Variant report

Variant	nsv898865
Chromosome Location	chr12:20985903-21034865
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:98)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:98 , 50 per page) page: 1 2

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	chr12:20991943-20992076	A549	lung:	n/a	chr12:20992038-20992049
4	CEBPB	chr12:20991877-20992081	HepG2	liver:	n/a	chr12:20992038-20992049
5	CEBPB	chr12:21015510-21015751	A549	lung:	n/a	n/a
6	CTCF	chr12:21022151-21022264	GM19240	blood:	n/a	n/a
7	CTCF	chr12:21022178-21022245	GM19238	blood:	n/a	n/a
8	CTCF	chr12:21022085-21022282	A549	lung:	n/a	n/a
9	CTCF	chr12:21022153-21022253	MCF-7	breast:	n/a	n/a
10	CTCF	chr12:20988752-20988806	GM10266	blood:	n/a	n/a
11	CTCF	chr12:21022145-21022262	Gliobla	brain:	n/a	n/a
12	CTCF	chr12:21016018-21016303	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr12:21016080-21016230	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr12:21009478-21009610	LNCaP	prostate:	n/a	n/a
15	CTCF	chr12:21009590-21009613	GM20000	blood:	n/a	n/a
16	CTCF	chr12:21022147-21022255	ProgFib	skin:	n/a	n/a
17	CTCF	chr12:20989086-20989127	GM10248	blood:	n/a	n/a
18	CTCF	chr12:21022142-21022253	GM12892	blood:	n/a	n/a
19	CTCF	chr12:21022146-21022257	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr12:21009320-21009470	A549	lung:	n/a	n/a
21	CTCF	chr12:21022158-21022249	HUVEC	blood vessel:	n/a	n/a
22	CTCF	chr12:21022144-21022253	K562	blood:	n/a	n/a
23	CTCF	chr12:21022131-21022252	MCF-7	breast:	n/a	n/a
24	CTCF	chr12:21022130-21022264	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr12:21022147-21022253	NHEK	skin:	n/a	n/a
26	CTCF	chr12:21016100-21016250	Caco-2	colon:	n/a	n/a
27	CTCF	chr12:20994140-20994290	A549	lung:	n/a	n/a
28	CTCF	chr12:21022153-21022245	GM12878	blood:	n/a	n/a
29	CTCF	chr12:21016167-21016176	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr12:21009487-21009574	LNCaP	prostate:	n/a	n/a
31	CTCF	chr12:21009530-21009554	MCF-7	breast:	n/a	n/a
32	CTCF	chr12:21009546-21009596	A549	lung:	n/a	n/a
33	CTCF	chr12:21022169-21022257	GM12891	blood:	n/a	n/a
34	CTCF	chr12:21022138-21022262	Fibrobl	skin:	n/a	n/a
35	CTCF	chr12:21022128-21022267	A549	lung:	n/a	n/a
36	CTCF	chr12:21016151-21016207	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr12:21022044-21022354	A549	lung:	n/a	n/a
38	CTCF	chr12:20988781-20988802	GM13976	blood:	n/a	n/a
39	CTCF	chr12:21022154-21022253	MCF-7	breast:	n/a	n/a
40	CTCF	chr12:21022069-21022308	A549	lung:	n/a	n/a
41	CUX1	chr12:21006808-21006809	GM12878	blood:	n/a	n/a
42	E2F4	chr12:21028358-21028495	MCF10A-Er-Src	breast:	n/a	n/a
43	EBF1	chr12:21021916-21022148	GM12878	blood:	n/a	n/a
44	EBF1	chr12:21021960-21022218	GM12878	blood:	n/a	n/a
45	EBF1	chr12:21021205-21021501	GM12878	blood:	n/a	n/a
46	EP300	chr12:21007924-21007986	K562	blood:	n/a	chr12:21007935-21007949
47	EP300	chr12:21021318-21021458	GM12878	blood:	n/a	n/a
48	EP300	chr12:21021318-21021497	GM12878	blood:	n/a	n/a
49	FAM48A	chr12:21027884-21027991	GM12878	blood:	n/a	n/a
50	FOS	chr12:21018820-21019115	MCF10A-Er-Src	breast:	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	SK-N-SH	brain:	n/a
2	chr12:21014317-21014367	AG04449	skin:	fetal
3	chr12:21015340-21015390	K562	blood:	n/a
4	chr12:21014317-21014367	ovcar-3	ovarian:	n/a
5	chr12:21015340-21015390	Jurkat	blood:	n/a
6	chr12:21014317-21014367	HEK293	kidney:	embryo
7	chr12:21015340-21015390	HPAEpiC	pulmonary alveolar:	n/a
8	chr12:21015340-21015390	GM12878	blood:	n/a
9	chr12:21014317-21014367	PFSK-1	brain:	n/a
10	chr12:21015340-21015390	AG09309	skin:	n/a
11	chr12:21014317-21014367	NHBE	bronchial:	n/a
12	chr12:21014317-21014367	SK-N-MC	brain:	n/a
13	chr12:21014317-21014367	PANC-1	pancreas:	n/a
14	chr12:21015340-21015390	ovcar-3	ovarian:	n/a
15	chr12:21014317-21014367	HCT-116	colon:	n/a
16	chr12:21014317-21014367	HRPEpiC	eye:	n/a
17	chr12:21014317-21014367	MCF-7	breast:	n/a
18	chr12:21015340-21015390	PrEC	prostate:	n/a
19	chr12:21014317-21014367	HMEC	breast:	n/a
20	chr12:21015340-21015390	HRE	kidney:	n/a
21	chr12:21014317-21014367	MCF10A-Er-Src	breast:	n/a
22	chr12:21014317-21014367	ECC-1	luminal epithelium:	n/a
23	chr12:21014317-21014367	HCPEpiC	choroid plexus:	n/a
24	chr12:21015340-21015390	H1-hESC	embryonic stem cell:	embryo
25	chr12:21014317-21014367	ProgFib	skin:	n/a
26	chr12:21015340-21015390	AG09319	gingival:	n/a
27	chr12:21015340-21015390	NB4	blood:	n/a
28	chr12:21014317-21014367	K562	blood:	n/a
29	chr12:21015340-21015390	NT2-D1	testis:	n/a
30	chr12:21015340-21015390	HepG2	liver:	n/a
31	chr12:21015340-21015390	RPTEC	kidney:	n/a
32	chr12:21015340-21015390	AG04450	lung:	fetal
33	chr12:21015340-21015390	U87	brain:	n/a
34	chr12:21014317-21014367	HIPEpiC	eye:	n/a
35	chr12:21015340-21015390	LNCaP	prostate:	n/a
36	chr12:21015340-21015390	SK-N-SH_RA	brain:	n/a
37	chr12:21014317-21014367	PrEC	prostate:	n/a
38	chr12:21014317-21014367	A549	lung:	n/a
39	chr12:21015340-21015390	CMK	blood:	n/a
40	chr12:21014317-21014367	BE2_C	brain:	n/a
41	chr12:21015340-21015390	Hepatocyte	liver:	n/a
42	chr12:21015340-21015390	GM06990	blood:	n/a
43	chr12:21014317-21014367	T-47D	breast:	n/a
44	chr12:21014317-21014367	HEEpiC	esophagus:	n/a
45	chr12:21014317-21014367	Caco-2	colon:	n/a
46	chr12:21015340-21015390	ECC-1	luminal epithelium:	n/a
47	chr12:21015340-21015390	NH-A	brain:	n/a
48	chr12:21014317-21014367	HRCEpiC	kidney:	n/a
49	chr12:21014317-21014367	NHDF-neo	bronchial:	n/a
50	chr12:21015340-21015390	A549	lung:	n/a

No data

Variant related genes	Relation type
SLCO1B3	TF binding region
ENSG00000256157	TF binding region
SLCO1B3	CpG island
ENSG00000256157	CpG island

Extended variants
information (count: 2362 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:2362 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10841662	chr12:20985903-20985904	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs570167812	chr12:20985935-20985936	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs539070923	chr12:20985943-20985944	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs116150874	chr12:20985977-20985978	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs189588259	chr12:20986022-20986023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192275665	chr12:20986044-20986045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140234104	chr12:20986052-20986053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12824927	chr12:20986061-20986062	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs185865142	chr12:20986076-20986077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558286851	chr12:20986079-20986080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs578118649	chr12:20986084-20986085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543918121	chr12:20986087-20986088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551127130	chr12:20986110-20986111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571338242	chr12:20986112-20986113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372594767	chr12:20986152-20986153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200017217	chr12:20986155-20986156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78409307	chr12:20986159-20986160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542145954	chr12:20986202-20986203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189137719	chr12:20986222-20986223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11045537	chr12:20986252-20986253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527482578	chr12:20986259-20986260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375513815	chr12:20986275-20986276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563858060	chr12:20986340-20986341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549997566	chr12:20986369-20986370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569006778	chr12:20986408-20986409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369856531	chr12:20986429-20986430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181569264	chr12:20986431-20986432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12825751	chr12:20986451-20986452	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs528875025	chr12:20986454-20986455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568081672	chr12:20986455-20986456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535802932	chr12:20986457-20986458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549660884	chr12:20986470-20986471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149877438	chr12:20986474-20986475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34356065	chr12:20986487-20986488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184212087	chr12:20986491-20986492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535244102	chr12:20986502-20986503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12827316	chr12:20986515-20986516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11045538	chr12:20986534-20986535	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs376908316	chr12:20986537-20986538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs72296502	chr12:20986604-20986605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200705181	chr12:20986605-20986606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12825962	chr12:20986610-20986611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200187186	chr12:20986617-20986618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10770746	chr12:20986618-20986619	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs573986787	chr12:20986623-20986624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188641761	chr12:20986626-20986627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542606019	chr12:20986661-20986662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558844299	chr12:20986668-20986669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563394246	chr12:20986669-20986670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34626501	chr12:20986670-20986671	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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20983400-20996400	Weak transcription	Hela-S3	cervix
2	chr12:20983600-20995600	Weak transcription	Liver	Liver
3	chr12:20985400-20986000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:20985600-20986000	Flanking Active TSS	A549	lung
5	chr12:20985600-20986200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr12:20985800-20986200	Enhancers	Brain Substantia Nigra	brain
7	chr12:20986000-20986200	Enhancers	Brain Cingulate Gyrus	brain
8	chr12:20986000-20986200	Enhancers	A549	lung
9	chr12:20986000-20987800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:20986200-20990800	Weak transcription	A549	lung
11	chr12:20987600-20987800	Enhancers	Pancreas	Pancrea
12	chr12:20987800-20988200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:20995600-20996000	ZNF genes & repeats	Liver	Liver
14	chr12:20995600-20996000	ZNF genes & repeats	A549	lung
15	chr12:20996000-20997400	Weak transcription	A549	lung
16	chr12:20996000-21004800	Weak transcription	Liver	Liver
17	chr12:20997400-20997600	ZNF genes & repeats	A549	lung
18	chr12:20997600-20999200	Weak transcription	A549	lung
19	chr12:20999200-20999600	ZNF genes & repeats	A549	lung
20	chr12:21004800-21005000	ZNF genes & repeats	Liver	Liver
21	chr12:21006200-21011000	Weak transcription	Liver	Liver
22	chr12:21006600-21018000	Weak transcription	A549	lung
23	chr12:21007200-21007800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr12:21007400-21007800	Enhancers	H1 Cell Line	embryonic stem cell
25	chr12:21007400-21007800	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr12:21007400-21008200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr12:21007600-21008000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr12:21011000-21014600	Strong transcription	Liver	Liver
29	chr12:21014600-21015400	Weak transcription	Liver	Liver
30	chr12:21015400-21018400	Strong transcription	Liver	Liver
31	chr12:21017800-21019200	Enhancers	HUVEC	blood vessel
32	chr12:21018000-21018200	Strong transcription	A549	lung
33	chr12:21018200-21018800	Weak transcription	A549	lung
34	chr12:21018400-21020800	Weak transcription	Liver	Liver
35	chr12:21018800-21020600	Strong transcription	A549	lung
36	chr12:21019800-21020000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:21020000-21020400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:21020000-21020600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:21020600-21021600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:21020600-21027400	Weak transcription	A549	lung
41	chr12:21020800-21021200	Strong transcription	Liver	Liver
42	chr12:21020800-21021600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:21021200-21024600	Weak transcription	Liver	Liver
44	chr12:21021600-21022200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:21024600-21026200	Strong transcription	Liver	Liver
46	chr12:21026200-21027800	Weak transcription	Liver	Liver
47	chr12:21027400-21028400	Strong transcription	A549	lung
48	chr12:21027800-21029600	Strong transcription	Liver	Liver
49	chr12:21028400-21035800	Weak transcription	A549	lung
50	chr12:21029600-21032400	Weak transcription	Liver	Liver

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