Variant report

Variant	nsv1048441
Chromosome Location	chr12:8554391-8594882
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:60)
CpG islands
(count:856)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:60 , 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	chr12:8572180-8572478	A549	lung:	n/a	n/a
3	CTCF	chr12:8572320-8572470	HFF	foreskin:	n/a	n/a
4	CTCF	chr12:8572203-8572435	A549	lung:	n/a	n/a
5	CTCF	chr12:8594350-8594390	LNCaP	prostate:	n/a	n/a
6	CTCF	chr12:8572237-8572391	A549	lung:	n/a	n/a
7	CTCF	chr12:8575566-8575634	Lung_OC	lung:	n/a	n/a
8	CTCF	chr12:8572280-8572430	HRE	kidney:	n/a	n/a
9	CTCF	chr12:8572356-8572431	GM19238	blood:	n/a	n/a
10	CTCF	chr12:8572330-8572427	Fibrobl	skin:	n/a	n/a
11	CTCF	chr12:8572339-8572426	GM12878	blood:	n/a	n/a
12	CTCF	chr12:8572215-8572507	K562	blood:	n/a	n/a
13	CTCF	chr12:8572280-8572430	WERI-Rb-1	eye:	n/a	n/a
14	CTCF	chr12:8572221-8572419	K562	blood:	n/a	n/a
15	CTCF	chr12:8572661-8572667	GM19239	blood:	n/a	n/a
16	CTCF	chr12:8572271-8572506	Lung_OC	lung:	n/a	n/a
17	CTCF	chr12:8572668-8572710	GM19239	blood:	n/a	n/a
18	CTCF	chr12:8571966-8572064	GM19240	blood:	n/a	n/a
19	CTCF	chr12:8591390-8591459	GM10248	blood:	n/a	n/a
20	CTCF	chr12:8572220-8572370	HRE	kidney:	n/a	n/a
21	CTCF	chr12:8566190-8566223	Fibrobl	skin:	n/a	n/a
22	CTCF	chr12:8572260-8572410	NB4	blood:	n/a	n/a
23	CTCF	chr12:8572222-8572474	GM19239	blood:	n/a	n/a
24	CTCF	chr12:8572343-8572432	GM12891	blood:	n/a	n/a
25	CTCF	chr12:8572198-8572492	GM19240	blood:	n/a	n/a
26	FOSL2	chr12:8572158-8572492	HepG2	liver:	n/a	n/a
27	GABPA	chr12:8559462-8559663	HepG2	liver:	n/a	n/a
28	GABPA	chr12:8559430-8559647	Hela-S3	cervix:	n/a	n/a
29	HEY1	chr12:8573011-8573129	HepG2	liver:	n/a	n/a
30	IRF4	chr12:8558399-8558655	GM12878	blood:	n/a	n/a
31	NFYB	chr12:8557445-8557758	K562	blood:	n/a	n/a
32	PBX3	chr12:8579279-8579450	GM12878	blood:	n/a	n/a
33	PBX3	chr12:8579524-8579941	GM12878	blood:	n/a	n/a
34	PBX3	chr12:8577350-8577526	GM12878	blood:	n/a	n/a
35	PBX3	chr12:8578295-8578471	GM12878	blood:	n/a	n/a
36	POLR2A	chr12:8579590-8579793	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr12:8583826-8583952	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr12:8582043-8582651	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr12:8582280-8582579	H1-hESC	embryonic stem cell:	n/a	n/a
40	RAD21	chr12:8594359-8594474	H1-hESC	embryonic stem cell:	n/a	n/a
41	RAD21	chr12:8594305-8594505	H1-hESC	embryonic stem cell:	n/a	n/a
42	SIX5	chr12:8558435-8558640	K562	blood:	n/a	n/a
43	SIX5	chr12:8558439-8558803	GM12878	blood:	n/a	n/a
44	SIX5	chr12:8558361-8558670	K562	blood:	n/a	n/a
45	SP1	chr12:8558433-8558646	GM12878	blood:	n/a	n/a
46	SP1	chr12:8572905-8573170	HepG2	liver:	n/a	n/a
47	SPI1	chr12:8562245-8562349	K562	blood:	n/a	n/a
48	SPI1	chr12:8584416-8584538	K562	blood:	n/a	n/a
49	TCF3	chr12:8579004-8579996	GM12878	blood:	n/a	n/a
50	USF1	chr12:8558439-8558679	HepG2	liver:	n/a	chr12:8558580-8558591

(count:856 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:8559701-8559751	HPAEpiC	pulmonary alveolar:	n/a
2	chr12:8575691-8575741	BJ	skin:	n/a
3	chr12:8559701-8559751	HPAEpiC	pulmonary alveolar:	n/a
4	chr12:8575691-8575741	BJ	skin:	n/a
5	chr12:8594653-8594703	RPTEC	kidney:	n/a
6	chr12:8557855-8557905	HEK293	kidney:	embryo
7	chr12:8562937-8562987	HepG2	liver:	n/a
8	chr12:8594653-8594703	Caco-2	colon:	n/a
9	chr12:8576728-8576778	HMEC	breast:	n/a
10	chr12:8570210-8570260	PANC-1	pancreas:	n/a
11	chr12:8576728-8576778	HRE	kidney:	n/a
12	chr12:8571692-8571742	AoSMC	blood vessel:	n/a
13	chr12:8575139-8575189	GM12891	blood:	n/a
14	chr12:8575533-8575583	MCF-7	breast:	n/a
15	chr12:8571692-8571742	GM12892	blood:	n/a
16	chr12:8557855-8557905	GM12892	blood:	n/a
17	chr12:8594653-8594703	AoSMC	blood vessel:	n/a
18	chr12:8575533-8575583	HCT-116	colon:	n/a
19	chr12:8571692-8571742	NB4	blood:	n/a
20	chr12:8562937-8562987	A549	lung:	n/a
21	chr12:8570268-8570318	IMR90	lung:	fetal
22	chr12:8576728-8576778	MCF10A-Er-Src	breast:	n/a
23	chr12:8575691-8575741	NB4	blood:	n/a
24	chr12:8575533-8575583	PFSK-1	brain:	n/a
25	chr12:8575139-8575189	A549	lung:	n/a
26	chr12:8594653-8594703	HCF	heart:	n/a
27	chr12:8559701-8559751	HMEC	breast:	n/a
28	chr12:8559628-8559678	MCF10A-Er-Src	breast:	n/a
29	chr12:8575533-8575583	SAEC	small airway:	n/a
30	chr12:8570210-8570260	HRE	kidney:	n/a
31	chr12:8559779-8559829	HAEpiC	amniotic membrane:	n/a
32	chr12:8575691-8575741	IMR90	lung:	fetal
33	chr12:8575533-8575583	ProgFib	skin:	n/a
34	chr12:8571374-8571424	BE2_C	brain:	n/a
35	chr12:8559779-8559829	HRPEpiC	eye:	n/a
36	chr12:8570268-8570318	H1-hESC	embryonic stem cell:	embryo
37	chr12:8562937-8562987	SK-N-SH	brain:	n/a
38	chr12:8562937-8562987	GM06990	blood:	n/a
39	chr12:8557855-8557905	SK-N-MC	brain:	n/a
40	chr12:8594653-8594703	Hepatocyte	liver:	n/a
41	chr12:8557855-8557905	CMK	blood:	n/a
42	chr12:8559628-8559678	HEK293	kidney:	embryo
43	chr12:8575139-8575189	HIPEpiC	eye:	n/a
44	chr12:8576728-8576778	NHBE	bronchial:	n/a
45	chr12:8575533-8575583	NB4	blood:	n/a
46	chr12:8562937-8562987	HEEpiC	esophagus:	n/a
47	chr12:8559628-8559678	CMK	blood:	n/a
48	chr12:8594653-8594703	AG10803	skin:	n/a
49	chr12:8559628-8559678	SAEC	small airway:	n/a
50	chr12:8594653-8594703	NB4	blood:	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: 400 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:400 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183740021	chr12:8554449-8554450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs71450662	chr12:8554478-8554479	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs7133813	chr12:8554479-8554480	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs188407625	chr12:8554486-8554487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112781230	chr12:8554543-8554544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7302660	chr12:8554552-8554553	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs9668694	chr12:8555442-8555443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374355445	chr12:8555502-8555503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11513205	chr12:8555616-8555617	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs537967996	chr12:8555620-8555621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9795817	chr12:8555666-8555667	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs11513206	chr12:8555691-8555692	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs112534913	chr12:8555700-8555701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539804255	chr12:8555752-8555753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10841475	chr12:8555810-8555811	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs113680075	chr12:8555938-8555939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10841476	chr12:8555945-8555946	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs35270981	chr12:8555967-8555968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs28519455	chr12:8555992-8555993	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs35473657	chr12:8556051-8556052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35951242	chr12:8556093-8556094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10770634	chr12:8556097-8556098	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs182908162	chr12:8556111-8556112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112129906	chr12:8556175-8556176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10770635	chr12:8556205-8556206	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs144784836	chr12:8556224-8556225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs36046744	chr12:8556236-8556237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375683148	chr12:8556254-8556255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150958774	chr12:8556258-8556259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529077699	chr12:8556296-8556297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369611625	chr12:8556317-8556318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542328680	chr12:8556342-8556343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374294247	chr12:8556400-8556401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7976464	chr12:8556413-8556414	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs527690427	chr12:8556432-8556433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547523577	chr12:8556502-8556503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570851554	chr12:8556578-8556579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566561335	chr12:8556685-8556686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188612082	chr12:8556710-8556711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4883138	chr12:8556717-8556718	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs192301684	chr12:8556731-8556732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4883139	chr12:8556740-8556741	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs4883140	chr12:8556789-8556790	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs183022721	chr12:8556792-8556793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4883141	chr12:8556802-8556803	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs187644895	chr12:8556835-8556836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111580960	chr12:8556900-8556901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145582820	chr12:8556918-8556919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146506554	chr12:8556929-8556930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374621523	chr12:8556930-8556931	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8554400-8554600	Enhancers	H1 Cell Line	embryonic stem cell
2	chr12:8555400-8559600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr12:8592200-8593800	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr12:8593800-8594600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr12:8594400-8603400	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr12:8594600-8601800	Weak transcription	Monocytes-CD14+_RO01746	blood

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