Variant report

Variant	nsv826329
Chromosome Location	chr12:37864282-37936522
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	BCL11A	chr12:37871412-37871560	GM12878	blood:	n/a	n/a
2	CEBPB	chr12:37933064-37933253	HepG2	liver:	n/a	chr12:37933129-37933140
3	CTCF	chr12:37927021-37927067	GM13976	blood:	n/a	n/a
4	CTCF	chr12:37890114-37890182	GM10248	blood:	n/a	n/a
5	CTCF	chr12:37927008-37927057	GM10266	blood:	n/a	n/a
6	CTCF	chr12:37930048-37930110	GM13976	blood:	n/a	n/a
7	CTCF	chr12:37914200-37914218	GM13977	blood:	n/a	n/a
8	CTCF	chr12:37929340-37929445	Fibrobl	skin:	n/a	n/a
9	CTCF	chr12:37894068-37894125	GM10248	blood:	n/a	n/a
10	CTCF	chr12:37928767-37928793	GM10248	blood:	n/a	n/a
11	CTCF	chr12:37890314-37890344	GM13976	blood:	n/a	n/a
12	CTCF	chr12:37927017-37927079	GM20000	blood:	n/a	n/a
13	CTCF	chr12:37928969-37928998	MCF-7	breast:	n/a	n/a
14	EBF1	chr12:37932749-37932931	GM12878	blood:	n/a	n/a
15	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
16	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
17	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
18	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
19	FOSL2	chr12:37871281-37871634	HepG2	liver:	n/a	n/a
20	GABPA	chr12:37871351-37871635	Hela-S3	cervix:	n/a	n/a
21	GATA2	chr12:37912529-37912817	K562	blood:	n/a	n/a
22	GATA2	chr12:37880697-37881050	K562	blood:	n/a	chr12:37880868-37880877
23	GATA3	chr12:37904079-37904520	T-47D	breast:	n/a	chr12:37904154-37904167
24	HEY1	chr12:37935712-37935921	K562	blood:	n/a	n/a
25	JUND	chr12:37871381-37871422	HepG2	liver:	n/a	n/a
26	JUND	chr12:37871370-37871570	HepG2	liver:	n/a	n/a
27	MAFK	chr12:37872947-37873047	HepG2	liver:	n/a	chr12:37872968-37872979 chr12:37872967-37872981 chr12:37872964-37872979 chr12:37872968-37872979 chr12:37872969-37872980 chr12:37872964-37872980 chr12:37872969-37872980
28	MAFK	chr12:37872794-37873111	HepG2	liver:	n/a	chr12:37872968-37872979 chr12:37872967-37872981 chr12:37872964-37872979 chr12:37872968-37872979 chr12:37872969-37872980 chr12:37872964-37872980 chr12:37872969-37872980
29	MAFK	chr12:37887332-37887342	HepG2	liver:	n/a	n/a
30	MAFK	chr12:37898948-37899148	HepG2	liver:	n/a	n/a
31	MYC	chr12:37929593-37929753	H1-hESC	embryonic stem cell:	n/a	n/a
32	MYC	chr12:37914237-37914264	GM12878	blood:	n/a	n/a
33	NR2F2	chr12:37880775-37880948	K562	blood:	n/a	n/a
34	PAX5	chr12:37871341-37871694	GM12878	blood:	n/a	n/a
35	PBX3	chr12:37935716-37935851	GM12878	blood:	n/a	n/a
36	PBX3	chr12:37871428-37871540	GM12878	blood:	n/a	n/a
37	POLR2A	chr12:37936375-37936412	Gliobla	brain:	n/a	n/a
38	POLR2A	chr12:37934778-37934897	MCF-7	breast:	n/a	n/a
39	POLR2A	chr12:37929402-37929478	A549	lung:	n/a	n/a
40	POLR2A	chr12:37876662-37876815	Gliobla	brain:	n/a	n/a
41	POLR2A	chr12:37883318-37883460	Gliobla	brain:	n/a	n/a
42	POLR2A	chr12:37928908-37929040	A549	lung:	n/a	n/a
43	POLR2A	chr12:37928961-37929048	MCF-7	breast:	n/a	n/a
44	POLR2A	chr12:37866779-37866918	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr12:37924179-37924331	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr12:37876624-37876802	A549	lung:	n/a	n/a
47	POLR2A	chr12:37919613-37919674	MCF10A-Er-Src	breast:	n/a	n/a
48	SIN3AK20	chr12:37935749-37935838	HepG2	liver:	n/a	n/a
49	SIN3AK20	chr12:37879538-37879702	HepG2	liver:	n/a	n/a
50	SIN3AK20	chr12:37865034-37865223	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:37936063-37936113	SK-N-SH	brain:	n/a
2	chr12:37936142-37936192	Hepatocyte	liver:	n/a
3	chr12:37936314-37936364	ovcar-3	ovarian:	n/a
4	chr12:37935346-37935396	RPTEC	kidney:	n/a
5	chr12:37936063-37936113	HAEpiC	amniotic membrane:	n/a
6	chr12:37936314-37936364	SK-N-MC	brain:	n/a
7	chr12:37936063-37936113	MCF-7	breast:	n/a
8	chr12:37935346-37935396	PANC-1	pancreas:	n/a
9	chr12:37935346-37935396	ECC-1	luminal epithelium:	n/a
10	chr12:37935346-37935396	Jurkat	blood:	n/a
11	chr12:37936314-37936364	LNCaP	prostate:	n/a
12	chr12:37935346-37935396	HCF	heart:	n/a
13	chr12:37936063-37936113	BJ	skin:	n/a
14	chr12:37935346-37935396	GM06990	blood:	n/a
15	chr12:37935538-37935588	Jurkat	blood:	n/a
16	chr12:37935538-37935588	HEK293	kidney:	embryo
17	chr12:37935538-37935588	IMR90	lung:	fetal
18	chr12:37936142-37936192	AoSMC	blood vessel:	n/a
19	chr12:37936063-37936113	NT2-D1	testis:	n/a
20	chr12:37935538-37935588	GM12891	blood:	n/a
21	chr12:37936142-37936192	HL-60	blood:	n/a
22	chr12:37936063-37936113	AG09319	gingival:	n/a
23	chr12:37936063-37936113	HEEpiC	esophagus:	n/a
24	chr12:37936314-37936364	Hepatocyte	liver:	n/a
25	chr12:37935346-37935396	Hepatocyte	liver:	n/a
26	chr12:37935538-37935588	HCF	heart:	n/a
27	chr12:37936063-37936113	HUVEC	blood vessel:	n/a
28	chr12:37935538-37935588	HRE	kidney:	n/a
29	chr12:37935346-37935396	NHDF-neo	bronchial:	n/a
30	chr12:37936142-37936192	SK-N-MC	brain:	n/a
31	chr12:37936142-37936192	HRPEpiC	eye:	n/a
32	chr12:37936063-37936113	NHDF-neo	bronchial:	n/a
33	chr12:37936314-37936364	HRPEpiC	eye:	n/a
34	chr12:37936314-37936364	CMK	blood:	n/a
35	chr12:37936142-37936192	GM12892	blood:	n/a
36	chr12:37936142-37936192	HMEC	breast:	n/a
37	chr12:37936142-37936192	CMK	blood:	n/a
38	chr12:37936314-37936364	ProgFib	skin:	n/a
39	chr12:37936314-37936364	PANC-1	pancreas:	n/a
40	chr12:37936314-37936364	HMEC	breast:	n/a
41	chr12:37936142-37936192	PANC-1	pancreas:	n/a
42	chr12:37936142-37936192	AG09319	gingival:	n/a
43	chr12:37935538-37935588	BE2_C	brain:	n/a
44	chr12:37935538-37935588	A549	lung:	n/a
45	chr12:37935346-37935396	HPAEpiC	pulmonary alveolar:	n/a
46	chr12:37936063-37936113	HNPCEpiC	eye:	n/a
47	chr12:37936142-37936192	HCPEpiC	choroid plexus:	n/a
48	chr12:37936063-37936113	GM12892	blood:	n/a
49	chr12:37935346-37935396	HIPEpiC	eye:	n/a
50	chr12:37936142-37936192	H1-hESC	embryonic stem cell:	embryo

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

Extended variants
information (count: 542 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:542 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532965872	chr12:37879207-37879208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs4002716	chr12:37879229-37879230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs61921987	chr12:37879233-37879234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540124761	chr12:37879238-37879239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143577881	chr12:37879245-37879246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs202198290	chr12:37879249-37879250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150711778	chr12:37879258-37879259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560407947	chr12:37879267-37879268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs4002715	chr12:37879329-37879330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529035709	chr12:37879337-37879338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4002745	chr12:37879353-37879354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs61921988	chr12:37879366-37879367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76877803	chr12:37879382-37879383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549199097	chr12:37879386-37879387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568788256	chr12:37879398-37879399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs4002744	chr12:37879409-37879410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs4002743	chr12:37879416-37879417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531001566	chr12:37879433-37879434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551115456	chr12:37879434-37879435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570720892	chr12:37879476-37879477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539829092	chr12:37879479-37879480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200137328	chr12:37879495-37879496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546929094	chr12:37879499-37879500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs4123920	chr12:37879504-37879505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201409709	chr12:37879525-37879526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200609204	chr12:37879526-37879527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs201342334	chr12:37879548-37879549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77772504	chr12:37879564-37879565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374012560	chr12:37879569-37879570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535786791	chr12:37879598-37879599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555526798	chr12:37879600-37879601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113587317	chr12:37879601-37879602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs371030893	chr12:37879602-37879603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs111726696	chr12:37879627-37879628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4002742	chr12:37879638-37879639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs4002741	chr12:37879643-37879644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs4002740	chr12:37879666-37879667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs199764301	chr12:37879687-37879688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs200561165	chr12:37879704-37879705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs4002739	chr12:37879719-37879720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537521213	chr12:37879748-37879749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11561452	chr12:37879750-37879751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs201966701	chr12:37879757-37879758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187634691	chr12:37879778-37879779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs4002738	chr12:37879785-37879786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs71447687	chr12:37879822-37879823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550360044	chr12:37879823-37879824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567265296	chr12:37879824-37879825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192824689	chr12:37879851-37879852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs199676567	chr12:37879855-37879856	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Osteosarcoma	21215367	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:37879200-37880200	Enhancers	Dnd41	blood
2	chr12:37891400-37892600	Enhancers	Dnd41	blood
3	chr12:37895600-37896000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:37919800-37920600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:37920600-37921200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:37921200-37921400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:37921400-37922400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:37922400-37922800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:37934000-37935000	ZNF genes & repeats	Spleen	Spleen
10	chr12:37934000-37942000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:37934000-37942400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:37936200-37942000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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