Variant report

Variant	nsv947980
Chromosome Location	chr10:50979240-50982868
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:50979540-50979690	HCPEpiC	choroid plexus:	n/a	n/a
2	CTCF	chr10:50979550-50979593	GM13977	blood:	n/a	n/a
3	CTCF	chr10:50979560-50979710	HRPEpiC	eye:	n/a	n/a
4	CTCF	chr10:50980388-50980442	GM20000	blood:	n/a	n/a
5	CTCF	chr10:50979600-50979750	HRE	kidney:	n/a	n/a
6	CTCF	chr10:50981373-50981406	GM10248	blood:	n/a	n/a
7	SPI1	chr10:50980566-50980960	HL-60	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:50979405-50979455	HL-60	blood:	n/a
2	chr10:50979405-50979455	SK-N-SH_RA	brain:	n/a
3	chr10:50979405-50979455	NHDF-neo	bronchial:	n/a
4	chr10:50979405-50979455	NH-A	brain:	n/a
5	chr10:50979405-50979455	SAEC	small airway:	n/a
6	chr10:50979405-50979455	HCM	heart:	n/a
7	chr10:50979405-50979455	PANC-1	pancreas:	n/a
8	chr10:50979405-50979455	IMR90	lung:	fetal
9	chr10:50979405-50979455	AG09309	skin:	n/a
10	chr10:50979405-50979455	T-47D	breast:	n/a
11	chr10:50979405-50979455	Caco-2	colon:	n/a
12	chr10:50979405-50979455	ECC-1	luminal epithelium:	n/a
13	chr10:50979405-50979455	AG04450	lung:	fetal
14	chr10:50979405-50979455	PrEC	prostate:	n/a
15	chr10:50979405-50979455	ovcar-3	ovarian:	n/a
16	chr10:50979405-50979455	GM12878	blood:	n/a
17	chr10:50979405-50979455	GM19239	blood:	n/a
18	chr10:50979405-50979455	AG04449	skin:	fetal
19	chr10:50979405-50979455	HCPEpiC	choroid plexus:	n/a
20	chr10:50979405-50979455	H1-hESC	embryonic stem cell:	embryo
21	chr10:50979405-50979455	HRE	kidney:	n/a
22	chr10:50979405-50979455	LNCaP	prostate:	n/a
23	chr10:50979405-50979455	GM12891	blood:	n/a
24	chr10:50979405-50979455	HIPEpiC	eye:	n/a
25	chr10:50979405-50979455	ProgFib	skin:	n/a
26	chr10:50979405-50979455	HCT-116	colon:	n/a
27	chr10:50979405-50979455	Jurkat	blood:	n/a
28	chr10:50979405-50979455	RPTEC	kidney:	n/a
29	chr10:50979405-50979455	SK-N-MC	brain:	n/a
30	chr10:50979405-50979455	NT2-D1	testis:	n/a
31	chr10:50979405-50979455	A549	lung:	n/a
32	chr10:50979405-50979455	AG09319	gingival:	n/a
33	chr10:50979405-50979455	GM12892	blood:	n/a
34	chr10:50979405-50979455	K562	blood:	n/a
35	chr10:50979405-50979455	SK-N-SH	brain:	n/a
36	chr10:50979405-50979455	HCF	heart:	n/a
37	chr10:50979405-50979455	AG10803	skin:	n/a
38	chr10:50979405-50979455	HRCEpiC	kidney:	n/a
39	chr10:50979405-50979455	CMK	blood:	n/a
40	chr10:50979405-50979455	GM06990	blood:	n/a
41	chr10:50979405-50979455	HAEpiC	amniotic membrane:	n/a
42	chr10:50979405-50979455	HEEpiC	esophagus:	n/a
43	chr10:50979405-50979455	U87	brain:	n/a
44	chr10:50979405-50979455	BE2_C	brain:	n/a
45	chr10:50979405-50979455	HNPCEpiC	eye:	n/a
46	chr10:50979405-50979455	NB4	blood:	n/a
47	chr10:50979405-50979455	HRPEpiC	eye:	n/a
48	chr10:50979405-50979455	NHBE	bronchial:	n/a
49	chr10:50979405-50979455	Hepatocyte	liver:	n/a
50	chr10:50979405-50979455	AoSMC	blood vessel:	n/a

No data

Variant related genes	Relation type
ENSG00000226389	TF binding region
ENSG00000226389	CpG island

Extended variants
information (count: 93 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372815531	chr10:50979241-50979242	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs12778194	chr10:50979243-50979244	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	mRNA abundance
3	rs542165432	chr10:50979269-50979270	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs150326880	chr10:50979275-50979276	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs542238158	chr10:50979353-50979354	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs112603893	chr10:50979394-50979395	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs560513293	chr10:50979446-50979447	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs529598626	chr10:50979449-50979450	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs142366247	chr10:50979540-50979541	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs145934710	chr10:50979587-50979588	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs184724576	chr10:50979649-50979650	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs187972865	chr10:50979677-50979678	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs12354412	chr10:50979705-50979706	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs563876218	chr10:50980611-50980612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531125229	chr10:50980617-50980618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549541422	chr10:50980737-50980738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561202240	chr10:50980799-50980800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546627258	chr10:50980806-50980807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183592065	chr10:50980807-50980808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187990241	chr10:50980827-50980828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113441747	chr10:50980833-50980834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs180854258	chr10:50980842-50980843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186148861	chr10:50980870-50980871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568749753	chr10:50980876-50980877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142591633	chr10:50980885-50980886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554679282	chr10:50981018-50981019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555396942	chr10:50981070-50981071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533853451	chr10:50981093-50981094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568968675	chr10:50981145-50981146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370009787	chr10:50981181-50981182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7072121	chr10:50981186-50981187	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs576860846	chr10:50981209-50981210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545762975	chr10:50981210-50981211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190960381	chr10:50981224-50981225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575945161	chr10:50981225-50981226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111835719	chr10:50981234-50981235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79087300	chr10:50981260-50981261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542052772	chr10:50981289-50981290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181778962	chr10:50981307-50981308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186896507	chr10:50981310-50981311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191421290	chr10:50981324-50981325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs117053208	chr10:50981328-50981329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550493691	chr10:50981383-50981384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377556849	chr10:50981411-50981412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577901859	chr10:50981430-50981431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576088628	chr10:50981494-50981495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182798106	chr10:50981588-50981589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548100700	chr10:50981620-50981621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566622362	chr10:50981628-50981629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187178381	chr10:50981690-50981691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21785460	CNVD
Intellectual disability	21948486	CNVD
Schizophrenia	23813976	CNVD
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Autism	21948486	CNVD
cleft palate	21948486	CNVD
Encephalopathy	21948486	CNVD
Lung cancer	18438408	CNVD
Autism	22543975	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
skeletal anomalies	21948486	CNVD
speech delay	21948486	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
XY gonadal dysgenesis	20685758	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50979200-50979400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
2	chr10:50980600-50980800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr10:50980600-50980800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr10:50980800-50991800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr10:50982600-50983000	Enhancers	Aorta	Aorta

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