Variant report

Variant	nsv947158
Chromosome Location	chr1:211961270-211967493
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:211963173-211963687	HepG2	liver:	n/a	n/a
2	CEBPB	chr1:211967189-211967305	K562	blood:	n/a	chr1:211967213-211967224
3	CEBPB	chr1:211967117-211967286	HepG2	liver:	n/a	chr1:211967213-211967224
4	CTCF	chr1:211965060-211965210	GM12873	blood:	n/a	n/a
5	CTCF	chr1:211965120-211965270	GM12872	blood:	n/a	n/a
6	CTCF	chr1:211965100-211965250	BE2_C	brain:	n/a	n/a
7	EP300	chr1:211963089-211963526	HepG2	liver:	n/a	chr1:211963285-211963295
8	FAM48A	chr1:211961219-211961298	GM12878	blood:	n/a	n/a
9	FOXA1	chr1:211963144-211963760	HepG2	liver:	n/a	n/a
10	FOXA1	chr1:211963028-211963737	HepG2	liver:	n/a	n/a
11	FOXA1	chr1:211963347-211963761	HepG2	liver:	n/a	n/a
12	FOXA1	chr1:211963123-211963775	HepG2	liver:	n/a	n/a
13	FOXA2	chr1:211963108-211963419	HepG2	liver:	n/a	n/a
14	FOXA2	chr1:211963421-211963702	HepG2	liver:	n/a	n/a
15	JUN	chr1:211967165-211967282	HepG2	liver:	n/a	chr1:211967210-211967223
16	MYBL2	chr1:211962974-211963548	HepG2	liver:	n/a	n/a
17	NFIC	chr1:211963095-211963581	HepG2	liver:	n/a	n/a
18	NRF1	chr1:211963537-211963576	GM12878	blood:	n/a	n/a
19	POLR2A	chr1:211962268-211962273	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr1:211962293-211962468	MCF10A-Er-Src	breast:	n/a	n/a
21	RFX5	chr1:211963166-211963225	HepG2	liver:	n/a	chr1:211963181-211963196
22	SP1	chr1:211963003-211963518	HepG2	liver:	n/a	n/a
23	TCF7L2	chr1:211963234-211963480	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:211957822..211959614-chr1:211962525..211964186,2	K562	blood:
2	chr1:211956372..211959322-chr1:211961904..211964025,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NEK2-3	chr1:211965455-211965748	NONHSAT009327

Variant related genes	Relation type
RN7SL344P	TF binding region
LPGAT1	TF binding region

Extended variants
information (count: 221 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:221 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147149324	chr1:211961286-211961287	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140274957	chr1:211961327-211961328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113314429	chr1:211961375-211961376	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150159245	chr1:211961418-211961419	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111998670	chr1:211961433-211961434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561704102	chr1:211961556-211961557	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11119812	chr1:211961575-211961576	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs541113131	chr1:211961581-211961582	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139306143	chr1:211961596-211961597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559144007	chr1:211961675-211961676	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188544448	chr1:211961695-211961696	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144356547	chr1:211961708-211961709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73088109	chr1:211961720-211961721	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs530692490	chr1:211961735-211961736	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12030682	chr1:211961741-211961742	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs141185942	chr1:211961773-211961774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368685722	chr1:211961779-211961780	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540188024	chr1:211961839-211961840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535439283	chr1:211961840-211961841	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs193152888	chr1:211961895-211961896	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566148522	chr1:211961932-211961933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368150859	chr1:211961946-211961947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149825630	chr1:211961949-211961950	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542703587	chr1:211961953-211961954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185669747	chr1:211961983-211961984	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537740021	chr1:211962020-211962021	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs80066598	chr1:211962022-211962023	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs74937167	chr1:211962024-211962025	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189406156	chr1:211962044-211962045	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12144899	chr1:211962050-211962051	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs111560796	chr1:211962053-211962054	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559420525	chr1:211962072-211962073	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12118567	chr1:211962073-211962074	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs531194469	chr1:211962101-211962102	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549332661	chr1:211962116-211962117	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563137874	chr1:211962212-211962213	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530753585	chr1:211962280-211962281	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183607487	chr1:211962308-211962309	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188710673	chr1:211962338-211962339	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181429208	chr1:211962389-211962390	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186522334	chr1:211962466-211962467	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs145798518	chr1:211962474-211962475	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564561417	chr1:211962515-211962516	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539921188	chr1:211962549-211962550	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376900514	chr1:211962639-211962640	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552052210	chr1:211962670-211962671	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532227078	chr1:211962671-211962672	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs74441922	chr1:211962746-211962747	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556029548	chr1:211962773-211962774	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574223468	chr1:211962885-211962886	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Medulloblastoma	16783165	CNVD

Chromatin state (count:282 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211912600-211964600	Weak transcription	NHEK	skin
2	chr1:211912800-211970200	Weak transcription	HMEC	breast
3	chr1:211913800-211967800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr1:211913800-211968800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:211913800-211969600	Weak transcription	Small Intestine	intestine
6	chr1:211914000-211965400	Weak transcription	Thymus	Thymus
7	chr1:211914000-211973600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:211915800-211991800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:211916200-211965400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:211916800-211994200	Weak transcription	Fetal Brain Male	brain
11	chr1:211917000-211970400	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr1:211919200-212001200	Weak transcription	Gastric	stomach
13	chr1:211922600-211965600	Weak transcription	Osteobl	bone
14	chr1:211922800-211963000	Weak transcription	Hela-S3	cervix
15	chr1:211922800-211964800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:211922800-211965400	Weak transcription	Right Ventricle	heart
17	chr1:211923000-211967200	Weak transcription	Colonic Mucosa	Colon
18	chr1:211923000-211991800	Weak transcription	HSMM	muscle
19	chr1:211923200-211963400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:211923200-211967200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr1:211924000-212002400	Weak transcription	NHLF	lung
22	chr1:211931600-211964800	Weak transcription	Fetal Kidney	kidney
23	chr1:211935800-211969000	Weak transcription	Fetal Heart	heart
24	chr1:211936000-211966800	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr1:211936400-211968200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:211938200-211999400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:211939600-211978200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr1:211939600-211992600	Weak transcription	Esophagus	oesophagus
29	chr1:211939800-212002400	Weak transcription	HSMMtube	muscle
30	chr1:211940000-211965200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr1:211940000-212000600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr1:211940200-211964600	Weak transcription	Lung	lung
33	chr1:211940800-211964800	Weak transcription	Aorta	Aorta
34	chr1:211943200-211971200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr1:211943400-211972000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr1:211945800-211979000	Weak transcription	Colon Smooth Muscle	Colon
37	chr1:211946200-211984200	Weak transcription	NH-A	brain
38	chr1:211946800-211966600	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr1:211947400-212002400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:211949400-211961400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:211950000-211987000	Weak transcription	Fetal Thymus	thymus
42	chr1:211950600-211971800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr1:211950800-211971200	Weak transcription	Placenta	Placenta
44	chr1:211951200-211964400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr1:211951400-211964200	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr1:211951400-211965200	Weak transcription	Fetal Brain Female	brain
47	chr1:211951400-211965400	Weak transcription	Primary T cells from cord blood	blood
48	chr1:211951400-211966200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:211951400-211978800	Weak transcription	Fetal Lung	lung
50	chr1:211951400-211992600	Weak transcription	Ovary	ovary

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