Variant report

Variant	nsv947902
Chromosome Location	chr10:45550636-45554818
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	chr10:45553255-45553397	HepG2	liver:	n/a	chr10:45553343-45553354
2	CEBPB	chr10:45553313-45553378	A549	lung:	n/a	chr10:45553343-45553354
3	CTCF	chr10:45552547-45552552	GM10266	blood:	n/a	n/a
4	ELF1	chr10:45554176-45554438	K562	blood:	n/a	chr10:45554291-45554304
5	FOS	chr10:45554627-45554889	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr10:45553979-45554841	HUVEC	blood vessel:	n/a	chr10:45554185-45554196
7	FOS	chr10:45554083-45554375	MCF10A-Er-Src	breast:	n/a	chr10:45554185-45554196
8	FOS	chr10:45554063-45554943	MCF10A-Er-Src	breast:	n/a	chr10:45554185-45554196
9	FOS	chr10:45554061-45554969	MCF10A-Er-Src	breast:	n/a	chr10:45554185-45554196
10	GATA2	chr10:45554098-45554567	HUVEC	blood vessel:	n/a	n/a
11	MAFK	chr10:45551797-45551856	HepG2	liver:	n/a	n/a
12	MYC	chr10:45554154-45554385	NB4	blood:	n/a	n/a
13	POLR2A	chr10:45554078-45554468	HUVEC	blood vessel:	n/a	n/a
14	STAT3	chr10:45554054-45554986	MCF10A-Er-Src	breast:	n/a	n/a
15	STAT3	chr10:45554084-45554299	MCF10A-Er-Src	breast:	n/a	n/a
16	STAT3	chr10:45554638-45554973	MCF10A-Er-Src	breast:	n/a	n/a
17	STAT3	chr10:45554638-45554988	MCF10A-Er-Src	breast:	n/a	n/a
18	STAT3	chr10:45554060-45554376	MCF10A-Er-Src	breast:	n/a	n/a
19	STAT3	chr10:45551257-45551370	MCF10A-Er-Src	breast:	n/a	n/a
20	STAT3	chr10:45554071-45554376	MCF10A-Er-Src	breast:	n/a	n/a
21	USF2	chr10:45553993-45554012	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:45547265..45549115-chr10:45552966..45555091,2	K562	blood:
2	chr10:45551775..45554609-chr10:45555349..45558284,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF22-5	chr10:45551104-45551716	NONHSAT013064

Variant related genes	Relation type
DUXAP4	TF binding region

Extended variants
information (count: 144 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:144 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185981920	chr10:45550699-45550700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190594805	chr10:45550708-45550709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540040400	chr10:45550717-45550718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558254145	chr10:45550728-45550729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7905526	chr10:45550750-45550751	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs537035882	chr10:45550781-45550782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182772895	chr10:45550804-45550805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560906428	chr10:45550849-45550850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189104301	chr10:45550911-45550912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs207470851	chr10:45551058-45551059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116559035	chr10:45551059-45551060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560017787	chr10:45551091-45551092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145238650	chr10:45551092-45551093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113163764	chr10:45551093-45551094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191801815	chr10:45551117-45551118	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs564007665	chr10:45551137-45551138	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs574262867	chr10:45551146-45551147	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs183037101	chr10:45551196-45551197	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs561767132	chr10:45551209-45551210	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs528892781	chr10:45551246-45551247	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs548064951	chr10:45551339-45551340	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs566399555	chr10:45551344-45551345	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs540005821	chr10:45551363-45551364	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs569317959	chr10:45551377-45551378	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs543260377	chr10:45551387-45551388	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs537592003	chr10:45551409-45551410	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs555588792	chr10:45551429-45551430	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs573931425	chr10:45551451-45551452	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs149175983	chr10:45551457-45551458	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs553613895	chr10:45551483-45551484	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs572041403	chr10:45551484-45551485	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs377592905	chr10:45551510-45551511	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs187569442	chr10:45551521-45551522	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs576049464	chr10:45551535-45551536	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs543467723	chr10:45551547-45551548	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs144985615	chr10:45551603-45551604	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs138814450	chr10:45551648-45551649	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs191896418	chr10:45551665-45551666	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs560074180	chr10:45551670-45551671	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs533695692	chr10:45551679-45551680	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs7095202	chr10:45551685-45551686	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs184251892	chr10:45551752-45551753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187032766	chr10:45551784-45551785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12413425	chr10:45551814-45551815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371239003	chr10:45551846-45551847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534681523	chr10:45551862-45551863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541135803	chr10:45551894-45551895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192180798	chr10:45551898-45551899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs207470852	chr10:45551913-45551914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184975023	chr10:45551974-45551975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45549200-45554200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr10:45551800-45552000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:45552000-45559600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:45552400-45552800	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr10:45552800-45553200	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr10:45553200-45553800	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr10:45553400-45555000	Enhancers	HUVEC	blood vessel
8	chr10:45553400-45555600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr10:45553800-45554400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr10:45553800-45554600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr10:45553800-45554600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr10:45553800-45555000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr10:45553800-45555000	Enhancers	NHEK	skin
14	chr10:45554000-45554800	Enhancers	HMEC	breast
15	chr10:45554000-45555000	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr10:45554000-45555000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr10:45554200-45554600	Enhancers	H1 Cell Line	embryonic stem cell
18	chr10:45554200-45554600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr10:45554200-45555200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr10:45554400-45554600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr10:45554400-45558800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr10:45554600-45557200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr10:45554600-45558800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr10:45554800-45557200	Weak transcription	HMEC	breast

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