Variant report

Variant	nsv898869
Chromosome Location	chr12:20999815-21056715
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:128)
CpG islands
(count:123)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:128 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr12:21021928-21022137	GM12878	blood:	n/a	chr12:21022019-21022030
2	BHLHE40	chr12:21017099-21017177	GM12878	blood:	n/a	n/a
3	CEBPB	chr12:21036268-21036667	A549	lung:	n/a	chr12:21036463-21036474 chr12:21036307-21036318
4	CEBPB	chr12:21056070-21056238	HepG2	liver:	n/a	n/a
5	CEBPB	chr12:21036282-21036646	Hela-S3	cervix:	n/a	chr12:21036463-21036474 chr12:21036307-21036318
6	CEBPB	chr12:21015510-21015751	A549	lung:	n/a	n/a
7	CEBPB	chr12:21037942-21038507	A549	lung:	n/a	n/a
8	CEBPB	chr12:21036286-21036659	A549	lung:	n/a	chr12:21036463-21036474 chr12:21036307-21036318
9	CEBPB	chr12:21036155-21036832	A549	lung:	n/a	chr12:21036463-21036474 chr12:21036307-21036318
10	CEBPB	chr12:21038060-21038439	A549	lung:	n/a	n/a
11	CEBPB	chr12:21038089-21038427	A549	lung:	n/a	n/a
12	CEBPB	chr12:21036323-21036549	HepG2	liver:	n/a	chr12:21036463-21036474
13	CTCF	chr12:21022151-21022264	GM19240	blood:	n/a	n/a
14	CTCF	chr12:21009590-21009613	GM20000	blood:	n/a	n/a
15	CTCF	chr12:21054684-21054736	GM13976	blood:	n/a	n/a
16	CTCF	chr12:21022178-21022245	GM19238	blood:	n/a	n/a
17	CTCF	chr12:21022130-21022264	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr12:21022144-21022253	K562	blood:	n/a	n/a
19	CTCF	chr12:21022146-21022257	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr12:21022131-21022252	MCF-7	breast:	n/a	n/a
21	CTCF	chr12:21022153-21022253	MCF-7	breast:	n/a	n/a
22	CTCF	chr12:21009530-21009554	MCF-7	breast:	n/a	n/a
23	CTCF	chr12:21016080-21016230	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr12:21022154-21022253	MCF-7	breast:	n/a	n/a
25	CTCF	chr12:21022145-21022262	Gliobla	brain:	n/a	n/a
26	CTCF	chr12:21009320-21009470	A549	lung:	n/a	n/a
27	CTCF	chr12:21022169-21022257	GM12891	blood:	n/a	n/a
28	CTCF	chr12:21016151-21016207	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr12:21022128-21022267	A549	lung:	n/a	n/a
30	CTCF	chr12:21022147-21022255	ProgFib	skin:	n/a	n/a
31	CTCF	chr12:21016100-21016250	Caco-2	colon:	n/a	n/a
32	CTCF	chr12:21022158-21022249	HUVEC	blood vessel:	n/a	n/a
33	CTCF	chr12:21035646-21035694	GM10248	blood:	n/a	n/a
34	CTCF	chr12:21022147-21022253	NHEK	skin:	n/a	n/a
35	CTCF	chr12:21009487-21009574	LNCaP	prostate:	n/a	n/a
36	CTCF	chr12:21009546-21009596	A549	lung:	n/a	n/a
37	CTCF	chr12:21022044-21022354	A549	lung:	n/a	n/a
38	CTCF	chr12:21022085-21022282	A549	lung:	n/a	n/a
39	CTCF	chr12:21022069-21022308	A549	lung:	n/a	n/a
40	CTCF	chr12:21022153-21022245	GM12878	blood:	n/a	n/a
41	CTCF	chr12:21016167-21016176	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr12:21009478-21009610	LNCaP	prostate:	n/a	n/a
43	CTCF	chr12:21022138-21022262	Fibrobl	skin:	n/a	n/a
44	CTCF	chr12:21049616-21049687	LNCaP	prostate:	n/a	n/a
45	CTCF	chr12:21022142-21022253	GM12892	blood:	n/a	n/a
46	CTCF	chr12:21016018-21016303	H1-hESC	embryonic stem cell:	n/a	n/a
47	CUX1	chr12:21006808-21006809	GM12878	blood:	n/a	n/a
48	E2F4	chr12:21054429-21054499	MCF10A-Er-Src	breast:	n/a	n/a
49	E2F4	chr12:21028358-21028495	MCF10A-Er-Src	breast:	n/a	n/a
50	EBF1	chr12:21021916-21022148	GM12878	blood:	n/a	n/a

(count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:21014317-21014367	HMEC	breast:	n/a
2	chr12:21014317-21014367	HMEC	breast:	n/a
3	chr12:21015340-21015390	GM12892	blood:	n/a
4	chr12:21014317-21014367	BJ	skin:	n/a
5	chr12:21015340-21015390	ovcar-3	ovarian:	n/a
6	chr12:21014317-21014367	NB4	blood:	n/a
7	chr12:21014317-21014367	HPAEpiC	pulmonary alveolar:	n/a
8	chr12:21014317-21014367	HRE	kidney:	n/a
9	chr12:21014317-21014367	GM12878	blood:	n/a
10	chr12:21015340-21015390	HepG2	liver:	n/a
11	chr12:21015340-21015390	GM06990	blood:	n/a
12	chr12:21015340-21015390	A549	lung:	n/a
13	chr12:21015340-21015390	ProgFib	skin:	n/a
14	chr12:21014317-21014367	A549	lung:	n/a
15	chr12:21015340-21015390	NB4	blood:	n/a
16	chr12:21014317-21014367	HCM	heart:	n/a
17	chr12:21015340-21015390	T-47D	breast:	n/a
18	chr12:21014317-21014367	AoSMC	blood vessel:	n/a
19	chr12:21015340-21015390	NHDF-neo	bronchial:	n/a
20	chr12:21014317-21014367	NHDF-neo	bronchial:	n/a
21	chr12:21015340-21015390	NH-A	brain:	n/a
22	chr12:21015340-21015390	BJ	skin:	n/a
23	chr12:21015340-21015390	AoSMC	blood vessel:	n/a
24	chr12:21015340-21015390	SK-N-SH	brain:	n/a
25	chr12:21014317-21014367	HepG2	liver:	n/a
26	chr12:21014317-21014367	AG04450	lung:	fetal
27	chr12:21014317-21014367	AG09309	skin:	n/a
28	chr12:21014317-21014367	LNCaP	prostate:	n/a
29	chr12:21014317-21014367	NH-A	brain:	n/a
30	chr12:21015340-21015390	K562	blood:	n/a
31	chr12:21015340-21015390	HPAEpiC	pulmonary alveolar:	n/a
32	chr12:21014317-21014367	GM06990	blood:	n/a
33	chr12:21015340-21015390	Jurkat	blood:	n/a
34	chr12:21014317-21014367	IMR90	lung:	fetal
35	chr12:21014317-21014367	CMK	blood:	n/a
36	chr12:21015340-21015390	MCF-7	breast:	n/a
37	chr12:21014317-21014367	T-47D	breast:	n/a
38	chr12:21015340-21015390	IMR90	lung:	fetal
39	chr12:21014317-21014367	HEEpiC	esophagus:	n/a
40	chr12:21014317-21014367	HCF	heart:	n/a
41	chr12:21014317-21014367	SAEC	small airway:	n/a
42	chr12:21015340-21015390	Hepatocyte	liver:	n/a
43	chr12:21014317-21014367	Caco-2	colon:	n/a
44	chr12:21015340-21015390	BE2_C	brain:	n/a
45	chr12:21015340-21015390	HMEC	breast:	n/a
46	chr12:21014317-21014367	HUVEC	blood vessel:	n/a
47	chr12:21014317-21014367	H1-hESC	embryonic stem cell:	embryo
48	chr12:21015340-21015390	AG04449	skin:	fetal
49	chr12:21014317-21014367	NT2-D1	testis:	n/a
50	chr12:21015340-21015390	HCF	heart:	n/a

No data

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

Extended variants
information (count: 2554 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:2554 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2033515	chr12:20999815-20999816	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs372941759	chr12:20999819-20999820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184335712	chr12:20999825-20999826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543012792	chr12:20999831-20999832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568320478	chr12:20999846-20999847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534101126	chr12:20999865-20999866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554325536	chr12:20999887-20999888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372643007	chr12:20999903-20999904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577292604	chr12:20999945-20999946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546273129	chr12:20999998-20999999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7133202	chr12:21000010-21000011	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs576463820	chr12:21000026-21000027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7136326	chr12:21000042-21000043	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs74065260	chr12:21000064-21000065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145271059	chr12:21000096-21000097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11045555	chr12:21000144-21000145	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs375293933	chr12:21000149-21000150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs61921652	chr12:21000152-21000153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535682123	chr12:21000154-21000155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11410978	chr12:21000163-21000164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532155724	chr12:21000240-21000241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113522079	chr12:21000298-21000299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111944312	chr12:21000309-21000310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548864204	chr12:21000362-21000363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371583611	chr12:21000366-21000367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559164778	chr12:21000375-21000376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191455546	chr12:21000376-21000377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568446693	chr12:21000398-21000399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534482979	chr12:21000402-21000403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147220976	chr12:21000419-21000420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571013626	chr12:21000434-21000435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539558699	chr12:21000457-21000458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139086225	chr12:21000476-21000477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35530212	chr12:21000479-21000480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141035366	chr12:21000482-21000483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1304606	chr12:21000483-21000484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535813196	chr12:21000489-21000490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555783511	chr12:21000505-21000506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141924387	chr12:21000515-21000516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7136918	chr12:21000533-21000534	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs1304607	chr12:21000546-21000547	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs4469945	chr12:21000551-21000552	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs576931192	chr12:21000552-21000553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545586178	chr12:21000556-21000557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1304608	chr12:21000586-21000587	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs149425950	chr12:21000632-21000633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35543005	chr12:21000633-21000634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183651687	chr12:21000637-21000638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150073509	chr12:21000642-21000643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71043206	chr12:21000648-21000649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20996000-21004800	Weak transcription	Liver	Liver
2	chr12:21004800-21005000	ZNF genes & repeats	Liver	Liver
3	chr12:21006200-21011000	Weak transcription	Liver	Liver
4	chr12:21006600-21018000	Weak transcription	A549	lung
5	chr12:21007200-21007800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr12:21007400-21007800	Enhancers	H1 Cell Line	embryonic stem cell
7	chr12:21007400-21007800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr12:21007400-21008200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr12:21007600-21008000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr12:21011000-21014600	Strong transcription	Liver	Liver
11	chr12:21014600-21015400	Weak transcription	Liver	Liver
12	chr12:21015400-21018400	Strong transcription	Liver	Liver
13	chr12:21017800-21019200	Enhancers	HUVEC	blood vessel
14	chr12:21018000-21018200	Strong transcription	A549	lung
15	chr12:21018200-21018800	Weak transcription	A549	lung
16	chr12:21018400-21020800	Weak transcription	Liver	Liver
17	chr12:21018800-21020600	Strong transcription	A549	lung
18	chr12:21019800-21020000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:21020000-21020400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:21020000-21020600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:21020600-21021600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:21020600-21027400	Weak transcription	A549	lung
23	chr12:21020800-21021200	Strong transcription	Liver	Liver
24	chr12:21020800-21021600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:21021200-21024600	Weak transcription	Liver	Liver
26	chr12:21021600-21022200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:21024600-21026200	Strong transcription	Liver	Liver
28	chr12:21026200-21027800	Weak transcription	Liver	Liver
29	chr12:21027400-21028400	Strong transcription	A549	lung
30	chr12:21027800-21029600	Strong transcription	Liver	Liver
31	chr12:21028400-21035800	Weak transcription	A549	lung
32	chr12:21029600-21032400	Weak transcription	Liver	Liver
33	chr12:21032400-21035400	Strong transcription	Liver	Liver
34	chr12:21034000-21034200	Enhancers	Rectal Smooth Muscle	rectum
35	chr12:21034400-21035000	Enhancers	Stomach Mucosa	stomach
36	chr12:21034400-21035600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr12:21035000-21035400	Weak transcription	Stomach Mucosa	stomach
38	chr12:21035400-21036000	Enhancers	Stomach Mucosa	stomach
39	chr12:21035400-21039000	Weak transcription	Liver	Liver
40	chr12:21035600-21036200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:21035600-21036600	Enhancers	Rectal Smooth Muscle	rectum
42	chr12:21035600-21037800	Enhancers	Colon Smooth Muscle	Colon
43	chr12:21035800-21036600	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr12:21035800-21037000	Enhancers	Adipose Nuclei	Adipose
45	chr12:21035800-21037600	Enhancers	HUVEC	blood vessel
46	chr12:21035800-21038200	Enhancers	A549	lung
47	chr12:21038200-21038400	Flanking Active TSS	A549	lung
48	chr12:21038400-21038800	Enhancers	A549	lung
49	chr12:21038800-21040600	Weak transcription	A549	lung
50	chr12:21039000-21040000	Strong transcription	Liver	Liver

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