Variant report

Variant	nsv898864
Chromosome Location	chr12:20985903-21016568
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:20991943-20992076	A549	lung:	n/a	chr12:20992038-20992049
2	CEBPB	chr12:20991877-20992081	HepG2	liver:	n/a	chr12:20992038-20992049
3	CEBPB	chr12:21015510-21015751	A549	lung:	n/a	n/a
4	CTCF	chr12:21016100-21016250	Caco-2	colon:	n/a	n/a
5	CTCF	chr12:21009320-21009470	A549	lung:	n/a	n/a
6	CTCF	chr12:21009546-21009596	A549	lung:	n/a	n/a
7	CTCF	chr12:21016080-21016230	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr12:21009487-21009574	LNCaP	prostate:	n/a	n/a
9	CTCF	chr12:21016167-21016176	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr12:20988752-20988806	GM10266	blood:	n/a	n/a
11	CTCF	chr12:20994140-20994290	A549	lung:	n/a	n/a
12	CTCF	chr12:20988781-20988802	GM13976	blood:	n/a	n/a
13	CTCF	chr12:21009590-21009613	GM20000	blood:	n/a	n/a
14	CTCF	chr12:21016018-21016303	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr12:20989086-20989127	GM10248	blood:	n/a	n/a
16	CTCF	chr12:21009530-21009554	MCF-7	breast:	n/a	n/a
17	CTCF	chr12:21009478-21009610	LNCaP	prostate:	n/a	n/a
18	CTCF	chr12:21016151-21016207	H1-hESC	embryonic stem cell:	n/a	n/a
19	CUX1	chr12:21006808-21006809	GM12878	blood:	n/a	n/a
20	EP300	chr12:21007924-21007986	K562	blood:	n/a	chr12:21007935-21007949
21	JUN	chr12:20991966-20992133	HepG2	liver:	n/a	chr12:20992039-20992052
22	JUN	chr12:21005683-21005878	HepG2	liver:	n/a	chr12:21005780-21005793
23	JUND	chr12:21005683-21005941	HepG2	liver:	n/a	n/a
24	MYC	chr12:21006302-21006464	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr12:21000478-21000629	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr12:20991534-20991624	GM12878	blood:	n/a	n/a
27	POLR2A	chr12:20987196-20987363	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr12:20992626-20992801	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr12:20991635-20991654	GM12878	blood:	n/a	n/a
30	POLR2A	chr12:21007890-21008147	H1-neurons	neurons:	n/a	n/a
31	POLR2A	chr12:21007922-21007930	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr12:20995983-20996076	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr12:21002290-21002435	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr12:20991697-20991711	GM12878	blood:	n/a	n/a
35	POLR2A	chr12:20990784-20990836	MCF10A-Er-Src	breast:	n/a	n/a
36	RAD21	chr12:21015994-21016339	H1-hESC	embryonic stem cell:	n/a	n/a
37	RAD21	chr12:21016020-21016305	H1-hESC	embryonic stem cell:	n/a	n/a
38	RAD21	chr12:21016036-21016267	H1-hESC	embryonic stem cell:	n/a	n/a
39	SETDB1	chr12:20995438-20995800	U2OS	brain:	n/a	n/a
40	STAT3	chr12:21005605-21005922	MCF10A-Er-Src	breast:	n/a	n/a
41	STAT3	chr12:20999091-20999124	MCF10A-Er-Src	breast:	n/a	n/a
42	STAT3	chr12:20999600-20999652	MCF10A-Er-Src	breast:	n/a	n/a
43	STAT3	chr12:20999509-20999734	MCF10A-Er-Src	breast:	n/a	chr12:20999670-20999678
44	STAT3	chr12:21001756-21001990	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	chr12:21015340-21015390	BJ	skin:	n/a
2	chr12:21014317-21014367	HL-60	blood:	n/a
3	chr12:21014317-21014367	MCF10A-Er-Src	breast:	n/a
4	chr12:21014317-21014367	GM12891	blood:	n/a
5	chr12:21014317-21014367	HUVEC	blood vessel:	n/a
6	chr12:21014317-21014367	GM06990	blood:	n/a
7	chr12:21014317-21014367	PFSK-1	brain:	n/a
8	chr12:21015340-21015390	HUVEC	blood vessel:	n/a
9	chr12:21015340-21015390	PrEC	prostate:	n/a
10	chr12:21014317-21014367	HepG2	liver:	n/a
11	chr12:21014317-21014367	HCF	heart:	n/a
12	chr12:21015340-21015390	SKMC	muscle:	n/a
13	chr12:21014317-21014367	HIPEpiC	eye:	n/a
14	chr12:21014317-21014367	AoSMC	blood vessel:	n/a
15	chr12:21015340-21015390	HepG2	liver:	n/a
16	chr12:21014317-21014367	AG04449	skin:	fetal
17	chr12:21015340-21015390	HRPEpiC	eye:	n/a
18	chr12:21015340-21015390	ProgFib	skin:	n/a
19	chr12:21015340-21015390	A549	lung:	n/a
20	chr12:21014317-21014367	U87	brain:	n/a
21	chr12:21015340-21015390	T-47D	breast:	n/a
22	chr12:21014317-21014367	GM12878	blood:	n/a
23	chr12:21015340-21015390	NH-A	brain:	n/a
24	chr12:21015340-21015390	AoSMC	blood vessel:	n/a
25	chr12:21014317-21014367	HMEC	breast:	n/a
26	chr12:21015340-21015390	PFSK-1	brain:	n/a
27	chr12:21015340-21015390	AG09309	skin:	n/a
28	chr12:21015340-21015390	GM06990	blood:	n/a
29	chr12:21014317-21014367	RPTEC	kidney:	n/a
30	chr12:21014317-21014367	SK-N-SH	brain:	n/a
31	chr12:21014317-21014367	SK-N-MC	brain:	n/a
32	chr12:21014317-21014367	HCPEpiC	choroid plexus:	n/a
33	chr12:21014317-21014367	A549	lung:	n/a
34	chr12:21015340-21015390	HCM	heart:	n/a
35	chr12:21014317-21014367	Jurkat	blood:	n/a
36	chr12:21014317-21014367	ProgFib	skin:	n/a
37	chr12:21014317-21014367	ovcar-3	ovarian:	n/a
38	chr12:21014317-21014367	H1-hESC	embryonic stem cell:	embryo
39	chr12:21014317-21014367	SK-N-SH_RA	brain:	n/a
40	chr12:21014317-21014367	NT2-D1	testis:	n/a
41	chr12:21015340-21015390	SK-N-SH_RA	brain:	n/a
42	chr12:21015340-21015390	H1-hESC	embryonic stem cell:	embryo
43	chr12:21014317-21014367	HPAEpiC	pulmonary alveolar:	n/a
44	chr12:21014317-21014367	AG10803	skin:	n/a
45	chr12:21015340-21015390	BE2_C	brain:	n/a
46	chr12:21014317-21014367	HRCEpiC	kidney:	n/a
47	chr12:21014317-21014367	Caco-2	colon:	n/a
48	chr12:21015340-21015390	GM12892	blood:	n/a
49	chr12:21015340-21015390	HNPCEpiC	eye:	n/a
50	chr12:21014317-21014367	HCT-116	colon:	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: 1525 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1525 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

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:30 , 50 per page) page: 1

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

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