Variant report

Variant	nsv976596
Chromosome Location	chr12:33138757-33140970
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	chr12:33140531-33140731	K562	blood:	n/a	n/a
2	JUND	chr12:33138830-33139012	HepG2	liver:	n/a	chr12:33138859-33138868
3	MAFF	chr12:33139554-33139874	HepG2	liver:	n/a	chr12:33139709-33139727
4	MAFF	chr12:33139647-33139771	K562	blood:	n/a	chr12:33139709-33139727
5	MAFK	chr12:33139549-33139866	HepG2	liver:	n/a	chr12:33139711-33139727 chr12:33139711-33139722 chr12:33139711-33139722 chr12:33139711-33139726
6	MAFK	chr12:33139706-33139735	K562	blood:	n/a	chr12:33139711-33139727 chr12:33139711-33139722 chr12:33139711-33139722 chr12:33139711-33139726
7	MAFK	chr12:33139561-33139866	IMR90	lung:	n/a	chr12:33139711-33139727 chr12:33139711-33139722 chr12:33139711-33139722 chr12:33139711-33139726
8	MAFK	chr12:33139551-33139883	HepG2	liver:	n/a	chr12:33139711-33139727 chr12:33139711-33139722 chr12:33139711-33139722 chr12:33139711-33139726

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:33139395-33139445	NT2-D1	testis:	n/a
2	chr12:33139435-33139485	GM06990	blood:	n/a
3	chr12:33139395-33139445	HAEpiC	amniotic membrane:	n/a
4	chr12:33139395-33139445	SK-N-MC	brain:	n/a
5	chr12:33139435-33139485	AoSMC	blood vessel:	n/a
6	chr12:33139395-33139445	HMEC	breast:	n/a
7	chr12:33139395-33139445	AG04450	lung:	fetal
8	chr12:33139395-33139445	T-47D	breast:	n/a
9	chr12:33139395-33139445	MCF-7	breast:	n/a
10	chr12:33139435-33139485	HAEpiC	amniotic membrane:	n/a
11	chr12:33139395-33139445	ECC-1	luminal epithelium:	n/a
12	chr12:33139435-33139485	LNCaP	prostate:	n/a
13	chr12:33139435-33139485	CMK	blood:	n/a
14	chr12:33139395-33139445	PFSK-1	brain:	n/a
15	chr12:33139435-33139485	HPAEpiC	pulmonary alveolar:	n/a
16	chr12:33139435-33139485	SK-N-SH_RA	brain:	n/a
17	chr12:33139435-33139485	PFSK-1	brain:	n/a
18	chr12:33139395-33139445	HRPEpiC	eye:	n/a
19	chr12:33139395-33139445	HL-60	blood:	n/a
20	chr12:33139395-33139445	HCPEpiC	choroid plexus:	n/a
21	chr12:33139435-33139485	H1-hESC	embryonic stem cell:	embryo
22	chr12:33139395-33139445	HIPEpiC	eye:	n/a
23	chr12:33139395-33139445	HRCEpiC	kidney:	n/a
24	chr12:33139435-33139485	HEK293	kidney:	embryo
25	chr12:33139435-33139485	Jurkat	blood:	n/a
26	chr12:33139395-33139445	HEEpiC	esophagus:	n/a
27	chr12:33139395-33139445	CMK	blood:	n/a
28	chr12:33139395-33139445	SK-N-SH_RA	brain:	n/a
29	chr12:33139435-33139485	MCF-7	breast:	n/a
30	chr12:33139395-33139445	K562	blood:	n/a
31	chr12:33139395-33139445	HUVEC	blood vessel:	n/a
32	chr12:33139435-33139485	A549	lung:	n/a
33	chr12:33139435-33139485	ECC-1	luminal epithelium:	n/a
34	chr12:33139395-33139445	NB4	blood:	n/a
35	chr12:33139435-33139485	GM12891	blood:	n/a
36	chr12:33139435-33139485	AG09319	gingival:	n/a
37	chr12:33139395-33139445	AoSMC	blood vessel:	n/a
38	chr12:33139435-33139485	SK-N-SH	brain:	n/a
39	chr12:33139435-33139485	GM19239	blood:	n/a
40	chr12:33139435-33139485	HCT-116	colon:	n/a
41	chr12:33139395-33139445	Jurkat	blood:	n/a
42	chr12:33139395-33139445	GM12878	blood:	n/a
43	chr12:33139395-33139445	PrEC	prostate:	n/a
44	chr12:33139435-33139485	BE2_C	brain:	n/a
45	chr12:33139395-33139445	HNPCEpiC	eye:	n/a
46	chr12:33139435-33139485	HCM	heart:	n/a
47	chr12:33139435-33139485	Caco-2	colon:	n/a
48	chr12:33139435-33139485	NB4	blood:	n/a
49	chr12:33139395-33139445	GM19239	blood:	n/a
50	chr12:33139395-33139445	HepG2	liver:	n/a

Variant related genes	Relation type
ENSG00000257435	TF binding region
ENSG00000257316	TF binding region
ENSG00000257435	CpG island
ENSG00000257316	CpG island

Extended variants
information (count: 124 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12231850	chr12:33138770-33138771	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555035849	chr12:33138807-33138808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116556827	chr12:33138828-33138829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73307630	chr12:33138830-33138831	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs558032559	chr12:33138880-33138881	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs578130251	chr12:33138926-33138927	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs540879752	chr12:33138928-33138929	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs560812504	chr12:33138968-33138969	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs187406605	chr12:33139013-33139014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs58488828	chr12:33139015-33139016	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs12367772	chr12:33139017-33139018	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs7305797	chr12:33139027-33139028	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs531685969	chr12:33139029-33139030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191521301	chr12:33139047-33139048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144719613	chr12:33139066-33139067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533155867	chr12:33139068-33139069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546488316	chr12:33139086-33139087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566470180	chr12:33139092-33139093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570332602	chr12:33139107-33139108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528843951	chr12:33139112-33139113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547849617	chr12:33139140-33139141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568850714	chr12:33139178-33139179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537501965	chr12:33139181-33139182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557835896	chr12:33139192-33139193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147832074	chr12:33139197-33139198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182906148	chr12:33139229-33139230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554487789	chr12:33139230-33139231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs199886162	chr12:33139245-33139246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs7306057	chr12:33139246-33139247	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs556251937	chr12:33139252-33139253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12578228	chr12:33139261-33139262	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs545127294	chr12:33139262-33139263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565425447	chr12:33139286-33139287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188017858	chr12:33139329-33139330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540072659	chr12:33139333-33139334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs199948059	chr12:33139342-33139343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559937239	chr12:33139343-33139344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192291644	chr12:33139395-33139396	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
39	rs7306202	chr12:33139408-33139409	Weak transcription Enhancers	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs568713163	chr12:33139410-33139411	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
41	rs531380901	chr12:33139419-33139420	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
42	rs551176330	chr12:33139428-33139429	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
43	rs375075413	chr12:33139435-33139436	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
44	rs534366494	chr12:33139461-33139462	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
45	rs554381242	chr12:33139462-33139463	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
46	rs567875972	chr12:33139475-33139476	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
47	rs536908359	chr12:33139496-33139497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369240291	chr12:33139534-33139535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141319674	chr12:33139535-33139536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545425648	chr12:33139539-33139540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	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
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
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21272361	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33136800-33138800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:33137000-33141600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr12:33137000-33142200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:33137200-33141400	Weak transcription	Placenta	Placenta
5	chr12:33137200-33141600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr12:33140200-33140400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:33140400-33140600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:33140400-33140600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:33140400-33144400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:33140600-33140800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:33140600-33140800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr12:33140600-33142000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:33140600-33164800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:33140800-33142000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr12:33140800-33142200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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