Variant report

Variant	nsv970077
Chromosome Location	chr6:12514065-12515389
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:52)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:52 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:12514595-12514976	A549	lung:	n/a	n/a
2	CTCF	chr6:12514553-12515015	A549	lung:	n/a	n/a
3	CTCF	chr6:12514673-12514966	K562	blood:	n/a	n/a
4	CTCF	chr6:12514707-12514914	A549	lung:	n/a	n/a
5	CTCF	chr6:12514674-12514931	K562	blood:	n/a	n/a
6	EP300	chr6:12514525-12514848	GM12878	blood:	n/a	n/a
7	GABPA	chr6:12514345-12514585	GM12878	blood:	n/a	n/a
8	GATA2	chr6:12514579-12514967	K562	blood:	n/a	n/a
9	GATA2	chr6:12514230-12514553	K562	blood:	n/a	n/a
10	HEY1	chr6:12514246-12514834	HepG2	liver:	n/a	n/a
11	HEY1	chr6:12514212-12514586	K562	blood:	n/a	n/a
12	HEY1	chr6:12514259-12514997	K562	blood:	n/a	n/a
13	JUND	chr6:12514708-12514849	HepG2	liver:	n/a	n/a
14	PAX5	chr6:12514725-12514940	GM12878	blood:	n/a	n/a
15	PAX5	chr6:12514707-12514952	GM12878	blood:	n/a	n/a
16	PBX3	chr6:12514475-12514680	GM12878	blood:	n/a	n/a
17	PBX3	chr6:12514713-12514892	GM12878	blood:	n/a	n/a
18	POLR2A	chr6:12514241-12514998	GM12891	blood:	n/a	n/a
19	POLR2A	chr6:12514189-12515116	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr6:12514233-12515027	GM12891	blood:	n/a	n/a
21	POLR2A	chr6:12514229-12514958	GM12891	blood:	n/a	n/a
22	POLR2A	chr6:12514277-12514984	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr6:12514277-12514894	GM12891	blood:	n/a	n/a
24	POLR2A	chr6:12514258-12515033	GM12892	blood:	n/a	n/a
25	POLR2A	chr6:12514287-12514995	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr6:12514363-12514633	MCF-7	breast:	n/a	n/a
27	POLR2A	chr6:12514233-12514651	GM12878	blood:	n/a	n/a
28	POLR2A	chr6:12514374-12514506	MCF-7	breast:	n/a	n/a
29	POLR2A	chr6:12514264-12514517	A549	lung:	n/a	n/a
30	POLR2A	chr6:12514253-12514700	GM12892	blood:	n/a	n/a
31	POLR2A	chr6:12514258-12514949	GM12878	blood:	n/a	n/a
32	POLR2A	chr6:12514272-12514988	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr6:12514338-12514500	A549	lung:	n/a	n/a
34	POLR2A	chr6:12514475-12514496	ProgFib	skin:	n/a	n/a
35	POLR2A	chr6:12514251-12514685	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr6:12514302-12514650	A549	lung:	n/a	n/a
37	POLR2A	chr6:12514723-12514965	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr6:12514097-12514963	GM12892	blood:	n/a	n/a
39	POLR2A	chr6:12514240-12514540	A549	lung:	n/a	n/a
40	POLR2A	chr6:12514514-12514548	MCF-7	breast:	n/a	n/a
41	POLR2A	chr6:12514376-12514491	Gliobla	brain:	n/a	n/a
42	POLR2A	chr6:12514266-12514993	GM12878	blood:	n/a	n/a
43	POLR2A	chr6:12514278-12514931	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr6:12514228-12515071	GM12878	blood:	n/a	n/a
45	POLR2A	chr6:12514164-12515010	GM12892	blood:	n/a	n/a
46	POU2F2	chr6:12514238-12515027	GM12878	blood:	n/a	n/a
47	SPI1	chr6:12514340-12514550	GM12878	blood:	n/a	n/a
48	TCF12	chr6:12514257-12514539	GM12878	blood:	n/a	n/a
49	TCF12	chr6:12514696-12514917	GM12878	blood:	n/a	n/a
50	USF1	chr6:12514716-12514884	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:12514489-12514539	GM12878	blood:	n/a
2	chr6:12514489-12514539	HCM	heart:	n/a
3	chr6:12514489-12514539	NHBE	bronchial:	n/a
4	chr6:12514489-12514539	HAEpiC	amniotic membrane:	n/a
5	chr6:12514489-12514539	AG09309	skin:	n/a
6	chr6:12514489-12514539	NH-A	brain:	n/a
7	chr6:12514489-12514539	HRE	kidney:	n/a
8	chr6:12514489-12514539	GM19239	blood:	n/a
9	chr6:12514489-12514539	HIPEpiC	eye:	n/a
10	chr6:12514489-12514539	MCF-7	breast:	n/a
11	chr6:12514489-12514539	HCF	heart:	n/a
12	chr6:12514489-12514539	MCF10A-Er-Src	breast:	n/a
13	chr6:12514489-12514539	LNCaP	prostate:	n/a
14	chr6:12514489-12514539	HUVEC	blood vessel:	n/a
15	chr6:12514489-12514539	HMEC	breast:	n/a
16	chr6:12514489-12514539	HepG2	liver:	n/a
17	chr6:12514489-12514539	HNPCEpiC	eye:	n/a
18	chr6:12514489-12514539	HRPEpiC	eye:	n/a
19	chr6:12514489-12514539	HCT-116	colon:	n/a
20	chr6:12514489-12514539	GM06990	blood:	n/a
21	chr6:12514489-12514539	HL-60	blood:	n/a
22	chr6:12514489-12514539	HCPEpiC	choroid plexus:	n/a
23	chr6:12514489-12514539	AG04450	lung:	fetal
24	chr6:12514489-12514539	H1-hESC	embryonic stem cell:	embryo
25	chr6:12514489-12514539	U87	brain:	n/a
26	chr6:12514489-12514539	AG10803	skin:	n/a
27	chr6:12514489-12514539	T-47D	breast:	n/a
28	chr6:12514489-12514539	RPTEC	kidney:	n/a
29	chr6:12514489-12514539	Hepatocyte	liver:	n/a
30	chr6:12514489-12514539	GM12891	blood:	n/a
31	chr6:12514489-12514539	SK-N-SH	brain:	n/a
32	chr6:12514489-12514539	GM12892	blood:	n/a
33	chr6:12514489-12514539	AG04449	skin:	fetal
34	chr6:12514489-12514539	Hela-S3	cervix:	n/a
35	chr6:12514489-12514539	A549	lung:	n/a
36	chr6:12514489-12514539	NB4	blood:	n/a
37	chr6:12514489-12514539	SK-N-SH_RA	brain:	n/a
38	chr6:12514489-12514539	SKMC	muscle:	n/a
39	chr6:12514489-12514539	NT2-D1	testis:	n/a
40	chr6:12514489-12514539	ovcar-3	ovarian:	n/a
41	chr6:12514489-12514539	BJ	skin:	n/a
42	chr6:12514489-12514539	AoSMC	blood vessel:	n/a
43	chr6:12514489-12514539	CMK	blood:	n/a
44	chr6:12514489-12514539	PANC-1	pancreas:	n/a
45	chr6:12514489-12514539	HPAEpiC	pulmonary alveolar:	n/a
46	chr6:12514489-12514539	ECC-1	luminal epithelium:	n/a
47	chr6:12514489-12514539	K562	blood:	n/a
48	chr6:12514489-12514539	BE2_C	brain:	n/a
49	chr6:12514489-12514539	Caco-2	colon:	n/a
50	chr6:12514489-12514539	SK-N-MC	brain:	n/a

No data

Variant related genes	Relation type
RPL15P3	TF binding region
RPL15P3	CpG island

Extended variants
information (count: 17 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192177950	chr6:12514098-12514099	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs533304033	chr6:12514107-12514108	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs183019076	chr6:12514125-12514126	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs374977893	chr6:12514149-12514150	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs560501987	chr6:12514157-12514158	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs529292045	chr6:12514162-12514163	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs549717301	chr6:12514224-12514225	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs145031469	chr6:12514233-12514234	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs57629940	chr6:12514234-12514235	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs12201108	chr6:12514236-12514237	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs551642048	chr6:12514244-12514245	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs571803515	chr6:12514258-12514259	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs187886671	chr6:12514260-12514261	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs371595938	chr6:12514262-12514263	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs368876022	chr6:12514263-12514264	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs539205755	chr6:12514284-12514285	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs368284059	chr6:12514303-12514304	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
small cell lung cancer	20016488	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Cancer	21183584	CNVD
Acute myeloid leukemia	18000384	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Metastatic melanoma	18483359	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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