818	chr1:174149758-174149759	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs567782963	chr1:174149768-174149769	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs561752637	chr1:174149769-174149770	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs186861829	chr1:174149824-174149825	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs369528476	chr1:174149846-174149847	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs560910126	chr1:174149849-174149850	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs550315209	chr1:174149850-174149851	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs191598476	chr1:174149870-174149871	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs575782394	chr1:174149884-174149885	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs539761645	chr1:174149894-174149895	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs368960670	chr1:174149987-174149988	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs552970407	chr1:174150043-174150044	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs573211461	chr1:174150082-174150083	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs535813207	chr1:174150110-174150111	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs371435866	chr1:174150115-174150116	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs181049697	chr1:174150119-174150120	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs544712271	chr1:174150129-174150130	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs546372704	chr1:174150167-174150168	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs73034906	chr1:174150178-174150179	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs185623245	chr1:174150234-174150235	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs138406790	chr1:174150258-174150259	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs560597196	chr1:174150291-174150292	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs189692018	chr1:174150300-174150301	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs547744460	chr1:174150344-174150345	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs182280210	chr1:174150352-174150353	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs530566320	chr1:174150354-174150355	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs188711858	chr1:174150372-174150373	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174129600-174164800	Weak transcription	Gastric	stomach
2	chr1:174129600-174173200	Weak transcription	Pancreas	Pancrea
3	chr1:174129800-174149600	Weak transcription	Aorta	Aorta
4	chr1:174130000-174157600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:174130800-174156600	Weak transcription	Primary T cells from cord blood	blood
6	chr1:174134800-174159800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:174136200-174150800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:174136400-174160000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:174137800-174155600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr1:174138400-174160000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr1:174139000-174159800	Weak transcription	Right Atrium	heart
12	chr1:174139400-174153800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:174141800-174151200	Weak transcription	Fetal Heart	heart
14	chr1:174142000-174153800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr1:174144000-174151200	Weak transcription	K562	blood
16	chr1:174144000-174151400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr1:174144000-174178200	Weak transcription	Left Ventricle	heart
18	chr1:174144200-174158000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:174145800-174150800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:174145800-174157600	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr1:174146200-174149200	Weak transcription	Fetal Intestine Small	intestine
22	chr1:174148800-174159600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr1:174149000-174150800	Weak transcription	GM12878-XiMat	blood
24	chr1:174149600-174149800	Enhancers	Aorta	Aorta
25	chr1:174150800-174151000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:174150800-174151600	Enhancers	Liver	Liver
27	chr1:174150800-174152000	Enhancers	GM12878-XiMat	blood
28	chr1:174150800-174152600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:174151000-174151400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr1:174151200-174151800	Enhancers	Fetal Heart	heart
31	chr1:174151200-174151800	Enhancers	K562	blood
32	chr1:174151400-174151800	Enhancers	Primary B cells from peripheral blood	blood
33	chr1:174151400-174152000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr1:174151600-174151800	Enhancers	HepG2	liver
35	chr1:174151800-174153800	Weak transcription	Fetal Heart	heart
36	chr1:174151800-174154000	Weak transcription	HepG2	liver
37	chr1:174151800-174159600	Weak transcription	K562	blood
38	chr1:174152000-174154000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr1:174152600-174152800	Weak transcription	GM12878-XiMat	blood
40	chr1:174153000-174155400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr1:174153800-174154000	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr1:174153800-174154200	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr1:174153800-174154200	Enhancers	Fetal Heart	heart
44	chr1:174154000-174154200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr1:174154000-174154400	Enhancers	HepG2	liver
46	chr1:174154200-174173600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr1:174155600-174155800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr1:174155800-174156400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr1:174157000-174157400	Weak transcription	Primary T cells from cord blood	blood
50	chr1:174157600-174158000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood

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