Variant report

Variant	nsv873152
Chromosome Location	chr1:210820285-210854815
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:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:210324019..210326908-chr1:210824141..210827661,3	K562	blood:
2	chr1:210846826..210848354-chr1:210867968..210870812,2	K562	blood:
3	chr1:210822081..210825153-chr1:210825536..210827144,3	K562	blood:
4	chr1:210849903..210852743-chr1:210867034..210869915,2	K562	blood:
5	chr1:210847848..210849645-chr1:210850888..210853142,2	K562	blood:
6	chr1:210847848..210849645-chr1:210850888..210853142,2	K562	blood:
7	chr1:210848540..210850849-chr1:210853402..210855060,2	K562	blood:
8	chr1:210822081..210825153-chr1:210825536..210827144,3	K562	blood:
9	chr1:210829972..210830727-chr4:175163977..175164893,2	MCF-7	breast:
10	chr1:210848540..210850849-chr1:210853402..210855060,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNH1-3	chr1:210851657-210855274	NONHSAT009270

No data

(count:3 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	HHAT	hsa-miR-193b-3p	chr1:210848489-210848510
2	HHAT	hsa-miR-193b-3p	chr1:210847722-210847743
3	HHAT	hsa-miR-193b-3p	chr1:210849212-210849231

Extended variants
information (count: 1394 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1394 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4951497	chr1:210820285-210820286	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs193088430	chr1:210820325-210820326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184558369	chr1:210820342-210820343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543386079	chr1:210820425-210820426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs138336054	chr1:210820452-210820453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187775445	chr1:210820461-210820462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560290316	chr1:210820473-210820474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541272402	chr1:210820483-210820484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78127421	chr1:210820509-210820510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531548444	chr1:210820510-210820511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533560669	chr1:210820583-210820584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557028321	chr1:210820684-210820685	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78156586	chr1:210820724-210820725	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs61827417	chr1:210820727-210820728	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs530838534	chr1:210820733-210820734	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549329723	chr1:210820769-210820770	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7543946	chr1:210820777-210820778	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs529140048	chr1:210820792-210820793	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547287333	chr1:210820803-210820804	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs368780404	chr1:210820889-210820890	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs573365652	chr1:210820903-210820904	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs149227944	chr1:210820912-210820913	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs143383211	chr1:210820963-210820964	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs531277620	chr1:210820968-210820969	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs549940938	chr1:210820980-210820981	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs200704921	chr1:210821038-210821039	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs148309242	chr1:210821041-210821042	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs544186738	chr1:210821057-210821058	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs555299660	chr1:210821090-210821091	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs574251982	chr1:210821096-210821097	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs541790768	chr1:210821115-210821116	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs114550224	chr1:210821170-210821171	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs191172773	chr1:210821218-210821219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545595203	chr1:210821225-210821226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563793563	chr1:210821232-210821233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531000794	chr1:210821328-210821329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533225442	chr1:210821336-210821337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375736865	chr1:210821349-210821350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542658945	chr1:210821370-210821371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12736742	chr1:210821440-210821441	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs183674870	chr1:210821462-210821463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547323785	chr1:210821471-210821472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565619062	chr1:210821498-210821499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565500261	chr1:210821514-210821515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112327429	chr1:210821528-210821529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551129293	chr1:210821564-210821565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372881296	chr1:210821566-210821567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189508749	chr1:210821648-210821649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569657292	chr1:210821664-210821665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537100776	chr1:210821707-210821708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	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
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:337 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210795400-210822600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:210801600-210823000	Weak transcription	Aorta	Aorta
3	chr1:210807800-210820400	Weak transcription	HSMM	muscle
4	chr1:210808600-210820400	Weak transcription	HSMMtube	muscle
5	chr1:210815200-210827000	Weak transcription	Pancreas	Pancrea
6	chr1:210818400-210821800	Enhancers	Fetal Stomach	stomach
7	chr1:210818600-210822200	Enhancers	HepG2	liver
8	chr1:210818800-210821800	Enhancers	Fetal Muscle Leg	muscle
9	chr1:210819000-210821000	Enhancers	Ovary	ovary
10	chr1:210819000-210822000	Enhancers	Fetal Lung	lung
11	chr1:210819200-210820800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:210819400-210820800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:210819400-210820800	Weak transcription	Left Ventricle	heart
14	chr1:210819400-210827000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:210819400-210827200	Weak transcription	Brain Anterior Caudate	brain
16	chr1:210819600-210820400	Weak transcription	Fetal Brain Female	brain
17	chr1:210819600-210820600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:210819600-210827200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:210819800-210820400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr1:210819800-210823800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr1:210820000-210827200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr1:210820200-210821600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:210820400-210820600	Enhancers	Fetal Brain Female	brain
24	chr1:210820400-210821600	Enhancers	HSMMtube	muscle
25	chr1:210820400-210821800	Enhancers	Dnd41	blood
26	chr1:210820400-210821800	Enhancers	HSMM	muscle
27	chr1:210820600-210821200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:210820600-210821400	Weak transcription	Fetal Brain Female	brain
29	chr1:210820600-210821800	Enhancers	Muscle Satellite Cultured Cells	--
30	chr1:210820600-210822000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:210820600-210827000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr1:210820800-210821400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:210820800-210821400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr1:210820800-210821400	Enhancers	Left Ventricle	heart
35	chr1:210820800-210821400	Enhancers	Right Ventricle	heart
36	chr1:210820800-210821600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:210820800-210821600	Enhancers	Primary T cells fromperipheralblood	blood
38	chr1:210820800-210821600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:210820800-210821800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:210820800-210822000	Enhancers	NH-A	brain
41	chr1:210820800-210823000	Enhancers	Brain Germinal Matrix	brain
42	chr1:210820800-210823200	Enhancers	Fetal Brain Male	brain
43	chr1:210821000-210821600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:210821000-210821800	Enhancers	NHLF	lung
45	chr1:210821000-210822000	Enhancers	Osteobl	bone
46	chr1:210821000-210827200	Weak transcription	Ovary	ovary
47	chr1:210821200-210821400	Enhancers	Small Intestine	intestine
48	chr1:210821200-210821600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:210821400-210821600	Enhancers	Lung	lung
50	chr1:210821400-210823400	Enhancers	Fetal Brain Female	brain

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