Variant report

Variant	nsv826330
Chromosome Location	chr12:37942415-37983645
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:37958944-37959289	K562	blood:	n/a	chr12:37959120-37959133 chr12:37959105-37959116 chr12:37959121-37959132 chr12:37959103-37959114
2	CEBPB	chr12:37958940-37959279	IMR90	lung:	n/a	chr12:37959120-37959133 chr12:37959105-37959116 chr12:37959121-37959132 chr12:37959103-37959114
3	CEBPB	chr12:37958947-37959272	Hela-S3	cervix:	n/a	chr12:37959120-37959133 chr12:37959105-37959116 chr12:37959121-37959132 chr12:37959103-37959114
4	CEBPB	chr12:37958976-37959270	H1-hESC	embryonic stem cell:	n/a	chr12:37959120-37959133 chr12:37959105-37959116 chr12:37959121-37959132 chr12:37959103-37959114
5	CEBPB	chr12:37958937-37959283	K562	blood:	n/a	chr12:37959120-37959133 chr12:37959105-37959116 chr12:37959121-37959132 chr12:37959103-37959114
6	CEBPB	chr12:37958942-37959282	A549	lung:	n/a	chr12:37959120-37959133 chr12:37959105-37959116 chr12:37959121-37959132 chr12:37959103-37959114
7	CEBPB	chr12:37958940-37959289	HepG2	liver:	n/a	chr12:37959120-37959133 chr12:37959105-37959116 chr12:37959121-37959132 chr12:37959103-37959114
8	CTCF	chr12:37962938-37962963	Kidney_OC	kidney:	n/a	n/a
9	CTCF	chr12:37975299-37975364	MCF-7	breast:	n/a	chr12:37975344-37975360
10	CTCF	chr12:37963737-37963739	Kidney_OC	kidney:	n/a	n/a
11	CTCF	chr12:37975290-37975385	K562	blood:	n/a	chr12:37975344-37975360
12	CTCF	chr12:37975293-37975386	LNCaP	prostate:	n/a	chr12:37975344-37975360
13	CTCF	chr12:37975289-37975375	MCF-7	breast:	n/a	chr12:37975344-37975360
14	CTCF	chr12:37951745-37951838	LNCaP	prostate:	n/a	n/a
15	CTCF	chr12:37975200-37975350	HEK293	kidney:	n/a	chr12:37975256-37975263 chr12:37975277-37975285
16	CTCF	chr12:37945605-37945645	Pancreas_OC	pancreas:	n/a	n/a
17	CTCF	chr12:37975293-37975382	MCF-7	breast:	n/a	chr12:37975344-37975360
18	CTCF	chr12:37975200-37975350	BE2_C	brain:	n/a	chr12:37975256-37975263 chr12:37975277-37975285
19	CTCF	chr12:37963606-37963736	Kidney_OC	kidney:	n/a	n/a
20	CTCF	chr12:37975294-37975382	MCF-7	breast:	n/a	chr12:37975344-37975360
21	CTCF	chr12:37947918-37948034	GM13976	blood:	n/a	n/a
22	CTCF	chr12:37975310-37975402	Medullo	brain:	n/a	chr12:37975344-37975360
23	CTCF	chr12:37959558-37959611	GM19240	blood:	n/a	n/a
24	CTCF	chr12:37975271-37975417	LNCaP	prostate:	n/a	chr12:37975344-37975360 chr12:37975277-37975285
25	EP300	chr12:37955237-37955506	GM12878	blood:	n/a	n/a
26	FOS	chr12:37958675-37958711	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr12:37958662-37958753	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr12:37959008-37959202	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr12:37959043-37959235	MCF10A-Er-Src	breast:	n/a	n/a
30	FOSL2	chr12:37960709-37961501	HepG2	liver:	n/a	n/a
31	FOSL2	chr12:37959918-37960557	HepG2	liver:	n/a	n/a
32	FOSL2	chr12:37960913-37961411	HepG2	liver:	n/a	n/a
33	FOXA1	chr12:37954119-37954472	HepG2	liver:	n/a	n/a
34	GATA2	chr12:37960690-37961257	K562	blood:	n/a	n/a
35	HEY1	chr12:37960708-37961419	K562	blood:	n/a	n/a
36	HEY1	chr12:37959778-37960328	HepG2	liver:	n/a	n/a
37	HEY1	chr12:37960673-37961548	HepG2	liver:	n/a	n/a
38	HEY1	chr12:37960129-37960298	K562	blood:	n/a	n/a
39	HEY1	chr12:37960150-37960306	HepG2	liver:	n/a	n/a
40	HEY1	chr12:37960810-37961315	K562	blood:	n/a	n/a
41	HEY1	chr12:37959931-37960109	HepG2	liver:	n/a	n/a
42	HEY1	chr12:37960660-37961391	HepG2	liver:	n/a	n/a
43	JUND	chr12:37961100-37961412	HepG2	liver:	n/a	n/a
44	JUND	chr12:37961160-37961393	HepG2	liver:	n/a	n/a
45	JUND	chr12:37960701-37961039	HepG2	liver:	n/a	n/a
46	JUND	chr12:37959937-37960070	HepG2	liver:	n/a	n/a
47	MAFK	chr12:37973824-37973892	HepG2	liver:	n/a	n/a
48	MAFK	chr12:37976829-37976985	HepG2	liver:	n/a	n/a
49	PAX5	chr12:37954184-37954494	GM12878	blood:	n/a	n/a
50	PAX5	chr12:37954192-37954523	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:37942400-37942450	BE2_C	brain:	n/a
2	chr12:37960372-37960422	GM06990	blood:	n/a
3	chr12:37942439-37942489	PFSK-1	brain:	n/a
4	chr12:37960372-37960422	NH-A	brain:	n/a
5	chr12:37942400-37942450	NT2-D1	testis:	n/a
6	chr12:37960372-37960422	H1-hESC	embryonic stem cell:	embryo
7	chr12:37960372-37960422	CMK	blood:	n/a
8	chr12:37942400-37942450	SK-N-SH	brain:	n/a
9	chr12:37960160-37960210	HL-60	blood:	n/a
10	chr12:37942400-37942450	HPAEpiC	pulmonary alveolar:	n/a
11	chr12:37960372-37960422	K562	blood:	n/a
12	chr12:37960372-37960422	Hela-S3	cervix:	n/a
13	chr12:37960372-37960422	NHDF-neo	bronchial:	n/a
14	chr12:37960160-37960210	AoSMC	blood vessel:	n/a
15	chr12:37960160-37960210	NH-A	brain:	n/a
16	chr12:37942400-37942450	GM12891	blood:	n/a
17	chr12:37960372-37960422	AG09319	gingival:	n/a
18	chr12:37960372-37960422	PANC-1	pancreas:	n/a
19	chr12:37942400-37942450	NHDF-neo	bronchial:	n/a
20	chr12:37960160-37960210	HIPEpiC	eye:	n/a
21	chr12:37960160-37960210	HCT-116	colon:	n/a
22	chr12:37960160-37960210	H1-hESC	embryonic stem cell:	embryo
23	chr12:37960372-37960422	RPTEC	kidney:	n/a
24	chr12:37942439-37942489	HNPCEpiC	eye:	n/a
25	chr12:37942400-37942450	SAEC	small airway:	n/a
26	chr12:37960372-37960422	PrEC	prostate:	n/a
27	chr12:37942439-37942489	AG04450	lung:	fetal
28	chr12:37942439-37942489	HCT-116	colon:	n/a
29	chr12:37942439-37942489	Hela-S3	cervix:	n/a
30	chr12:37942400-37942450	SK-N-MC	brain:	n/a
31	chr12:37942400-37942450	AG09309	skin:	n/a
32	chr12:37942400-37942450	PANC-1	pancreas:	n/a
33	chr12:37942439-37942489	LNCaP	prostate:	n/a
34	chr12:37960372-37960422	GM19239	blood:	n/a
35	chr12:37960372-37960422	AG04450	lung:	fetal
36	chr12:37960372-37960422	Caco-2	colon:	n/a
37	chr12:37942439-37942489	HRE	kidney:	n/a
38	chr12:37942439-37942489	NB4	blood:	n/a
39	chr12:37942400-37942450	ECC-1	luminal epithelium:	n/a
40	chr12:37942400-37942450	H1-hESC	embryonic stem cell:	embryo
41	chr12:37942439-37942489	SK-N-SH_RA	brain:	n/a
42	chr12:37942400-37942450	Caco-2	colon:	n/a
43	chr12:37942400-37942450	HAEpiC	amniotic membrane:	n/a
44	chr12:37960372-37960422	AG10803	skin:	n/a
45	chr12:37942400-37942450	GM06990	blood:	n/a
46	chr12:37960160-37960210	CMK	blood:	n/a
47	chr12:37960372-37960422	HL-60	blood:	n/a
48	chr12:37942439-37942489	HAEpiC	amniotic membrane:	n/a
49	chr12:37942400-37942450	HEK293	kidney:	embryo
50	chr12:37960372-37960422	HCM	heart:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ALG10B-10	chr12:37969251-37969555	NONHSAT027668
2	lnc-ALG10B-10	chr12:37970091-37970259	NONHSAT027669
3	lnc-ALG10B-10	chr12:37969385-37969515	NONHSAT027669
4	lnc-ALG10B-10	chr12:37970091-37970186	NONHSAT027668

Variant related genes	Relation type
ENSG00000258368	TF binding region
ENSG00000257899	TF binding region
ENSG00000258368	CpG island
ENSG00000257899	CpG island

Extended variants
information (count: 98 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557418242	chr12:37942485-37942486	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs567019157	chr12:37942835-37942836	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs554794115	chr12:37942845-37942846	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs117689188	chr12:37960202-37960203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528871288	chr12:37960235-37960236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185811109	chr12:37960240-37960241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562724562	chr12:37960255-37960256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531646135	chr12:37960289-37960290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12317934	chr12:37960291-37960292	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs571485716	chr12:37960319-37960320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149617467	chr12:37960323-37960324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546761237	chr12:37960328-37960329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567003109	chr12:37960338-37960339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191999686	chr12:37960339-37960340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555354063	chr12:37960344-37960345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575501617	chr12:37960345-37960346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538169263	chr12:37960367-37960368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548690264	chr12:37960369-37960370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558058449	chr12:37960375-37960376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144269518	chr12:37960376-37960377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540863804	chr12:37960379-37960380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370728774	chr12:37960386-37960387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148750262	chr12:37960410-37960411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376162248	chr12:37960416-37960417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112757624	chr12:37960417-37960418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182103791	chr12:37960442-37960443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570135088	chr12:37960448-37960449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531605535	chr12:37960452-37960453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142367564	chr12:37960467-37960468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538053460	chr12:37960469-37960470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565216618	chr12:37960486-37960487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371233520	chr12:37960498-37960499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187651313	chr12:37960499-37960500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs377326045	chr12:37960500-37960501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs71447695	chr12:37960502-37960503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566814718	chr12:37960521-37960522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs71065466	chr12:37960522-37960523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549961488	chr12:37960541-37960542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs192004763	chr12:37960544-37960545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548940374	chr12:37960575-37960576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568890499	chr12:37960623-37960624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182110302	chr12:37960626-37960627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558021619	chr12:37960634-37960635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs578228088	chr12:37960671-37960672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534084569	chr12:37960677-37960678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs554353963	chr12:37960687-37960688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538967220	chr12:37960709-37960710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542763564	chr12:37960808-37960809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562596320	chr12:37960821-37960822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576089250	chr12:37960860-37960861	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	20858243	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:37960200-37960600	Enhancers	Spleen	Spleen
2	chr12:37960600-37961200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:37982200-37982600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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