Variant report

Variant	nsv528874
Chromosome Location	chr1:175140319-175151183
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:10)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:175065484..175067807-chr1:175139999..175142698,2	K562	blood:
2	chr1:175150391..175152928-chr1:175161401..175163000,2	MCF-7	breast:
3	chr1:175145820..175147499-chr1:175149198..175150741,2	K562	blood:
4	chr1:175150062..175151870-chr1:175152448..175154520,2	MCF-7	breast:
5	chr1:175142412..175143966-chr1:175161330..175163872,2	MCF-7	breast:
6	chr1:175145820..175147499-chr1:175149198..175150741,2	K562	blood:
7	chr1:175141823..175144035-chr1:175148495..175150973,2	MCF-7	breast:
8	chr1:175141823..175144035-chr1:175148495..175150973,2	MCF-7	breast:
9	chr1:174967921..174970641-chr1:175144834..175147291,2	MCF-7	breast:
10	chr1:175139577..175141304-chr1:175158200..175161170,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TNR-2	chr1:175146747-175146820	NONHSAT007750
2	lnc-TNR-2	chr1:175145536-175145610	NONHSAT007750

No data

Variant related genes	Relation type
ENSG00000235750	chromatin interactions
ENSG00000116161	chromatin interactions

Extended variants
information (count: 384 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:384 , 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	rs12136973	chr1:175140319-175140320	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs149623091	chr1:175140331-175140332	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536269946	chr1:175140344-175140345	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373720130	chr1:175140440-175140441	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556484690	chr1:175140464-175140465	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576338128	chr1:175140525-175140526	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539158276	chr1:175140660-175140661	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539367757	chr1:175140713-175140714	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs76682211	chr1:175140714-175140715	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572690133	chr1:175140781-175140782	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531089085	chr1:175140788-175140789	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144371213	chr1:175140822-175140823	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573647499	chr1:175140855-175140856	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547642859	chr1:175140924-175140925	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542343709	chr1:175140944-175140945	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567584773	chr1:175140969-175140970	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562531067	chr1:175141036-175141037	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10753092	chr1:175141050-175141051	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs114544887	chr1:175141054-175141055	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564796676	chr1:175141177-175141178	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114589939	chr1:175141187-175141188	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547159294	chr1:175141203-175141204	Weak transcription Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113657669	chr1:175141213-175141214	Weak transcription Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376399721	chr1:175141240-175141241	Weak transcription Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566513673	chr1:175141279-175141280	Weak transcription Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs527589629	chr1:175141342-175141343	Weak transcription Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550005657	chr1:175141407-175141408	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570074838	chr1:175141465-175141466	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538802766	chr1:175141554-175141555	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538996658	chr1:175141568-175141569	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182754991	chr1:175141609-175141610	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370845749	chr1:175141639-175141640	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142485091	chr1:175141661-175141662	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566249925	chr1:175141666-175141667	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558962027	chr1:175141785-175141786	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574912550	chr1:175141809-175141810	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542752678	chr1:175141835-175141836	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368548207	chr1:175141856-175141857	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147564640	chr1:175141897-175141898	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374274098	chr1:175142013-175142014	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555976044	chr1:175142042-175142043	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575996848	chr1:175142049-175142050	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs140346612	chr1:175142051-175142052	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115262662	chr1:175142098-175142099	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs527547133	chr1:175142147-175142148	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540909865	chr1:175142268-175142269	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561184817	chr1:175142283-175142284	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187849676	chr1:175142324-175142325	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550258542	chr1:175142329-175142330	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570006935	chr1:175142443-175142444	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 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
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
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:410 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175124000-175140400	Weak transcription	Fetal Heart	heart
2	chr1:175126800-175141800	Strong transcription	Primary B cells from cord blood	blood
3	chr1:175126800-175148800	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr1:175127000-175148400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:175127200-175147800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:175127400-175144200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:175127400-175149400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr1:175127600-175140600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:175129200-175159600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:175130200-175152600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:175130400-175143400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:175135000-175152600	Weak transcription	Aorta	Aorta
13	chr1:175135000-175158400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr1:175135800-175146000	Weak transcription	Colonic Mucosa	Colon
15	chr1:175135800-175146000	Weak transcription	Fetal Intestine Large	intestine
16	chr1:175136000-175141800	Weak transcription	Fetal Muscle Leg	muscle
17	chr1:175136000-175142200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr1:175136000-175145200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr1:175136000-175145400	Weak transcription	Ovary	ovary
20	chr1:175136000-175151600	Weak transcription	Fetal Stomach	stomach
21	chr1:175136000-175157600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr1:175136200-175141800	Weak transcription	Psoas Muscle	Psoas
23	chr1:175136200-175145000	Weak transcription	Fetal Thymus	thymus
24	chr1:175136200-175146800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr1:175136600-175145200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr1:175137400-175145400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr1:175137600-175140600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
28	chr1:175137800-175140600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr1:175137800-175140800	Genic enhancers	Lung	lung
30	chr1:175137800-175140800	Enhancers	Small Intestine	intestine
31	chr1:175138000-175140400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:175138000-175140400	Genic enhancers	NHEK	skin
33	chr1:175138000-175143200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr1:175138000-175148000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:175138400-175140400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:175138400-175140400	Enhancers	Duodenum Mucosa	Duodenum
37	chr1:175138400-175145200	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr1:175138600-175140400	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr1:175138600-175141400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr1:175138800-175141800	Weak transcription	GM12878-XiMat	blood
41	chr1:175139000-175140600	Enhancers	Gastric	stomach
42	chr1:175139000-175140800	Genic enhancers	Primary B cells from peripheral blood	blood
43	chr1:175139200-175140600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:175139200-175140600	Genic enhancers	Primary T cells fromperipheralblood	blood
45	chr1:175139200-175141200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr1:175139200-175141600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:175139200-175143400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:175139200-175145400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr1:175139400-175140600	Enhancers	Hela-S3	cervix
50	chr1:175139400-175142400	Weak transcription	Rectal Mucosa Donor 31	rectum

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