Variant report

Variant	nsv557705
Chromosome Location	chr12:20999345-21017036
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 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	chr12:21016018-21016303	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr12:21016167-21016176	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr12:21009320-21009470	A549	lung:	n/a	n/a
5	CTCF	chr12:21016100-21016250	Caco-2	colon:	n/a	n/a
6	CTCF	chr12:21009487-21009574	LNCaP	prostate:	n/a	n/a
7	CTCF	chr12:21009546-21009596	A549	lung:	n/a	n/a
8	CTCF	chr12:21016151-21016207	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr12:21016080-21016230	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr12:21009478-21009610	LNCaP	prostate:	n/a	n/a
11	CTCF	chr12:21009530-21009554	MCF-7	breast:	n/a	n/a
12	CTCF	chr12:21009590-21009613	GM20000	blood:	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	chr12:21007890-21008147	H1-neurons	neurons:	n/a	n/a
21	POLR2A	chr12:21000478-21000629	MCF10A-Er-Src	breast:	n/a	n/a
22	RAD21	chr12:21015994-21016339	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	chr12:21016036-21016267	H1-hESC	embryonic stem cell:	n/a	n/a
25	STAT3	chr12:20999600-20999652	MCF10A-Er-Src	breast:	n/a	n/a
26	STAT3	chr12:20999509-20999734	MCF10A-Er-Src	breast:	n/a	chr12:20999670-20999678
27	STAT3	chr12:21001756-21001990	MCF10A-Er-Src	breast:	n/a	n/a
28	STAT3	chr12:21005605-21005922	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	HAEpiC	amniotic membrane:	n/a
2	chr12:21015340-21015390	NHDF-neo	bronchial:	n/a
3	chr12:21015340-21015390	T-47D	breast:	n/a
4	chr12:21014317-21014367	LNCaP	prostate:	n/a
5	chr12:21015340-21015390	HCM	heart:	n/a
6	chr12:21014317-21014367	HL-60	blood:	n/a
7	chr12:21015340-21015390	ECC-1	luminal epithelium:	n/a
8	chr12:21014317-21014367	IMR90	lung:	fetal
9	chr12:21015340-21015390	ProgFib	skin:	n/a
10	chr12:21015340-21015390	HCT-116	colon:	n/a
11	chr12:21014317-21014367	AG04450	lung:	fetal
12	chr12:21015340-21015390	RPTEC	kidney:	n/a
13	chr12:21015340-21015390	NH-A	brain:	n/a
14	chr12:21015340-21015390	GM12878	blood:	n/a
15	chr12:21015340-21015390	HEK293	kidney:	embryo
16	chr12:21014317-21014367	AG09319	gingival:	n/a
17	chr12:21015340-21015390	GM19239	blood:	n/a
18	chr12:21015340-21015390	AG09309	skin:	n/a
19	chr12:21014317-21014367	HRPEpiC	eye:	n/a
20	chr12:21015340-21015390	HRCEpiC	kidney:	n/a
21	chr12:21015340-21015390	SKMC	muscle:	n/a
22	chr12:21015340-21015390	HPAEpiC	pulmonary alveolar:	n/a
23	chr12:21014317-21014367	ProgFib	skin:	n/a
24	chr12:21014317-21014367	GM12892	blood:	n/a
25	chr12:21015340-21015390	Jurkat	blood:	n/a
26	chr12:21015340-21015390	AG04449	skin:	fetal
27	chr12:21014317-21014367	GM12891	blood:	n/a
28	chr12:21014317-21014367	HCF	heart:	n/a
29	chr12:21014317-21014367	H1-hESC	embryonic stem cell:	embryo
30	chr12:21014317-21014367	HRCEpiC	kidney:	n/a
31	chr12:21015340-21015390	U87	brain:	n/a
32	chr12:21015340-21015390	CMK	blood:	n/a
33	chr12:21014317-21014367	HMEC	breast:	n/a
34	chr12:21014317-21014367	NT2-D1	testis:	n/a
35	chr12:21015340-21015390	A549	lung:	n/a
36	chr12:21015340-21015390	SK-N-MC	brain:	n/a
37	chr12:21014317-21014367	AG10803	skin:	n/a
38	chr12:21014317-21014367	GM06990	blood:	n/a
39	chr12:21014317-21014367	U87	brain:	n/a
40	chr12:21015340-21015390	MCF-7	breast:	n/a
41	chr12:21014317-21014367	PrEC	prostate:	n/a
42	chr12:21014317-21014367	NB4	blood:	n/a
43	chr12:21015340-21015390	Hepatocyte	liver:	n/a
44	chr12:21015340-21015390	AG10803	skin:	n/a
45	chr12:21014317-21014367	HepG2	liver:	n/a
46	chr12:21014317-21014367	BE2_C	brain:	n/a
47	chr12:21014317-21014367	ovcar-3	ovarian:	n/a
48	chr12:21014317-21014367	MCF10A-Er-Src	breast:	n/a
49	chr12:21015340-21015390	HIPEpiC	eye:	n/a
50	chr12:21014317-21014367	NH-A	brain:	n/a

No data

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

Extended variants
information (count: 841 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:841 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs975657	chr12:20999345-20999346	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs376566513	chr12:20999354-20999355	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs149279648	chr12:20999364-20999365	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs577182464	chr12:20999415-20999416	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs144529062	chr12:20999523-20999524	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs563009690	chr12:20999538-20999539	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs369250928	chr12:20999573-20999574	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs530871190	chr12:20999582-20999583	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs544507937	chr12:20999596-20999597	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs111516832	chr12:20999629-20999630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2033513	chr12:20999635-20999636	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs546696337	chr12:20999652-20999653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2033514	chr12:20999663-20999664	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs78041272	chr12:20999706-20999707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35308154	chr12:20999757-20999758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199628240	chr12:20999758-20999759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532219452	chr12:20999762-20999763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551913924	chr12:20999777-20999778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568832398	chr12:20999794-20999795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563976811	chr12:20999802-20999803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2033515	chr12:20999815-20999816	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs372941759	chr12:20999819-20999820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184335712	chr12:20999825-20999826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543012792	chr12:20999831-20999832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568320478	chr12:20999846-20999847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534101126	chr12:20999865-20999866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554325536	chr12:20999887-20999888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372643007	chr12:20999903-20999904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577292604	chr12:20999945-20999946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546273129	chr12:20999998-20999999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7133202	chr12:21000010-21000011	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs576463820	chr12:21000026-21000027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7136326	chr12:21000042-21000043	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs74065260	chr12:21000064-21000065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145271059	chr12:21000096-21000097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11045555	chr12:21000144-21000145	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs375293933	chr12:21000149-21000150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs61921652	chr12:21000152-21000153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535682123	chr12:21000154-21000155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11410978	chr12:21000163-21000164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532155724	chr12:21000240-21000241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113522079	chr12:21000298-21000299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111944312	chr12:21000309-21000310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548864204	chr12:21000362-21000363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371583611	chr12:21000366-21000367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559164778	chr12:21000375-21000376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191455546	chr12:21000376-21000377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568446693	chr12:21000398-21000399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534482979	chr12:21000402-21000403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147220976	chr12:21000419-21000420	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20996000-21004800	Weak transcription	Liver	Liver
2	chr12:20999200-20999600	ZNF genes & repeats	A549	lung
3	chr12:21004800-21005000	ZNF genes & repeats	Liver	Liver
4	chr12:21006200-21011000	Weak transcription	Liver	Liver
5	chr12:21006600-21018000	Weak transcription	A549	lung
6	chr12:21007200-21007800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr12:21007400-21007800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr12:21007400-21007800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr12:21007400-21008200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr12:21007600-21008000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr12:21011000-21014600	Strong transcription	Liver	Liver
12	chr12:21014600-21015400	Weak transcription	Liver	Liver
13	chr12:21015400-21018400	Strong transcription	Liver	Liver

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