Variant report

Variant	nsv8956
Chromosome Location	chr12:37914175-37942883
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	chr12:37933064-37933253	HepG2	liver:	n/a	chr12:37933129-37933140
2	CTCF	chr12:37929340-37929445	Fibrobl	skin:	n/a	n/a
3	CTCF	chr12:37930048-37930110	GM13976	blood:	n/a	n/a
4	CTCF	chr12:37928969-37928998	MCF-7	breast:	n/a	n/a
5	CTCF	chr12:37928767-37928793	GM10248	blood:	n/a	n/a
6	CTCF	chr12:37927008-37927057	GM10266	blood:	n/a	n/a
7	CTCF	chr12:37927017-37927079	GM20000	blood:	n/a	n/a
8	CTCF	chr12:37927021-37927067	GM13976	blood:	n/a	n/a
9	CTCF	chr12:37914200-37914218	GM13977	blood:	n/a	n/a
10	EBF1	chr12:37932749-37932931	GM12878	blood:	n/a	n/a
11	FOS	chr12:37927406-37927688	MCF10A-Er-Src	breast:	n/a	chr12:37927535-37927545 chr12:37927534-37927546 chr12:37927536-37927544 chr12:37927536-37927543 chr12:37927537-37927548
12	FOS	chr12:37927392-37927696	MCF10A-Er-Src	breast:	n/a	chr12:37927535-37927545 chr12:37927534-37927546 chr12:37927536-37927544 chr12:37927536-37927543 chr12:37927537-37927548
13	FOS	chr12:37927418-37927597	MCF10A-Er-Src	breast:	n/a	chr12:37927535-37927545 chr12:37927534-37927546 chr12:37927536-37927544 chr12:37927536-37927543 chr12:37927537-37927548
14	FOS	chr12:37927430-37927622	MCF10A-Er-Src	breast:	n/a	chr12:37927535-37927545 chr12:37927534-37927546 chr12:37927536-37927544 chr12:37927536-37927543 chr12:37927537-37927548
15	HEY1	chr12:37935712-37935921	K562	blood:	n/a	n/a
16	JUND	chr12:37941520-37941704	K562	blood:	n/a	n/a
17	MAX	chr12:37940951-37941244	K562	blood:	n/a	n/a
18	MYC	chr12:37936738-37936795	H1-hESC	embryonic stem cell:	n/a	n/a
19	MYC	chr12:37929593-37929753	H1-hESC	embryonic stem cell:	n/a	n/a
20	MYC	chr12:37914237-37914264	GM12878	blood:	n/a	n/a
21	NRF1	chr12:37941371-37941941	SK-N-SH	brain:	n/a	chr12:37941613-37941624
22	NRF1	chr12:37941460-37941823	K562	blood:	n/a	chr12:37941613-37941624
23	NRF1	chr12:37937272-37937817	SK-N-SH	brain:	n/a	n/a
24	PBX3	chr12:37935716-37935851	GM12878	blood:	n/a	n/a
25	POLR2A	chr12:37942824-37942851	GM12878	blood:	n/a	n/a
26	POLR2A	chr12:37928908-37929040	A549	lung:	n/a	n/a
27	POLR2A	chr12:37928961-37929048	MCF-7	breast:	n/a	n/a
28	POLR2A	chr12:37924179-37924331	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr12:37934778-37934897	MCF-7	breast:	n/a	n/a
30	POLR2A	chr12:37919613-37919674	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr12:37942822-37942823	GM12878	blood:	n/a	n/a
32	POLR2A	chr12:37929402-37929478	A549	lung:	n/a	n/a
33	POLR2A	chr12:37936375-37936412	Gliobla	brain:	n/a	n/a
34	POLR2A	chr12:37941690-37941778	K562	blood:	n/a	n/a
35	RAD21	chr12:37937355-37937619	SK-N-SH_RA	brain:	n/a	n/a
36	SIN3AK20	chr12:37935749-37935838	HepG2	liver:	n/a	n/a
37	STAT3	chr12:37927407-37927694	MCF10A-Er-Src	breast:	n/a	n/a
38	STAT3	chr12:37927411-37927593	MCF10A-Er-Src	breast:	n/a	n/a
39	STAT3	chr12:37927499-37927595	MCF10A-Er-Src	breast:	n/a	n/a
40	STAT3	chr12:37927438-37927582	MCF10A-Er-Src	breast:	n/a	n/a
41	TCF3	chr12:37935579-37935903	GM12878	blood:	n/a	n/a
42	YY1	chr12:37941403-37941658	SK-N-SH_RA	brain:	n/a	n/a
43	ZBTB33	chr12:37935650-37935938	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:37942400-37942450	HRPEpiC	eye:	n/a
2	chr12:37935538-37935588	AoSMC	blood vessel:	n/a
3	chr12:37937608-37937658	LNCaP	prostate:	n/a
4	chr12:37936142-37936192	AG09319	gingival:	n/a
5	chr12:37935346-37935396	AG09309	skin:	n/a
6	chr12:37941570-37941620	K562	blood:	n/a
7	chr12:37942267-37942317	PANC-1	pancreas:	n/a
8	chr12:37939694-37939744	Hepatocyte	liver:	n/a
9	chr12:37941348-37941398	SAEC	small airway:	n/a
10	chr12:37936314-37936364	HCPEpiC	choroid plexus:	n/a
11	chr12:37937769-37937819	SKMC	muscle:	n/a
12	chr12:37936142-37936192	SK-N-SH	brain:	n/a
13	chr12:37940985-37941035	IMR90	lung:	fetal
14	chr12:37937608-37937658	NHDF-neo	bronchial:	n/a
15	chr12:37942439-37942489	SK-N-SH	brain:	n/a
16	chr12:37937769-37937819	NHDF-neo	bronchial:	n/a
17	chr12:37935538-37935588	SK-N-MC	brain:	n/a
18	chr12:37942400-37942450	NHBE	bronchial:	n/a
19	chr12:37942400-37942450	GM19239	blood:	n/a
20	chr12:37937769-37937819	T-47D	breast:	n/a
21	chr12:37942439-37942489	SKMC	muscle:	n/a
22	chr12:37942400-37942450	ECC-1	luminal epithelium:	n/a
23	chr12:37936063-37936113	IMR90	lung:	fetal
24	chr12:37941348-37941398	H1-hESC	embryonic stem cell:	embryo
25	chr12:37942267-37942317	AG09309	skin:	n/a
26	chr12:37941570-37941620	AG10803	skin:	n/a
27	chr12:37941348-37941398	U87	brain:	n/a
28	chr12:37935346-37935396	PrEC	prostate:	n/a
29	chr12:37937769-37937819	SAEC	small airway:	n/a
30	chr12:37935346-37935396	AG04449	skin:	fetal
31	chr12:37939694-37939744	CMK	blood:	n/a
32	chr12:37939694-37939744	IMR90	lung:	fetal
33	chr12:37936314-37936364	AG04450	lung:	fetal
34	chr12:37941570-37941620	SAEC	small airway:	n/a
35	chr12:37941570-37941620	SKMC	muscle:	n/a
36	chr12:37940985-37941035	HRCEpiC	kidney:	n/a
37	chr12:37936142-37936192	LNCaP	prostate:	n/a
38	chr12:37941348-37941398	NB4	blood:	n/a
39	chr12:37937769-37937819	HEEpiC	esophagus:	n/a
40	chr12:37942400-37942450	SKMC	muscle:	n/a
41	chr12:37936142-37936192	BE2_C	brain:	n/a
42	chr12:37940985-37941035	SKMC	muscle:	n/a
43	chr12:37935346-37935396	ECC-1	luminal epithelium:	n/a
44	chr12:37942439-37942489	LNCaP	prostate:	n/a
45	chr12:37935538-37935588	HepG2	liver:	n/a
46	chr12:37940985-37941035	ECC-1	luminal epithelium:	n/a
47	chr12:37937769-37937819	ovcar-3	ovarian:	n/a
48	chr12:37941348-37941398	SK-N-MC	brain:	n/a
49	chr12:37937608-37937658	NB4	blood:	n/a
50	chr12:37935538-37935588	IMR90	lung:	fetal

Variant related genes	Relation type
ENSG00000257933	TF binding region
ENSG00000257794	TF binding region
ENSG00000257899	TF binding region
ENSG00000257933	CpG island
ENSG00000257794	CpG island
ENSG00000257899	CpG island

Extended variants
information (count: 744 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:744 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113528905	chr12:37919876-37919877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542430385	chr12:37919884-37919885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147834382	chr12:37919885-37919886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142149262	chr12:37919886-37919887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115095138	chr12:37919928-37919929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544240082	chr12:37919939-37919940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs202217333	chr12:37919944-37919945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200403798	chr12:37919956-37919957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201166973	chr12:37919958-37919959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182719772	chr12:37919970-37919971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533502721	chr12:37919984-37919985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139161892	chr12:37919992-37919993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547253825	chr12:37919995-37919996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149901044	chr12:37920015-37920016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187449607	chr12:37920031-37920032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376488339	chr12:37920041-37920042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200184910	chr12:37920053-37920054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs74076055	chr12:37920067-37920068	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs200263546	chr12:37920164-37920165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568930178	chr12:37920199-37920200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537935606	chr12:37920216-37920217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141956487	chr12:37920243-37920244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372778938	chr12:37920248-37920249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370520315	chr12:37920272-37920273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374240918	chr12:37920300-37920301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368242622	chr12:37920323-37920324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571199424	chr12:37920335-37920336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375732820	chr12:37920341-37920342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144204732	chr12:37920386-37920387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192360843	chr12:37920396-37920397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs4002543	chr12:37920406-37920407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555950766	chr12:37920419-37920420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576199966	chr12:37920477-37920478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184811555	chr12:37920511-37920512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149222484	chr12:37920523-37920524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187521941	chr12:37920524-37920525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs202174437	chr12:37920526-37920527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192804300	chr12:37920542-37920543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs143325616	chr12:37920545-37920546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534523466	chr12:37920562-37920563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs80335008	chr12:37920594-37920595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568031302	chr12:37920607-37920608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371376964	chr12:37920619-37920620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529620758	chr12:37920647-37920648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549737137	chr12:37920650-37920651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569469955	chr12:37920658-37920659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184702689	chr12:37920685-37920686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74688314	chr12:37920702-37920703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571269978	chr12:37920728-37920729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533754240	chr12:37920729-37920730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:37919800-37920600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:37920600-37921200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:37921200-37921400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:37921400-37922400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:37922400-37922800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:37934000-37935000	ZNF genes & repeats	Spleen	Spleen
7	chr12:37934000-37942000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:37934000-37942400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:37936200-37942000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:37941200-37942000	Active TSS	K562	blood
11	chr12:37941400-37941800	ZNF genes & repeats	Placenta	Placenta

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