Variant report

Variant	nsv548196
Chromosome Location	chr1:174525135-174559121
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:174518114..174520798-chr1:174523440..174525540,2	MCF-7	breast:
2	chr1:174521191..174523406-chr1:174525648..174527204,2	MCF-7	breast:
3	chr1:174537431..174539369-chr1:174541884..174544062,2	K562	blood:
4	chr1:174532659..174534724-chr1:174536541..174539409,2	K562	blood:
5	chr1:174544631..174547612-chr1:174552869..174554719,2	MCF-7	breast:
6	chr1:174527785..174529980-chr1:174530540..174532967,2	MCF-7	breast:
7	chr1:174524894..174527021-chr1:174528165..174529898,2	K562	blood:
8	chr1:174537431..174539369-chr1:174541884..174544062,2	K562	blood:
9	chr1:174536183..174536703-chr12:77045544..77046044,2	MCF-7	breast:
10	chr1:174418631..174420346-chr1:174546629..174548508,2	K562	blood:
11	chr1:174537054..174539369-chr1:174541231..174544062,3	K562	blood:
12	chr1:174544631..174547612-chr1:174552869..174554719,2	MCF-7	breast:
13	chr1:174537054..174539369-chr1:174541231..174544062,3	K562	blood:
14	chr1:174532659..174534724-chr1:174536541..174539409,2	K562	blood:
15	chr1:174524894..174527021-chr1:174528165..174529898,2	K562	blood:
16	chr1:174527785..174529980-chr1:174530540..174532967,2	MCF-7	breast:
17	chr1:174522506..174524469-chr1:174526591..174528326,2	K562	blood:

No data

Extended variants
information (count: 1212 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1212 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34489456	chr1:174525135-174525136	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs189577992	chr1:174525159-174525160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115916919	chr1:174525172-174525173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372666051	chr1:174525197-174525198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111706996	chr1:174525245-174525246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566182183	chr1:174525296-174525297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535216079	chr1:174525297-174525298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12124259	chr1:174525320-174525321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182310818	chr1:174525356-174525357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188762691	chr1:174525412-174525413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544092657	chr1:174525442-174525443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556225183	chr1:174525579-174525580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576095117	chr1:174525634-174525635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375656200	chr1:174525652-174525653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543028004	chr1:174525659-174525660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs193294307	chr1:174525666-174525667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564991698	chr1:174525669-174525670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185593893	chr1:174525672-174525673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533544874	chr1:174525695-174525696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188480785	chr1:174525750-174525751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74845163	chr1:174525763-174525764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549642670	chr1:174525777-174525778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563377305	chr1:174525813-174525814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144352235	chr1:174525837-174525838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140120024	chr1:174525869-174525870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566166362	chr1:174525873-174525874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547765419	chr1:174525899-174525900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2072758	chr1:174525917-174525918	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs111630357	chr1:174525931-174525932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548777373	chr1:174525952-174525953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568640091	chr1:174526044-174526045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537777071	chr1:174526083-174526084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376134178	chr1:174526090-174526091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557679341	chr1:174526139-174526140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576156456	chr1:174526180-174526181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539906120	chr1:174526188-174526189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192254728	chr1:174526201-174526202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572123217	chr1:174526233-174526234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540741916	chr1:174526240-174526241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140105898	chr1:174526241-174526242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200009542	chr1:174526244-174526245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560776740	chr1:174526273-174526274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574275709	chr1:174526367-174526368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543352547	chr1:174526373-174526374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73042877	chr1:174526404-174526405	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs532257099	chr1:174526442-174526443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552547531	chr1:174526468-174526469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74126833	chr1:174526483-174526484	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs528605911	chr1:174526544-174526545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115435448	chr1:174526550-174526551	Enhancers Weak transcription	n/a	n/a	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
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
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
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Autism	19404257	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174514800-174539400	Weak transcription	Ovary	ovary
2	chr1:174515000-174528000	Weak transcription	GM12878-XiMat	blood
3	chr1:174523400-174528800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr1:174525600-174526000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:174525600-174526200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:174525600-174526600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:174525800-174526600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:174528800-174529800	Enhancers	Primary B cells from peripheral blood	blood
9	chr1:174529800-174538200	Weak transcription	Primary B cells from peripheral blood	blood
10	chr1:174533200-174545400	Weak transcription	Primary B cells from cord blood	blood
11	chr1:174534800-174537600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:174535000-174537200	Weak transcription	Aorta	Aorta
13	chr1:174535400-174535600	Active TSS	Sigmoid Colon	Sigmoid Colon
14	chr1:174535600-174540400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:174536200-174539400	Weak transcription	GM12878-XiMat	blood
16	chr1:174537000-174539200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr1:174537200-174537400	ZNF genes & repeats	Aorta	Aorta
18	chr1:174537600-174538200	Enhancers	Fetal Lung	lung
19	chr1:174538000-174542200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:174538200-174538600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr1:174538200-174538600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr1:174538200-174538600	Enhancers	Primary B cells from peripheral blood	blood
23	chr1:174538400-174539000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr1:174538400-174539000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr1:174538400-174539000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr1:174538400-174539200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr1:174539200-174539400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:174541600-174544800	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr1:174542000-174542600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:174545200-174555800	Weak transcription	Psoas Muscle	Psoas
31	chr1:174545400-174546200	ZNF genes & repeats	Primary B cells from cord blood	blood
32	chr1:174545400-174550200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr1:174545800-174546400	Enhancers	Fetal Heart	heart
34	chr1:174546000-174546400	Enhancers	Right Atrium	heart
35	chr1:174546000-174573000	Weak transcription	Left Ventricle	heart
36	chr1:174546200-174556800	Weak transcription	Primary B cells from cord blood	blood
37	chr1:174546400-174550000	Weak transcription	Fetal Heart	heart
38	chr1:174547200-174554400	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr1:174547400-174550200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr1:174550000-174550200	Enhancers	Fetal Heart	heart
41	chr1:174552200-174554400	Weak transcription	Primary B cells from peripheral blood	blood
42	chr1:174552800-174554600	Weak transcription	GM12878-XiMat	blood
43	chr1:174553000-174553800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr1:174553400-174554800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr1:174553600-174570200	Weak transcription	Gastric	stomach
46	chr1:174553800-174555000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr1:174554400-174554800	Strong transcription	Primary B cells from peripheral blood	blood
48	chr1:174554400-174555000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
49	chr1:174554600-174555000	Strong transcription	GM12878-XiMat	blood
50	chr1:174554800-174555000	ZNF genes & repeats	Duodenum Mucosa	Duodenum

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