Variant report

Variant	nsv872546
Chromosome Location	chr1:172186321-172219995
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:172207485..172209594-chr1:172210521..172213485,2	MCF-7	breast:
2	chr1:172217494..172219854-chr1:172223387..172225787,2	MCF-7	breast:
3	chr1:172192046..172193599-chr1:172210543..172213398,2	K562	blood:
4	chr1:172192915..172195699-chr1:172196372..172197884,2	K562	blood:
5	chr1:172192915..172195699-chr1:172196372..172197884,2	K562	blood:
6	chr1:172192046..172193599-chr1:172210543..172213398,2	K562	blood:
7	chr1:172182635..172185349-chr1:172186407..172188943,2	K562	blood:
8	chr1:172207485..172209594-chr1:172210521..172213485,2	MCF-7	breast:

No data

Extended variants
information (count: 989 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:989 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10489294	chr1:172186321-172186322	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs34274670	chr1:172186406-172186407	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs564986657	chr1:172186446-172186447	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs186375015	chr1:172186466-172186467	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs10911315	chr1:172186477-172186478	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs558944546	chr1:172186485-172186486	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs529716580	chr1:172186489-172186490	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs372636560	chr1:172186528-172186529	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs375652271	chr1:172186573-172186574	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs371096454	chr1:172186592-172186593	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs567836271	chr1:172186647-172186648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538509034	chr1:172186655-172186656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34743602	chr1:172186667-172186668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs72092016	chr1:172186668-172186669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550361652	chr1:172186716-172186717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571816232	chr1:172186717-172186718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191687514	chr1:172186718-172186719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182961916	chr1:172186722-172186723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs633995	chr1:172186729-172186730	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs116107250	chr1:172186784-172186785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10489293	chr1:172186787-172186788	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs576485105	chr1:172186802-172186803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139589946	chr1:172186855-172186856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370673113	chr1:172186867-172186868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186549042	chr1:172186881-172186882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145117326	chr1:172186885-172186886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552176914	chr1:172186908-172186909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540954679	chr1:172186935-172186936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558905693	chr1:172186954-172186955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191002532	chr1:172186965-172186966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77433619	chr1:172187081-172187082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563188151	chr1:172187105-172187106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530648771	chr1:172187106-172187107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183216400	chr1:172187148-172187149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571839835	chr1:172187155-172187156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147567046	chr1:172187173-172187174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548151100	chr1:172187191-172187192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566078871	chr1:172187192-172187193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187625439	chr1:172187230-172187231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374762811	chr1:172187234-172187235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs912299	chr1:172187250-172187251	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs554506542	chr1:172187265-172187266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370593407	chr1:172187284-172187285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577000160	chr1:172187347-172187348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574569585	chr1:172187359-172187360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs912300	chr1:172187403-172187404	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs34540602	chr1:172187433-172187434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs17277372	chr1:172187474-172187475	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs547275037	chr1:172187481-172187482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544057657	chr1:172187491-172187492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Autism	20531469	CNVD
Hereditary coagulopathy	21993689	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172176600-172189800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:172186200-172186800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:172186400-172186600	Active TSS	Aorta	Aorta
4	chr1:172186400-172187000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:172188200-172189200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr1:172188200-172189400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:172188200-172190600	Enhancers	Primary hematopoietic stem cells	blood
8	chr1:172188200-172191000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:172188600-172189600	Enhancers	Fetal Lung	lung
10	chr1:172189400-172189600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:172189600-172189800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:172189800-172190000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:172190000-172190400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:172190400-172193600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:172190600-172193200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr1:172191000-172193200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:172193200-172194200	Enhancers	Primary hematopoietic stem cells	blood
18	chr1:172193200-172194200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:172193600-172194200	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr1:172193600-172194200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:172193800-172194200	Enhancers	GM12878-XiMat	blood
22	chr1:172194200-172199800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr1:172195600-172196000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:172198000-172198200	Enhancers	Fetal Lung	lung
25	chr1:172198200-172199000	Weak transcription	Fetal Lung	lung
26	chr1:172198600-172199400	Enhancers	Brain Anterior Caudate	brain
27	chr1:172198800-172199400	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr1:172199000-172199400	Enhancers	Brain Hippocampus Middle	brain
29	chr1:172199000-172199400	Enhancers	Fetal Lung	lung
30	chr1:172199800-172200000	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr1:172199800-172200200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr1:172205000-172209000	Weak transcription	Pancreas	Pancrea
33	chr1:172206000-172206200	Enhancers	Fetal Kidney	kidney
34	chr1:172206400-172206600	Enhancers	Brain Cingulate Gyrus	brain
35	chr1:172206400-172207600	Weak transcription	Fetal Kidney	kidney
36	chr1:172206600-172207600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr1:172207000-172209400	Enhancers	Ovary	ovary
38	chr1:172207000-172211200	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr1:172207400-172207600	Enhancers	Brain Substantia Nigra	brain
40	chr1:172207400-172207600	Enhancers	Fetal Brain Female	brain
41	chr1:172207400-172207800	Enhancers	Brain Angular Gyrus	brain
42	chr1:172207400-172208600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr1:172207400-172211400	Enhancers	Fetal Stomach	stomach
44	chr1:172207600-172208400	Enhancers	Brain Hippocampus Middle	brain
45	chr1:172207600-172209000	Enhancers	Brain Cingulate Gyrus	brain
46	chr1:172207600-172209600	Enhancers	Fetal Kidney	kidney
47	chr1:172207800-172208200	Weak transcription	Brain Angular Gyrus	brain
48	chr1:172207800-172209200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:172207800-172209200	Weak transcription	Brain Substantia Nigra	brain
50	chr1:172207800-172209400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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