Variant report

Variant	nsv983336
Chromosome Location	chr12:63052338-63053746
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	ATF2	chr12:63053091-63053837	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr12:63053015-63053701	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCL11A	chr12:63053189-63053425	H1-hESC	embryonic stem cell:	n/a	n/a
4	BRCA1	chr12:63053116-63053944	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr12:63053150-63053633	H1-hESC	embryonic stem cell:	n/a	n/a
6	CHD2	chr12:63053131-63053695	H1-hESC	embryonic stem cell:	n/a	n/a
7	CREB1	chr12:63053083-63053696	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTBP2	chr12:63052869-63053710	H1-hESC	embryonic stem cell:	n/a	n/a
9	EP300	chr12:63053049-63053621	H1-hESC	embryonic stem cell:	n/a	chr12:63053391-63053405
10	EP300	chr12:63053203-63053638	H1-hESC	embryonic stem cell:	n/a	chr12:63053391-63053405
11	GTF2F1	chr12:63053305-63053672	H1-hESC	embryonic stem cell:	n/a	n/a
12	HDAC2	chr12:63053095-63053704	H1-hESC	embryonic stem cell:	n/a	chr12:63053391-63053405 chr12:63053387-63053401 chr12:63053400-63053414
13	JUN	chr12:63052840-63053515	H1-hESC	embryonic stem cell:	n/a	chr12:63053312-63053321
14	JUND	chr12:63053118-63053719	H1-hESC	embryonic stem cell:	n/a	chr12:63053312-63053321
15	MAX	chr12:63052768-63052919	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr12:63053070-63053684	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr12:63053192-63053534	H1-hESC	embryonic stem cell:	n/a	n/a
18	MYC	chr12:63052722-63052908	HUVEC	blood vessel:	n/a	n/a
19	NANOG	chr12:63053121-63053584	H1-hESC	embryonic stem cell:	n/a	chr12:63053392-63053406
20	NANOG	chr12:63053157-63053554	H1-hESC	embryonic stem cell:	n/a	chr12:63053392-63053406
21	POLR2A	chr12:63053472-63053737	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr12:63052665-63053048	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr12:63053168-63053354	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr12:63053344-63053681	H1-hESC	embryonic stem cell:	n/a	n/a
25	POU5F1	chr12:63053073-63053640	H1-hESC	embryonic stem cell:	n/a	chr12:63053259-63053267
26	SIN3A	chr12:63052665-63053932	H1-hESC	embryonic stem cell:	n/a	n/a
27	SIN3AK20	chr12:63053160-63053529	H1-hESC	embryonic stem cell:	n/a	n/a
28	SP1	chr12:63053099-63053789	H1-hESC	embryonic stem cell:	n/a	n/a
29	SP1	chr12:63053013-63053699	H1-hESC	embryonic stem cell:	n/a	n/a
30	TAF1	chr12:63053323-63053645	H1-hESC	embryonic stem cell:	n/a	n/a
31	TCF12	chr12:63053066-63053692	H1-hESC	embryonic stem cell:	n/a	n/a
32	TCF12	chr12:63053193-63053599	H1-hESC	embryonic stem cell:	n/a	n/a
33	TEAD4	chr12:63053113-63053727	H1-hESC	embryonic stem cell:	n/a	n/a
34	TEAD4	chr12:63053069-63053573	H1-hESC	embryonic stem cell:	n/a	n/a
35	YY1	chr12:63053158-63053626	H1-hESC	embryonic stem cell:	n/a	n/a
36	ZNF143	chr12:63053151-63053649	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
RPL32P26	TF binding region

Extended variants
information (count: 59 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74095848	chr12:63052339-63052340	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs386763619	chr12:63052422-63052423	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141812254	chr12:63052423-63052424	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs74095849	chr12:63052436-63052437	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs535849222	chr12:63052468-63052469	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555699393	chr12:63052477-63052478	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570035008	chr12:63052514-63052515	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150589726	chr12:63052538-63052539	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11174587	chr12:63052559-63052560	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs572591262	chr12:63052588-63052589	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11174588	chr12:63052601-63052602	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs556810013	chr12:63052628-63052629	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544071893	chr12:63052640-63052641	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115803477	chr12:63052652-63052653	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542138929	chr12:63052697-63052698	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185516925	chr12:63052721-63052722	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563647777	chr12:63052820-63052821	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532530900	chr12:63052835-63052836	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545011504	chr12:63052868-63052869	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565177687	chr12:63052927-63052928	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527540618	chr12:63052959-63052960	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547524461	chr12:63052965-63052966	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567032485	chr12:63052985-63052986	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375510088	chr12:63053049-63053050	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375864825	chr12:63053050-63053051	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs137882403	chr12:63053071-63053072	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201807346	chr12:63053072-63053073	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370564631	chr12:63053074-63053075	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529712362	chr12:63053117-63053118	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190278998	chr12:63053133-63053134	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144209418	chr12:63053137-63053138	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538236834	chr12:63053139-63053140	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561706312	chr12:63053172-63053173	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566314213	chr12:63053175-63053176	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534912630	chr12:63053187-63053188	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113372614	chr12:63053214-63053215	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140844093	chr12:63053248-63053249	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138497679	chr12:63053270-63053271	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575011659	chr12:63053280-63053281	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140091372	chr12:63053301-63053302	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11174589	chr12:63053353-63053354	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs143790704	chr12:63053354-63053355	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546175895	chr12:63053400-63053401	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182202563	chr12:63053407-63053408	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs405467	chr12:63053414-63053415	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs388110	chr12:63053418-63053419	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572263446	chr12:63053420-63053421	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540884700	chr12:63053438-63053439	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs422713	chr12:63053440-63053441	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74637461	chr12:63053452-63053453	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD
Man infertility	21397064	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63035200-63069800	Weak transcription	Left Ventricle	heart
2	chr12:63037200-63069600	Weak transcription	Fetal Intestine Large	intestine
3	chr12:63039200-63070000	Weak transcription	Pancreas	Pancrea
4	chr12:63041600-63053600	Weak transcription	Osteobl	bone
5	chr12:63045000-63053400	Weak transcription	Fetal Kidney	kidney
6	chr12:63045800-63054000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:63046000-63054000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:63047200-63054000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:63047400-63053800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr12:63047600-63054000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:63047600-63058000	Weak transcription	A549	lung
12	chr12:63047800-63053400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:63047800-63057200	Weak transcription	Lung	lung
14	chr12:63047800-63062000	Weak transcription	Stomach Mucosa	stomach
15	chr12:63047800-63069600	Weak transcription	Liver	Liver
16	chr12:63048000-63054000	Enhancers	Brain Substantia Nigra	brain
17	chr12:63049000-63054800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:63049000-63069600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr12:63049000-63070000	Weak transcription	Gastric	stomach
20	chr12:63049200-63052400	Weak transcription	Aorta	Aorta
21	chr12:63049200-63052600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:63049200-63053000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr12:63049200-63054600	Enhancers	H9 Cell Line	embryonic stem cell
24	chr12:63049200-63055400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:63049200-63070000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:63049400-63057000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:63049600-63053000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr12:63049600-63055800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:63049800-63052400	Weak transcription	Placenta	Placenta
30	chr12:63049800-63055000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:63049800-63055200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:63050000-63052800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr12:63050000-63070200	Weak transcription	Ovary	ovary
34	chr12:63050200-63052800	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr12:63050200-63053600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr12:63050200-63054800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr12:63050600-63054000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr12:63050800-63066600	Weak transcription	Fetal Stomach	stomach
39	chr12:63051000-63052400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr12:63051000-63052400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr12:63051000-63052600	Enhancers	H1 Cell Line	embryonic stem cell
42	chr12:63051000-63052600	Weak transcription	Brain Germinal Matrix	brain
43	chr12:63051000-63053200	Weak transcription	Fetal Brain Female	brain
44	chr12:63051200-63052400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr12:63051200-63052600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:63051200-63052600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr12:63051200-63069600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr12:63051400-63052400	Weak transcription	Brain Hippocampus Middle	brain
49	chr12:63051400-63052400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr12:63051400-63052600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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