Variant report

Variant	nsv1045164
Chromosome Location	chr12:8552522-8595531
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:61)
CpG islands
(count:855)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr12:8572227-8572466	GM12878	blood:	n/a	n/a
2	CTCF	chr12:8591390-8591459	GM10248	blood:	n/a	n/a
3	CTCF	chr12:8572237-8572391	A549	lung:	n/a	n/a
4	CTCF	chr12:8594350-8594390	LNCaP	prostate:	n/a	n/a
5	CTCF	chr12:8572260-8572410	NB4	blood:	n/a	n/a
6	CTCF	chr12:8572198-8572492	GM19240	blood:	n/a	n/a
7	CTCF	chr12:8572320-8572470	HFF	foreskin:	n/a	n/a
8	CTCF	chr12:8572180-8572478	A549	lung:	n/a	n/a
9	CTCF	chr12:8575566-8575634	Lung_OC	lung:	n/a	n/a
10	CTCF	chr12:8572330-8572427	Fibrobl	skin:	n/a	n/a
11	CTCF	chr12:8572343-8572432	GM12891	blood:	n/a	n/a
12	CTCF	chr12:8572661-8572667	GM19239	blood:	n/a	n/a
13	CTCF	chr12:8571966-8572064	GM19240	blood:	n/a	n/a
14	CTCF	chr12:8572221-8572419	K562	blood:	n/a	n/a
15	CTCF	chr12:8572280-8572430	HRE	kidney:	n/a	n/a
16	CTCF	chr12:8572356-8572431	GM19238	blood:	n/a	n/a
17	CTCF	chr12:8572668-8572710	GM19239	blood:	n/a	n/a
18	CTCF	chr12:8572222-8572474	GM19239	blood:	n/a	n/a
19	CTCF	chr12:8572339-8572426	GM12878	blood:	n/a	n/a
20	CTCF	chr12:8554183-8554229	GM10248	blood:	n/a	n/a
21	CTCF	chr12:8572280-8572430	WERI-Rb-1	eye:	n/a	n/a
22	CTCF	chr12:8566190-8566223	Fibrobl	skin:	n/a	n/a
23	CTCF	chr12:8572220-8572370	HRE	kidney:	n/a	n/a
24	CTCF	chr12:8572215-8572507	K562	blood:	n/a	n/a
25	CTCF	chr12:8572271-8572506	Lung_OC	lung:	n/a	n/a
26	CTCF	chr12:8572203-8572435	A549	lung:	n/a	n/a
27	FOSL2	chr12:8572158-8572492	HepG2	liver:	n/a	n/a
28	GABPA	chr12:8559430-8559647	Hela-S3	cervix:	n/a	n/a
29	GABPA	chr12:8559462-8559663	HepG2	liver:	n/a	n/a
30	HEY1	chr12:8573011-8573129	HepG2	liver:	n/a	n/a
31	IRF4	chr12:8558399-8558655	GM12878	blood:	n/a	n/a
32	NFYB	chr12:8557445-8557758	K562	blood:	n/a	n/a
33	PBX3	chr12:8579524-8579941	GM12878	blood:	n/a	n/a
34	PBX3	chr12:8578295-8578471	GM12878	blood:	n/a	n/a
35	PBX3	chr12:8579279-8579450	GM12878	blood:	n/a	n/a
36	PBX3	chr12:8577350-8577526	GM12878	blood:	n/a	n/a
37	POLR2A	chr12:8582043-8582651	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr12:8582280-8582579	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr12:8583826-8583952	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr12:8579590-8579793	H1-hESC	embryonic stem cell:	n/a	n/a
41	RAD21	chr12:8594359-8594474	H1-hESC	embryonic stem cell:	n/a	n/a
42	RAD21	chr12:8594305-8594505	H1-hESC	embryonic stem cell:	n/a	n/a
43	SIX5	chr12:8558435-8558640	K562	blood:	n/a	n/a
44	SIX5	chr12:8558361-8558670	K562	blood:	n/a	n/a
45	SIX5	chr12:8558439-8558803	GM12878	blood:	n/a	n/a
46	SP1	chr12:8558433-8558646	GM12878	blood:	n/a	n/a
47	SP1	chr12:8572905-8573170	HepG2	liver:	n/a	n/a
48	SPI1	chr12:8562245-8562349	K562	blood:	n/a	n/a
49	SPI1	chr12:8584416-8584538	K562	blood:	n/a	n/a
50	TCF3	chr12:8579004-8579996	GM12878	blood:	n/a	n/a

(count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:8562937-8562987	AG04450	lung:	fetal
2	chr12:8562937-8562987	AG04450	lung:	fetal
3	chr12:8559779-8559829	HAEpiC	amniotic membrane:	n/a
4	chr12:8571692-8571742	GM12878	blood:	n/a
5	chr12:8576728-8576778	HEEpiC	esophagus:	n/a
6	chr12:8559701-8559751	GM12891	blood:	n/a
7	chr12:8571692-8571742	HUVEC	blood vessel:	n/a
8	chr12:8570268-8570318	NHDF-neo	bronchial:	n/a
9	chr12:8575533-8575583	HMEC	breast:	n/a
10	chr12:8562937-8562987	GM12891	blood:	n/a
11	chr12:8559779-8559829	HCF	heart:	n/a
12	chr12:8557855-8557905	Jurkat	blood:	n/a
13	chr12:8576728-8576778	HRPEpiC	eye:	n/a
14	chr12:8594653-8594703	SK-N-MC	brain:	n/a
15	chr12:8575691-8575741	HRPEpiC	eye:	n/a
16	chr12:8576728-8576778	Hela-S3	cervix:	n/a
17	chr12:8575533-8575583	IMR90	lung:	fetal
18	chr12:8559628-8559678	A549	lung:	n/a
19	chr12:8570210-8570260	HCF	heart:	n/a
20	chr12:8594653-8594703	GM12891	blood:	n/a
21	chr12:8559701-8559751	HAEpiC	amniotic membrane:	n/a
22	chr12:8562937-8562987	HepG2	liver:	n/a
23	chr12:8559628-8559678	HEK293	kidney:	embryo
24	chr12:8559779-8559829	NT2-D1	testis:	n/a
25	chr12:8575139-8575189	PFSK-1	brain:	n/a
26	chr12:8559628-8559678	NT2-D1	testis:	n/a
27	chr12:8571692-8571742	GM19239	blood:	n/a
28	chr12:8571692-8571742	AG04450	lung:	fetal
29	chr12:8570210-8570260	H1-hESC	embryonic stem cell:	embryo
30	chr12:8575533-8575583	ovcar-3	ovarian:	n/a
31	chr12:8559701-8559751	HL-60	blood:	n/a
32	chr12:8559628-8559678	HCPEpiC	choroid plexus:	n/a
33	chr12:8576728-8576778	K562	blood:	n/a
34	chr12:8576728-8576778	PFSK-1	brain:	n/a
35	chr12:8570210-8570260	GM19239	blood:	n/a
36	chr12:8559701-8559751	SKMC	muscle:	n/a
37	chr12:8575533-8575583	HAEpiC	amniotic membrane:	n/a
38	chr12:8576728-8576778	MCF-7	breast:	n/a
39	chr12:8576728-8576778	AG04449	skin:	fetal
40	chr12:8571374-8571424	HNPCEpiC	eye:	n/a
41	chr12:8557855-8557905	AG09319	gingival:	n/a
42	chr12:8562937-8562987	ECC-1	luminal epithelium:	n/a
43	chr12:8559701-8559751	BJ	skin:	n/a
44	chr12:8571374-8571424	HEEpiC	esophagus:	n/a
45	chr12:8575691-8575741	HMEC	breast:	n/a
46	chr12:8571374-8571424	AG10803	skin:	n/a
47	chr12:8576728-8576778	AG09309	skin:	n/a
48	chr12:8559628-8559678	SKMC	muscle:	n/a
49	chr12:8570210-8570260	IMR90	lung:	fetal
50	chr12:8557855-8557905	HCF	heart:	n/a

No data

Variant related genes	Relation type
OR7E140P	TF binding region
ENSG00000266218	TF binding region
LINC00937	TF binding region
OR7E148P	TF binding region
ENSG00000256136	TF binding region
OR7E149P	TF binding region
OR7E140P	CpG island
ENSG00000266218	CpG island
LINC00937	CpG island
OR7E148P	CpG island
ENSG00000256136	CpG island
OR7E149P	CpG island

Extended variants
information (count: 474 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:474 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10770628	chr12:8552522-8552523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188741694	chr12:8552547-8552548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546821921	chr12:8552563-8552564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10770629	chr12:8552602-8552603	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs180706169	chr12:8552609-8552610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185331294	chr12:8552625-8552626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148985065	chr12:8552648-8552649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558604427	chr12:8552669-8552670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10841468	chr12:8552680-8552681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182312099	chr12:8552682-8552683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186914796	chr12:8552715-8552716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191691598	chr12:8552760-8552761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs4271452	chr12:8552800-8552801	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs183748209	chr12:8552804-8552805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368679232	chr12:8552815-8552816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185323124	chr12:8552859-8552860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554850582	chr12:8552930-8552931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9795710	chr12:8552938-8552939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534219946	chr12:8552972-8552973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375382309	chr12:8552990-8552991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190134517	chr12:8553000-8553001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs61920517	chr12:8553021-8553022	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs111374760	chr12:8553046-8553047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200389081	chr12:8553049-8553050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186815219	chr12:8553063-8553064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575323560	chr12:8553087-8553088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs193243708	chr12:8553088-8553089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs146953549	chr12:8553142-8553143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544182363	chr12:8553199-8553200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs137936842	chr12:8553200-8553201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs9705923	chr12:8553291-8553292	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs370355644	chr12:8553315-8553316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374958268	chr12:8553323-8553324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184038523	chr12:8553486-8553487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530045100	chr12:8553503-8553504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546563084	chr12:8553541-8553542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189144734	chr12:8553542-8553543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192836374	chr12:8553567-8553568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112586749	chr12:8554196-8554197	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs112212423	chr12:8554201-8554202	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs183740021	chr12:8554449-8554450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs71450662	chr12:8554478-8554479	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs7133813	chr12:8554479-8554480	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs188407625	chr12:8554486-8554487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112781230	chr12:8554543-8554544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs7302660	chr12:8554552-8554553	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs9668694	chr12:8555442-8555443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374355445	chr12:8555502-8555503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11513205	chr12:8555616-8555617	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs537967996	chr12:8555620-8555621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	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
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
craniofacial dysmorphism	21918468	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Alzheimer''s disease	17160897	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	20967226	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8551200-8553400	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr12:8551600-8553200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:8551800-8552600	Enhancers	H1 Cell Line	embryonic stem cell
4	chr12:8552000-8552600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:8552400-8552600	Enhancers	H9 Cell Line	embryonic stem cell
6	chr12:8552400-8552600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:8552400-8553600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:8553200-8553400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr12:8554400-8554600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr12:8555400-8559600	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr12:8592200-8593800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr12:8593800-8594600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr12:8594400-8603400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr12:8594600-8601800	Weak transcription	Monocytes-CD14+_RO01746	blood

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