Variant report

Variant	nsv898871
Chromosome Location	chr12:21000586-21016568
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:123)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 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
2	CTCF	chr12:21009320-21009470	A549	lung:	n/a	n/a
3	CTCF	chr12:21009530-21009554	MCF-7	breast:	n/a	n/a
4	CTCF	chr12:21009590-21009613	GM20000	blood:	n/a	n/a
5	CTCF	chr12:21016018-21016303	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr12:21009546-21009596	A549	lung:	n/a	n/a
7	CTCF	chr12:21009487-21009574	LNCaP	prostate:	n/a	n/a
8	CTCF	chr12:21016100-21016250	Caco-2	colon:	n/a	n/a
9	CTCF	chr12:21009478-21009610	LNCaP	prostate:	n/a	n/a
10	CTCF	chr12:21016167-21016176	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr12:21016151-21016207	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr12:21016080-21016230	Hela-S3	cervix:	n/a	n/a
13	CUX1	chr12:21006808-21006809	GM12878	blood:	n/a	n/a
14	EP300	chr12:21007924-21007986	K562	blood:	n/a	chr12:21007935-21007949
15	JUN	chr12:21005683-21005878	HepG2	liver:	n/a	chr12:21005780-21005793
16	JUND	chr12:21005683-21005941	HepG2	liver:	n/a	n/a
17	MYC	chr12:21006302-21006464	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr12:21007922-21007930	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr12:21002290-21002435	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr12:21000478-21000629	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr12:21007890-21008147	H1-neurons	neurons:	n/a	n/a
22	RAD21	chr12:21016036-21016267	H1-hESC	embryonic stem cell:	n/a	n/a
23	RAD21	chr12:21016020-21016305	H1-hESC	embryonic stem cell:	n/a	n/a
24	RAD21	chr12:21015994-21016339	H1-hESC	embryonic stem cell:	n/a	n/a
25	STAT3	chr12:21001756-21001990	MCF10A-Er-Src	breast:	n/a	n/a
26	STAT3	chr12:21005605-21005922	MCF10A-Er-Src	breast:	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	ovcar-3	ovarian:	n/a
2	chr12:21014317-21014367	ovcar-3	ovarian:	n/a
3	chr12:21014317-21014367	PANC-1	pancreas:	n/a
4	chr12:21014317-21014367	HepG2	liver:	n/a
5	chr12:21015340-21015390	MCF10A-Er-Src	breast:	n/a
6	chr12:21015340-21015390	AG09309	skin:	n/a
7	chr12:21014317-21014367	Jurkat	blood:	n/a
8	chr12:21014317-21014367	AG09319	gingival:	n/a
9	chr12:21015340-21015390	HCPEpiC	choroid plexus:	n/a
10	chr12:21015340-21015390	HUVEC	blood vessel:	n/a
11	chr12:21015340-21015390	LNCaP	prostate:	n/a
12	chr12:21014317-21014367	SK-N-SH	brain:	n/a
13	chr12:21014317-21014367	MCF10A-Er-Src	breast:	n/a
14	chr12:21015340-21015390	GM19239	blood:	n/a
15	chr12:21015340-21015390	T-47D	breast:	n/a
16	chr12:21015340-21015390	NHBE	bronchial:	n/a
17	chr12:21015340-21015390	NH-A	brain:	n/a
18	chr12:21014317-21014367	NT2-D1	testis:	n/a
19	chr12:21015340-21015390	NT2-D1	testis:	n/a
20	chr12:21014317-21014367	ProgFib	skin:	n/a
21	chr12:21015340-21015390	PANC-1	pancreas:	n/a
22	chr12:21014317-21014367	LNCaP	prostate:	n/a
23	chr12:21014317-21014367	HNPCEpiC	eye:	n/a
24	chr12:21015340-21015390	Hela-S3	cervix:	n/a
25	chr12:21015340-21015390	PFSK-1	brain:	n/a
26	chr12:21015340-21015390	ovcar-3	ovarian:	n/a
27	chr12:21014317-21014367	HRPEpiC	eye:	n/a
28	chr12:21014317-21014367	ECC-1	luminal epithelium:	n/a
29	chr12:21014317-21014367	K562	blood:	n/a
30	chr12:21015340-21015390	GM06990	blood:	n/a
31	chr12:21014317-21014367	HIPEpiC	eye:	n/a
32	chr12:21014317-21014367	AG04449	skin:	fetal
33	chr12:21014317-21014367	GM12878	blood:	n/a
34	chr12:21014317-21014367	HCF	heart:	n/a
35	chr12:21014317-21014367	SKMC	muscle:	n/a
36	chr12:21015340-21015390	HEEpiC	esophagus:	n/a
37	chr12:21014317-21014367	NB4	blood:	n/a
38	chr12:21015340-21015390	AG04450	lung:	fetal
39	chr12:21015340-21015390	HAEpiC	amniotic membrane:	n/a
40	chr12:21014317-21014367	PFSK-1	brain:	n/a
41	chr12:21015340-21015390	Hepatocyte	liver:	n/a
42	chr12:21014317-21014367	HRCEpiC	kidney:	n/a
43	chr12:21015340-21015390	HCF	heart:	n/a
44	chr12:21014317-21014367	HEK293	kidney:	embryo
45	chr12:21014317-21014367	GM12892	blood:	n/a
46	chr12:21015340-21015390	CMK	blood:	n/a
47	chr12:21015340-21015390	HEK293	kidney:	embryo
48	chr12:21014317-21014367	AG09309	skin:	n/a
49	chr12:21015340-21015390	BE2_C	brain:	n/a
50	chr12:21014317-21014367	H1-hESC	embryonic stem cell:	embryo

No data

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

Extended variants
information (count: 763 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:763 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1304608	chr12:21000586-21000587	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs149425950	chr12:21000632-21000633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35543005	chr12:21000633-21000634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183651687	chr12:21000637-21000638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150073509	chr12:21000642-21000643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs71043206	chr12:21000648-21000649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547808739	chr12:21000664-21000665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561342948	chr12:21000667-21000668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528013197	chr12:21000672-21000673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7137175	chr12:21000731-21000732	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs570960027	chr12:21000806-21000807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6487155	chr12:21000893-21000894	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs556053437	chr12:21000901-21000902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550311840	chr12:21000938-21000939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570196780	chr12:21000961-21000962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6487156	chr12:21000974-21000975	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs555846693	chr12:21000985-21000986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190716531	chr12:21001049-21001050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373099400	chr12:21001064-21001065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs397693709	chr12:21001065-21001066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201202654	chr12:21001066-21001067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533854576	chr12:21001131-21001132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553990230	chr12:21001132-21001133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576987876	chr12:21001181-21001182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368598760	chr12:21001184-21001185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372898078	chr12:21001198-21001199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545949223	chr12:21001209-21001210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75702242	chr12:21001223-21001224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555915881	chr12:21001226-21001227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575778189	chr12:21001234-21001235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577023737	chr12:21001239-21001240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140652639	chr12:21001308-21001309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561353588	chr12:21001353-21001354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76658007	chr12:21001397-21001398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541381060	chr12:21001476-21001477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564767360	chr12:21001491-21001492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142794821	chr12:21001519-21001520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77623573	chr12:21001529-21001530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10770751	chr12:21001546-21001547	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs10770752	chr12:21001563-21001564	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs10841671	chr12:21001568-21001569	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs565946093	chr12:21001577-21001578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534990875	chr12:21001603-21001604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs151044164	chr12:21001606-21001607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570760090	chr12:21001663-21001664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539342206	chr12:21001698-21001699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536395365	chr12:21001782-21001783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555977383	chr12:21001787-21001788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139761047	chr12:21001802-21001803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556587487	chr12:21001811-21001812	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:12 , 50 per page) page: 1

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

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