Variant report

Variant	nsv1050975
Chromosome Location	chr12:8559093-8603777
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:61)
CpG islands
(count:1776)
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	chr12:8572260-8572410	NB4	blood:	n/a	n/a
3	CTCF	chr12:8572661-8572667	GM19239	blood:	n/a	n/a
4	CTCF	chr12:8594350-8594390	LNCaP	prostate:	n/a	n/a
5	CTCF	chr12:8572320-8572470	HFF	foreskin:	n/a	n/a
6	CTCF	chr12:8572356-8572431	GM19238	blood:	n/a	n/a
7	CTCF	chr12:8572220-8572370	HRE	kidney:	n/a	n/a
8	CTCF	chr12:8572198-8572492	GM19240	blood:	n/a	n/a
9	CTCF	chr12:8598717-8598801	Kidney_OC	kidney:	n/a	n/a
10	CTCF	chr12:8571966-8572064	GM19240	blood:	n/a	n/a
11	CTCF	chr12:8572203-8572435	A549	lung:	n/a	n/a
12	CTCF	chr12:8572221-8572419	K562	blood:	n/a	n/a
13	CTCF	chr12:8572280-8572430	HRE	kidney:	n/a	n/a
14	CTCF	chr12:8591390-8591459	GM10248	blood:	n/a	n/a
15	CTCF	chr12:8572280-8572430	WERI-Rb-1	eye:	n/a	n/a
16	CTCF	chr12:8572237-8572391	A549	lung:	n/a	n/a
17	CTCF	chr12:8572215-8572507	K562	blood:	n/a	n/a
18	CTCF	chr12:8572180-8572478	A549	lung:	n/a	n/a
19	CTCF	chr12:8572339-8572426	GM12878	blood:	n/a	n/a
20	CTCF	chr12:8572222-8572474	GM19239	blood:	n/a	n/a
21	CTCF	chr12:8572330-8572427	Fibrobl	skin:	n/a	n/a
22	CTCF	chr12:8575566-8575634	Lung_OC	lung:	n/a	n/a
23	CTCF	chr12:8572343-8572432	GM12891	blood:	n/a	n/a
24	CTCF	chr12:8572668-8572710	GM19239	blood:	n/a	n/a
25	CTCF	chr12:8572271-8572506	Lung_OC	lung:	n/a	n/a
26	CTCF	chr12:8596656-8596747	GM13976	blood:	n/a	n/a
27	CTCF	chr12:8566190-8566223	Fibrobl	skin:	n/a	n/a
28	ESR1	chr12:8602180-8602489	ECC-1	luminal epithelium:	n/a	n/a
29	ESR1	chr12:8602067-8602476	ECC-1	luminal epithelium:	n/a	n/a
30	ESR1	chr12:8602053-8602495	ECC-1	luminal epithelium:	n/a	n/a
31	ESR1	chr12:8602104-8602489	ECC-1	luminal epithelium:	n/a	n/a
32	FOSL2	chr12:8572158-8572492	HepG2	liver:	n/a	n/a
33	GABPA	chr12:8559462-8559663	HepG2	liver:	n/a	n/a
34	GABPA	chr12:8559430-8559647	Hela-S3	cervix:	n/a	n/a
35	HEY1	chr12:8573011-8573129	HepG2	liver:	n/a	n/a
36	MYC	chr12:8601154-8601205	H1-hESC	embryonic stem cell:	n/a	n/a
37	NFIC	chr12:8602266-8602535	GM12878	blood:	n/a	n/a
38	PAX5	chr12:8602184-8602419	GM12878	blood:	n/a	n/a
39	PBX3	chr12:8579524-8579941	GM12878	blood:	n/a	n/a
40	PBX3	chr12:8577350-8577526	GM12878	blood:	n/a	n/a
41	PBX3	chr12:8578295-8578471	GM12878	blood:	n/a	n/a
42	PBX3	chr12:8579279-8579450	GM12878	blood:	n/a	n/a
43	POLR2A	chr12:8579590-8579793	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr12:8583826-8583952	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr12:8582280-8582579	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr12:8582043-8582651	H1-hESC	embryonic stem cell:	n/a	n/a
47	RAD21	chr12:8594305-8594505	H1-hESC	embryonic stem cell:	n/a	n/a
48	RAD21	chr12:8594359-8594474	H1-hESC	embryonic stem cell:	n/a	n/a
49	SP1	chr12:8572905-8573170	HepG2	liver:	n/a	n/a
50	SPI1	chr12:8562245-8562349	K562	blood:	n/a	n/a

(count:1776 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:8576728-8576778	SK-N-MC	brain:	n/a
2	chr12:8599952-8600002	HepG2	liver:	n/a
3	chr12:8559628-8559678	NH-A	brain:	n/a
4	chr12:8570268-8570318	ProgFib	skin:	n/a
5	chr12:8571692-8571742	HCF	heart:	n/a
6	chr12:8576728-8576778	MCF-7	breast:	n/a
7	chr12:8601085-8601135	HIPEpiC	eye:	n/a
8	chr12:8576728-8576778	SK-N-MC	brain:	n/a
9	chr12:8599952-8600002	HepG2	liver:	n/a
10	chr12:8559628-8559678	NH-A	brain:	n/a
11	chr12:8570268-8570318	ProgFib	skin:	n/a
12	chr12:8571692-8571742	HCF	heart:	n/a
13	chr12:8576728-8576778	MCF-7	breast:	n/a
14	chr12:8601085-8601135	HIPEpiC	eye:	n/a
15	chr12:8600287-8600337	HCF	heart:	n/a
16	chr12:8571692-8571742	T-47D	breast:	n/a
17	chr12:8599671-8599721	HEEpiC	esophagus:	n/a
18	chr12:8599952-8600002	GM06990	blood:	n/a
19	chr12:8596892-8596942	HCT-116	colon:	n/a
20	chr12:8571692-8571742	MCF-7	breast:	n/a
21	chr12:8597997-8598047	HMEC	breast:	n/a
22	chr12:8596844-8596894	HEEpiC	esophagus:	n/a
23	chr12:8599671-8599721	HRPEpiC	eye:	n/a
24	chr12:8570210-8570260	ProgFib	skin:	n/a
25	chr12:8571374-8571424	HCM	heart:	n/a
26	chr12:8597719-8597769	HL-60	blood:	n/a
27	chr12:8562937-8562987	NH-A	brain:	n/a
28	chr12:8562937-8562987	HNPCEpiC	eye:	n/a
29	chr12:8601421-8601471	HMEC	breast:	n/a
30	chr12:8596844-8596894	HCF	heart:	n/a
31	chr12:8559779-8559829	A549	lung:	n/a
32	chr12:8600287-8600337	HAEpiC	amniotic membrane:	n/a
33	chr12:8597596-8597646	HCM	heart:	n/a
34	chr12:8596201-8596251	HCT-116	colon:	n/a
35	chr12:8575691-8575741	IMR90	lung:	fetal
36	chr12:8601160-8601210	GM06990	blood:	n/a
37	chr12:8597997-8598047	K562	blood:	n/a
38	chr12:8598739-8598789	HCM	heart:	n/a
39	chr12:8596201-8596251	HRCEpiC	kidney:	n/a
40	chr12:8601160-8601210	HRPEpiC	eye:	n/a
41	chr12:8575533-8575583	GM12878	blood:	n/a
42	chr12:8562937-8562987	SK-N-SH_RA	brain:	n/a
43	chr12:8597997-8598047	AG09309	skin:	n/a
44	chr12:8597719-8597769	NT2-D1	testis:	n/a
45	chr12:8559701-8559751	K562	blood:	n/a
46	chr12:8575533-8575583	ECC-1	luminal epithelium:	n/a
47	chr12:8559779-8559829	PFSK-1	brain:	n/a
48	chr12:8596892-8596942	HPAEpiC	pulmonary alveolar:	n/a
49	chr12:8599149-8599199	SAEC	small airway:	n/a
50	chr12:8598739-8598789	HCT-116	colon:	n/a

No data

Variant related genes	Relation type
OR7E148P	TF binding region
CLEC6A	TF binding region
OR7E149P	TF binding region
OR7E140P	TF binding region
ENSG00000266218	TF binding region
ENSG00000256136	TF binding region
OR7E148P	CpG island
CLEC6A	CpG island
OR7E149P	CpG island
OR7E140P	CpG island
ENSG00000266218	CpG island
ENSG00000256136	CpG island

Extended variants
information (count: 591 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:591 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112913291	chr12:8559101-8559102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181394050	chr12:8559128-8559129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527479056	chr12:8559164-8559165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370637011	chr12:8559191-8559192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148555325	chr12:8559194-8559195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs199874797	chr12:8559222-8559223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184341072	chr12:8559244-8559245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189554411	chr12:8559286-8559287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368588901	chr12:8559298-8559299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12315322	chr12:8559320-8559321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181561165	chr12:8559351-8559352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185882593	chr12:8559375-8559376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191131215	chr12:8559399-8559400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs180938727	chr12:8559415-8559416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113195114	chr12:8559443-8559444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186332243	chr12:8559480-8559481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375560632	chr12:8559556-8559557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74524928	chr12:8559796-8559797	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
19	rs79096981	chr12:8559810-8559811	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
20	rs369585723	chr12:8559816-8559817	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs80120141	chr12:8559821-8559822	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs189039882	chr12:8562248-8562249	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs181603780	chr12:8562251-8562252	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs377742566	chr12:8562268-8562269	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs200546952	chr12:8562279-8562280	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs185320799	chr12:8562309-8562310	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs189397006	chr12:8570228-8570229	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
28	rs191920248	chr12:8570235-8570236	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
29	rs371266310	chr12:8570241-8570242	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
30	rs374460399	chr12:8570278-8570279	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
31	rs368751871	chr12:8570315-8570316	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
32	rs113121835	chr12:8571418-8571419	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
33	rs57136897	chr12:8571697-8571698	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
34	rs184744955	chr12:8571712-8571713	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
35	rs189607250	chr12:8571730-8571731	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
36	rs180673665	chr12:8571736-8571737	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
37	rs191728006	chr12:8571967-8571968	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs555510898	chr12:8571969-8571970	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs371679481	chr12:8571970-8571971	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs186351070	chr12:8571996-8571997	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs191194613	chr12:8572010-8572011	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs375805793	chr12:8572019-8572020	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs182194868	chr12:8572050-8572051	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs368968553	chr12:8572163-8572164	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs190833729	chr12:8572209-8572210	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs372689394	chr12:8572252-8572253	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs374992841	chr12:8572289-8572290	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs183139021	chr12:8572324-8572325	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs188832065	chr12:8572340-8572341	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs193029149	chr12:8572361-8572362	Inactive region	TF binding region	1 gene(s)	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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8555400-8559600	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr12:8592200-8593800	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr12:8593800-8594600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr12:8594400-8603400	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr12:8594600-8601800	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr12:8597200-8598000	Active TSS	A549	lung
7	chr12:8599800-8600000	Enhancers	Placenta	Placenta
8	chr12:8600000-8601000	Weak transcription	Placenta	Placenta
9	chr12:8601000-8602200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:8601000-8602200	Active TSS	Placenta	Placenta
11	chr12:8601800-8602000	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr12:8601800-8602200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:8601800-8602200	Enhancers	Pancreas	Pancrea
14	chr12:8601800-8602200	Enhancers	GM12878-XiMat	blood
15	chr12:8601800-8602400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:8601800-8602400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:8602000-8602200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr12:8602000-8602400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr12:8602000-8602400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr12:8602000-8602400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr12:8602000-8602400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr12:8602000-8602800	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr12:8602200-8602400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr12:8602200-8603400	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr12:8602200-8605400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:8602200-8615000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:8602400-8603000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr12:8602400-8605600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr12:8602400-8605600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr12:8602400-8605600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr12:8602800-8603200	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr12:8603000-8603200	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr12:8603200-8603400	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr12:8603200-8605000	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr12:8603200-8605600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr12:8603400-8603600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr12:8603400-8603800	Enhancers	Fetal Stomach	stomach
38	chr12:8603400-8605400	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr12:8603600-8604200	Active TSS	Monocytes-CD14+_RO01746	blood

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