Variant report

Variant	nsv975415
Chromosome Location	chr12:48873981-48881500
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:305)
Chromatin interactive
region (count:4)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:48878702-48878818	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr12:48880780-48880930	HL-60	blood:	n/a	n/a
3	ELK1	chr12:48880467-48880542	GM12878	blood:	n/a	n/a
4	FOS	chr12:48880181-48880392	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr12:48877453-48877459	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr12:48880152-48880368	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr12:48880176-48880299	MCF10A-Er-Src	breast:	n/a	n/a
8	MYC	chr12:48880674-48880874	MCF10A-Er-Src	breast:	n/a	n/a
9	PBX3	chr12:48880503-48880666	GM12878	blood:	n/a	n/a
10	POLR2A	chr12:48878286-48878307	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr12:48875562-48875566	Gliobla	brain:	n/a	n/a
12	RUNX3	chr12:48880432-48880821	GM12878	blood:	n/a	n/a
13	STAT3	chr12:48880666-48880843	MCF10A-Er-Src	breast:	n/a	n/a
14	STAT3	chr12:48880602-48880927	MCF10A-Er-Src	breast:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:48876160-48876210	IMR90	lung:	fetal
2	chr12:48875378-48875428	CMK	blood:	n/a
3	chr12:48876160-48876210	NB4	blood:	n/a
4	chr12:48875427-48875477	HEK293	kidney:	embryo
5	chr12:48875427-48875477	A549	lung:	n/a
6	chr12:48875573-48875623	SK-N-SH	brain:	n/a
7	chr12:48876998-48877048	ECC-1	luminal epithelium:	n/a
8	chr12:48876160-48876210	HL-60	blood:	n/a
9	chr12:48876998-48877048	HPAEpiC	pulmonary alveolar:	n/a
10	chr12:48875427-48875477	HCM	heart:	n/a
11	chr12:48875573-48875623	NH-A	brain:	n/a
12	chr12:48876160-48876210	BJ	skin:	n/a
13	chr12:48876998-48877048	BJ	skin:	n/a
14	chr12:48876160-48876210	SK-N-SH_RA	brain:	n/a
15	chr12:48876998-48877048	HAEpiC	amniotic membrane:	n/a
16	chr12:48875573-48875623	T-47D	breast:	n/a
17	chr12:48875573-48875623	MCF-7	breast:	n/a
18	chr12:48876160-48876210	ECC-1	luminal epithelium:	n/a
19	chr12:48876998-48877048	AG10803	skin:	n/a
20	chr12:48875378-48875428	PFSK-1	brain:	n/a
21	chr12:48875573-48875623	HIPEpiC	eye:	n/a
22	chr12:48875378-48875428	Jurkat	blood:	n/a
23	chr12:48875427-48875477	HRPEpiC	eye:	n/a
24	chr12:48875427-48875477	HNPCEpiC	eye:	n/a
25	chr12:48875378-48875428	RPTEC	kidney:	n/a
26	chr12:48875427-48875477	K562	blood:	n/a
27	chr12:48876160-48876210	ovcar-3	ovarian:	n/a
28	chr12:48876998-48877048	Hepatocyte	liver:	n/a
29	chr12:48876998-48877048	A549	lung:	n/a
30	chr12:48875427-48875477	HAEpiC	amniotic membrane:	n/a
31	chr12:48875378-48875428	HIPEpiC	eye:	n/a
32	chr12:48876160-48876210	HCF	heart:	n/a
33	chr12:48876160-48876210	Hepatocyte	liver:	n/a
34	chr12:48876998-48877048	MCF10A-Er-Src	breast:	n/a
35	chr12:48876998-48877048	RPTEC	kidney:	n/a
36	chr12:48876998-48877048	NH-A	brain:	n/a
37	chr12:48875378-48875428	SK-N-MC	brain:	n/a
38	chr12:48876160-48876210	HPAEpiC	pulmonary alveolar:	n/a
39	chr12:48875378-48875428	HEEpiC	esophagus:	n/a
40	chr12:48875378-48875428	NHBE	bronchial:	n/a
41	chr12:48876998-48877048	MCF-7	breast:	n/a
42	chr12:48875427-48875477	CMK	blood:	n/a
43	chr12:48876998-48877048	GM19239	blood:	n/a
44	chr12:48876160-48876210	Jurkat	blood:	n/a
45	chr12:48875427-48875477	HMEC	breast:	n/a
46	chr12:48876998-48877048	HCF	heart:	n/a
47	chr12:48875427-48875477	BE2_C	brain:	n/a
48	chr12:48876998-48877048	AG09309	skin:	n/a
49	chr12:48875427-48875477	PANC-1	pancreas:	n/a
50	chr12:48876998-48877048	ProgFib	skin:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:48880500..48882865-chr12:48883478..48886344,3	K562	blood:
2	chr12:48877425..48880282-chr12:48884726..48886278,2	MCF-7	breast:
3	chr12:48880029..48882865-chr12:48884102..48887272,3	K562	blood:
4	chr12:48875260..48877080-chr12:48883909..48886028,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LALBA-1	chr12:48877070-48877303	ENSG00000258121.1
2	lnc-ANP32D-2	chr12:48880491-48880509	NONHSAT028005
3	lnc-LALBA-1	chr12:48880251-48880464	ENSG00000258121.1

No data

Variant related genes	Relation type
RPS10P20	TF binding region
C12orf54	TF binding region
RPS10P20	CpG island
C12orf54	CpG island
ENSG00000177627	chromatin interactions

Extended variants
information (count: 198 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:198 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568856831	chr12:48875262-48875263	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs546422937	chr12:48875270-48875271	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs144202385	chr12:48875277-48875278	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs76792359	chr12:48875286-48875287	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs76551064	chr12:48875341-48875342	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs34507996	chr12:48875365-48875366	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs377585217	chr12:48875373-48875374	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs192617856	chr12:48875375-48875376	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs146636914	chr12:48875378-48875379	Inactive region	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs117763816	chr12:48875379-48875380	Inactive region	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs115740617	chr12:48875428-48875429	Inactive region	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs534378273	chr12:48875559-48875560	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs149207643	chr12:48875574-48875575	Inactive region	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs577384671	chr12:48875600-48875601	Inactive region	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs566493194	chr12:48875612-48875613	Inactive region	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs539942959	chr12:48875634-48875635	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs151293371	chr12:48875707-48875708	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs576381737	chr12:48875715-48875716	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs140538574	chr12:48875807-48875808	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs561218987	chr12:48875905-48875906	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs574406442	chr12:48875916-48875917	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs535223152	chr12:48875996-48875997	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs540008803	chr12:48876031-48876032	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs559917012	chr12:48876060-48876061	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs4500527	chr12:48876080-48876081	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs552237711	chr12:48876082-48876083	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs562492659	chr12:48876091-48876092	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs531317384	chr12:48876156-48876157	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs185297600	chr12:48876161-48876162	Inactive region	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs189831230	chr12:48876183-48876184	Inactive region	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs61940776	chr12:48876212-48876213	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs2731063	chr12:48876223-48876224	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs571066304	chr12:48876224-48876225	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs11168598	chr12:48876237-48876238	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs540079971	chr12:48876248-48876249	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs111867930	chr12:48876361-48876362	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs112968876	chr12:48876362-48876363	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs77503318	chr12:48876378-48876379	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs576494792	chr12:48876386-48876387	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs192068291	chr12:48876406-48876407	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs371177559	chr12:48876451-48876452	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs111350778	chr12:48876483-48876484	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs555498807	chr12:48876507-48876508	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs145899395	chr12:48876529-48876530	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs575576846	chr12:48876565-48876566	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs540143646	chr12:48876591-48876592	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs560054484	chr12:48876592-48876593	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs576622594	chr12:48876596-48876597	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs545710402	chr12:48876622-48876623	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs562590394	chr12:48876684-48876685	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48879400-48879800	Enhancers	Esophagus	oesophagus
2	chr12:48879800-48880400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:48879800-48880400	Enhancers	NHEK	skin
4	chr12:48879800-48881200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:48880000-48880400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:48880000-48880400	Enhancers	Esophagus	oesophagus
7	chr12:48880000-48881200	Enhancers	HMEC	breast
8	chr12:48880400-48880800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:48880400-48880800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:48880400-48880800	Enhancers	GM12878-XiMat	blood
11	chr12:48880400-48881000	Flanking Active TSS	NHEK	skin
12	chr12:48880800-48882000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:48880800-48882400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:48880800-48882400	Weak transcription	GM12878-XiMat	blood
15	chr12:48881000-48882800	Enhancers	NHEK	skin
16	chr12:48881200-48881600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:48881200-48881600	Weak transcription	HMEC	breast

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