Variant report

Variant	nsv898876
Chromosome Location	chr12:21010048-21015760
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:21015510-21015751	A549	lung:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:21014317-21014367	PrEC	prostate:	n/a
2	chr12:21014317-21014367	HCM	heart:	n/a
3	chr12:21015340-21015390	AG04449	skin:	fetal
4	chr12:21015340-21015390	HPAEpiC	pulmonary alveolar:	n/a
5	chr12:21014317-21014367	AG04450	lung:	fetal
6	chr12:21015340-21015390	GM19239	blood:	n/a
7	chr12:21015340-21015390	U87	brain:	n/a
8	chr12:21015340-21015390	HIPEpiC	eye:	n/a
9	chr12:21015340-21015390	K562	blood:	n/a
10	chr12:21015340-21015390	HEEpiC	esophagus:	n/a
11	chr12:21015340-21015390	HRCEpiC	kidney:	n/a
12	chr12:21015340-21015390	HUVEC	blood vessel:	n/a
13	chr12:21014317-21014367	HIPEpiC	eye:	n/a
14	chr12:21014317-21014367	HRPEpiC	eye:	n/a
15	chr12:21015340-21015390	LNCaP	prostate:	n/a
16	chr12:21014317-21014367	H1-hESC	embryonic stem cell:	embryo
17	chr12:21014317-21014367	CMK	blood:	n/a
18	chr12:21015340-21015390	Hela-S3	cervix:	n/a
19	chr12:21014317-21014367	HMEC	breast:	n/a
20	chr12:21014317-21014367	T-47D	breast:	n/a
21	chr12:21014317-21014367	AG09319	gingival:	n/a
22	chr12:21014317-21014367	NHBE	bronchial:	n/a
23	chr12:21015340-21015390	HRE	kidney:	n/a
24	chr12:21014317-21014367	HPAEpiC	pulmonary alveolar:	n/a
25	chr12:21014317-21014367	Hepatocyte	liver:	n/a
26	chr12:21015340-21015390	AG10803	skin:	n/a
27	chr12:21014317-21014367	HL-60	blood:	n/a
28	chr12:21015340-21015390	HMEC	breast:	n/a
29	chr12:21014317-21014367	AoSMC	blood vessel:	n/a
30	chr12:21015340-21015390	MCF10A-Er-Src	breast:	n/a
31	chr12:21014317-21014367	HepG2	liver:	n/a
32	chr12:21014317-21014367	HCF	heart:	n/a
33	chr12:21014317-21014367	Hela-S3	cervix:	n/a
34	chr12:21014317-21014367	NHDF-neo	bronchial:	n/a
35	chr12:21014317-21014367	GM12878	blood:	n/a
36	chr12:21015340-21015390	PANC-1	pancreas:	n/a
37	chr12:21015340-21015390	GM12878	blood:	n/a
38	chr12:21015340-21015390	HCF	heart:	n/a
39	chr12:21015340-21015390	HCM	heart:	n/a
40	chr12:21014317-21014367	SAEC	small airway:	n/a
41	chr12:21014317-21014367	A549	lung:	n/a
42	chr12:21015340-21015390	NHDF-neo	bronchial:	n/a
43	chr12:21015340-21015390	HCT-116	colon:	n/a
44	chr12:21014317-21014367	Caco-2	colon:	n/a
45	chr12:21015340-21015390	PFSK-1	brain:	n/a
46	chr12:21014317-21014367	ECC-1	luminal epithelium:	n/a
47	chr12:21015340-21015390	ECC-1	luminal epithelium:	n/a
48	chr12:21014317-21014367	HEK293	kidney:	embryo
49	chr12:21015340-21015390	SK-N-SH	brain:	n/a
50	chr12:21014317-21014367	HNPCEpiC	eye:	n/a

No data

Variant related genes	Relation type
SLCO1B3	TF binding region
SLCO1B3	CpG island

Extended variants
information (count: 334 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:334 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2900474	chr12:21010048-21010049	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7311387	chr12:21010085-21010086	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs370371175	chr12:21010098-21010099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184625812	chr12:21010099-21010100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533963157	chr12:21010107-21010108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554667625	chr12:21010135-21010136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574734836	chr12:21010147-21010148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542571086	chr12:21010167-21010168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148020867	chr12:21010175-21010176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559656457	chr12:21010181-21010182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369362633	chr12:21010194-21010195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573150638	chr12:21010219-21010220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371260970	chr12:21010232-21010233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7297444	chr12:21010297-21010298	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs565072688	chr12:21010333-21010334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7312103	chr12:21010371-21010372	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs200823453	chr12:21010403-21010404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149348597	chr12:21010483-21010484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189091786	chr12:21010504-21010505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529665684	chr12:21010543-21010544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546168465	chr12:21010549-21010550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200644037	chr12:21010571-21010572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181849458	chr12:21010580-21010581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146310477	chr12:21010604-21010605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565435458	chr12:21010662-21010663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4149111	chr12:21010671-21010672	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs184781776	chr12:21010722-21010723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537960940	chr12:21010753-21010754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4149112	chr12:21010782-21010783	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs561737715	chr12:21010794-21010795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568382584	chr12:21010797-21010798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369625511	chr12:21010851-21010852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554189356	chr12:21010853-21010854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4149113	chr12:21010856-21010857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530246219	chr12:21010915-21010916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545279740	chr12:21010952-21010953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201395594	chr12:21010954-21010955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558798281	chr12:21010958-21010959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77390746	chr12:21010963-21010964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114546482	chr12:21010978-21010979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543999704	chr12:21010992-21010993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532767114	chr12:21011023-21011024	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561067709	chr12:21011042-21011043	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374262379	chr12:21011056-21011057	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142322493	chr12:21011113-21011114	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140759897	chr12:21011158-21011159	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11831951	chr12:21011179-21011180	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs57712877	chr12:21011208-21011209	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs59976661	chr12:21011209-21011210	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144607206	chr12:21011210-21011211	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21364760	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21006200-21011000	Weak transcription	Liver	Liver
2	chr12:21006600-21018000	Weak transcription	A549	lung
3	chr12:21011000-21014600	Strong transcription	Liver	Liver
4	chr12:21014600-21015400	Weak transcription	Liver	Liver
5	chr12:21015400-21018400	Strong transcription	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links