Variant report

Variant	nsv947610
Chromosome Location	chr10:45752231-45769447
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:77)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:77 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr10:45756859-45758017	K562	blood:	n/a	n/a
2	BACH1	chr10:45757013-45757033	K562	blood:	n/a	n/a
3	BHLHE40	chr10:45753724-45753795	K562	blood:	n/a	n/a
4	BHLHE40	chr10:45757490-45757685	K562	blood:	n/a	n/a
5	CCNT2	chr10:45757535-45757750	K562	blood:	n/a	n/a
6	CEBPB	chr10:45753203-45753264	K562	blood:	n/a	chr10:45753232-45753245
7	CEBPB	chr10:45757418-45757772	K562	blood:	n/a	n/a
8	CEBPB	chr10:45757528-45757794	K562	blood:	n/a	n/a
9	CEBPD	chr10:45757479-45757845	K562	blood:	n/a	n/a
10	CEBPD	chr10:45757406-45757830	K562	blood:	n/a	n/a
11	CTCF	chr10:45761400-45761444	ProgFib	skin:	n/a	n/a
12	CTCF	chr10:45757697-45757735	K562	blood:	n/a	n/a
13	CTCF	chr10:45761757-45761774	K562	blood:	n/a	n/a
14	CTCF	chr10:45761620-45761770	GM12872	blood:	n/a	n/a
15	CTCF	chr10:45761660-45761810	GM12873	blood:	n/a	n/a
16	CTCF	chr10:45761640-45761790	HEK293	kidney:	n/a	n/a
17	CUX1	chr10:45756721-45756917	K562	blood:	n/a	n/a
18	CUX1	chr10:45757197-45757964	K562	blood:	n/a	n/a
19	EP300	chr10:45756103-45756327	GM12878	blood:	n/a	n/a
20	EP300	chr10:45756796-45757101	K562	blood:	n/a	n/a
21	EP300	chr10:45757422-45757877	K562	blood:	n/a	n/a
22	EP300	chr10:45768483-45768589	K562	blood:	n/a	n/a
23	FOSL2	chr10:45756152-45756327	HepG2	liver:	n/a	n/a
24	FOXA1	chr10:45756081-45756346	HepG2	liver:	n/a	n/a
25	FOXA2	chr10:45761391-45761852	A549	lung:	n/a	n/a
26	GATA1	chr10:45757226-45758029	PBDE	blood:	n/a	n/a
27	GATA2	chr10:45756032-45756474	K562	blood:	n/a	n/a
28	GATA2	chr10:45757339-45757829	K562	blood:	n/a	n/a
29	GATA3	chr10:45766524-45766843	MCF-7	breast:	n/a	n/a
30	IRF1	chr10:45756813-45757096	K562	blood:	n/a	n/a
31	IRF1	chr10:45757937-45758137	K562	blood:	n/a	n/a
32	IRF1	chr10:45757092-45757732	K562	blood:	n/a	n/a
33	IRF1	chr10:45753276-45753367	K562	blood:	n/a	n/a
34	JUND	chr10:45757330-45757725	K562	blood:	n/a	n/a
35	JUND	chr10:45756129-45756298	HepG2	liver:	n/a	n/a
36	JUND	chr10:45756174-45756292	HepG2	liver:	n/a	n/a
37	KAP1	chr10:45768511-45769452	K562	blood:	n/a	n/a
38	MAFF	chr10:45756748-45757314	K562	blood:	n/a	n/a
39	MAFK	chr10:45756738-45757296	K562	blood:	n/a	n/a
40	MAX	chr10:45755996-45756215	K562	blood:	n/a	n/a
41	MAZ	chr10:45757471-45757796	K562	blood:	n/a	n/a
42	MXI1	chr10:45757545-45757701	K562	blood:	n/a	n/a
43	NR2F2	chr10:45757276-45757885	K562	blood:	n/a	n/a
44	NR2F2	chr10:45755950-45756522	K562	blood:	n/a	n/a
45	NR2F2	chr10:45755908-45756627	K562	blood:	n/a	n/a
46	NR2F2	chr10:45757425-45757791	K562	blood:	n/a	n/a
47	POLR2A	chr10:45752219-45752283	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr10:45757479-45757736	K562	blood:	n/a	n/a
49	POLR2A	chr10:45759464-45759498	Gliobla	brain:	n/a	n/a
50	POLR2A	chr10:45757482-45757684	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:45501761..45504279-chr10:45755487..45758024,2	K562	blood:

No data

Variant related genes	Relation type
OR6D1P	TF binding region

Extended variants
information (count: 479 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:479 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570039215	chr10:45752270-45752271	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs540726038	chr10:45752272-45752273	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs142472485	chr10:45752275-45752276	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs115308129	chr10:45752288-45752289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536614740	chr10:45752293-45752294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556040113	chr10:45752294-45752295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146327889	chr10:45752311-45752312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372361880	chr10:45752317-45752318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566300334	chr10:45752323-45752324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541721348	chr10:45752448-45752449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375258956	chr10:45752450-45752451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140277527	chr10:45752454-45752455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78647915	chr10:45752472-45752473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538403399	chr10:45752477-45752478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10617686	chr10:45752478-45752479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139008292	chr10:45752505-45752506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187876892	chr10:45752533-45752534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563746075	chr10:45752559-45752560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530953833	chr10:45752569-45752570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549146969	chr10:45752610-45752611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374276659	chr10:45752617-45752618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554569563	chr10:45752658-45752659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535432324	chr10:45752659-45752660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529221133	chr10:45752699-45752700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376251129	chr10:45752703-45752704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547281131	chr10:45752736-45752737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559251993	chr10:45752749-45752750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565545816	chr10:45752757-45752758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539199803	chr10:45752777-45752778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564637758	chr10:45752790-45752791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569615775	chr10:45752791-45752792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371411907	chr10:45752813-45752814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140453845	chr10:45752836-45752837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150472003	chr10:45752855-45752856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138352498	chr10:45752960-45752961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555181525	chr10:45752971-45752972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191534155	chr10:45753000-45753001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78843671	chr10:45753024-45753025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372845078	chr10:45753045-45753046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs578230845	chr10:45753053-45753054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545584911	chr10:45753082-45753083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs77506893	chr10:45753115-45753116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557515739	chr10:45753134-45753135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575059148	chr10:45753149-45753150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575680279	chr10:45753157-45753158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149612025	chr10:45753203-45753204	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs368551657	chr10:45753212-45753213	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs77249162	chr10:45753266-45753267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189034476	chr10:45753295-45753296	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs540928220	chr10:45753307-45753308	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Lung cancer	18438408	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
Mental retardation	21062444	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	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
Breast cancer	21785460	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Glioblastoma multiforme	21138945	CNVD
Autism	19287141	CNVD
Intellectual disability	21948486	CNVD
Glioblastoma multiforme	21525872	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45751600-45752400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr10:45752200-45756200	Weak transcription	K562	blood
3	chr10:45752800-45761800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr10:45754000-45754600	Enhancers	Spleen	Spleen
5	chr10:45756200-45756400	Enhancers	K562	blood
6	chr10:45756400-45757400	Flanking Active TSS	K562	blood
7	chr10:45756600-45757000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr10:45756800-45758000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr10:45757400-45758600	Enhancers	K562	blood
10	chr10:45758600-45761400	Weak transcription	K562	blood
11	chr10:45759000-45760200	ZNF genes & repeats	Aorta	Aorta
12	chr10:45759200-45759400	Enhancers	Gastric	stomach
13	chr10:45759400-45761400	Weak transcription	Gastric	stomach
14	chr10:45761400-45761600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr10:45761400-45761600	Active TSS	Gastric	stomach
16	chr10:45761400-45761800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr10:45761400-45761800	Enhancers	Pancreas	Pancrea
18	chr10:45761400-45762000	Enhancers	K562	blood
19	chr10:45761600-45761800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
20	chr10:45761800-45762000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr10:45761800-45762000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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