Variant report

Variant	nsv982771
Chromosome Location	chr10:52429648-52432710
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:52429640-52429790	A549	lung:	n/a	n/a
2	CTCF	chr10:52429626-52429799	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr10:52429693-52429831	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr10:52429689-52429780	GM10266	blood:	n/a	n/a
5	CTCF	chr10:52432554-52432671	GM10266	blood:	n/a	n/a
6	CTCF	chr10:52429714-52429823	GM19240	blood:	n/a	n/a
7	CTCF	chr10:52430274-52430327	LNCaP	prostate:	n/a	n/a
8	CTCF	chr10:52429742-52429756	GM19239	blood:	n/a	n/a
9	CTCF	chr10:52429600-52429750	K562	blood:	n/a	n/a
10	IRF4	chr10:52431982-52432420	GM12878	blood:	n/a	n/a
11	PAX5	chr10:52432003-52432215	GM12878	blood:	n/a	n/a
12	POU2F2	chr10:52431955-52432341	GM12878	blood:	n/a	n/a
13	RAD21	chr10:52429566-52429915	H1-hESC	embryonic stem cell:	n/a	n/a
14	RAD21	chr10:52429633-52429780	HepG2	liver:	n/a	n/a
15	RAD21	chr10:52429620-52429822	H1-hESC	embryonic stem cell:	n/a	n/a
16	RAD21	chr10:52429501-52429944	H1-hESC	embryonic stem cell:	n/a	n/a
17	RAD21	chr10:52429642-52429790	K562	blood:	n/a	n/a
18	RUNX3	chr10:52431906-52432233	GM12878	blood:	n/a	n/a
19	RUNX3	chr10:52431885-52432292	GM12878	blood:	n/a	n/a
20	SPI1	chr10:52432030-52432285	GM12878	blood:	n/a	n/a
21	SPI1	chr10:52431992-52432336	GM12891	blood:	n/a	n/a
22	TCF12	chr10:52432041-52432231	GM12878	blood:	n/a	n/a
23	TCF12	chr10:52432016-52432234	GM12878	blood:	n/a	n/a
24	TEAD4	chr10:52431920-52432229	K562	blood:	n/a	n/a
25	YY1	chr10:52431944-52432241	GM12878	blood:	n/a	chr10:52432084-52432096
26	YY1	chr10:52431942-52432170	GM12891	blood:	n/a	chr10:52432084-52432096
27	YY1	chr10:52431947-52432204	GM12892	blood:	n/a	chr10:52432084-52432096
28	YY1	chr10:52431929-52432171	H1-hESC	embryonic stem cell:	n/a	chr10:52432084-52432096
29	YY1	chr10:52431920-52432205	GM12878	blood:	n/a	chr10:52432084-52432096
30	YY1	chr10:52431959-52432219	H1-hESC	embryonic stem cell:	n/a	chr10:52432084-52432096
31	YY1	chr10:52431943-52432204	K562	blood:	n/a	chr10:52432084-52432096
32	YY1	chr10:52431962-52432171	K562	blood:	n/a	chr10:52432084-52432096
33	YY1	chr10:52431878-52432185	GM12878	blood:	n/a	chr10:52432084-52432096
34	YY1	chr10:52431868-52432188	GM12892	blood:	n/a	chr10:52432084-52432096
35	YY1	chr10:52431979-52432186	GM12891	blood:	n/a	chr10:52432084-52432096

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:52431183-52431233	ovcar-3	ovarian:	n/a
2	chr10:52431183-52431233	HEEpiC	esophagus:	n/a
3	chr10:52431183-52431233	U87	brain:	n/a
4	chr10:52431183-52431233	T-47D	breast:	n/a
5	chr10:52431183-52431233	SK-N-SH	brain:	n/a
6	chr10:52431183-52431233	LNCaP	prostate:	n/a
7	chr10:52431183-52431233	HCM	heart:	n/a
8	chr10:52431183-52431233	GM19239	blood:	n/a
9	chr10:52431183-52431233	AG09319	gingival:	n/a
10	chr10:52431183-52431233	H1-hESC	embryonic stem cell:	embryo
11	chr10:52431183-52431233	NB4	blood:	n/a
12	chr10:52431183-52431233	HRCEpiC	kidney:	n/a
13	chr10:52431183-52431233	NHBE	bronchial:	n/a
14	chr10:52431183-52431233	RPTEC	kidney:	n/a
15	chr10:52431183-52431233	MCF-7	breast:	n/a
16	chr10:52431183-52431233	HAEpiC	amniotic membrane:	n/a
17	chr10:52431183-52431233	SKMC	muscle:	n/a
18	chr10:52431183-52431233	SAEC	small airway:	n/a
19	chr10:52431183-52431233	AG04450	lung:	fetal
20	chr10:52431183-52431233	HPAEpiC	pulmonary alveolar:	n/a
21	chr10:52431183-52431233	HRE	kidney:	n/a
22	chr10:52431183-52431233	AoSMC	blood vessel:	n/a
23	chr10:52431183-52431233	PFSK-1	brain:	n/a
24	chr10:52431183-52431233	AG10803	skin:	n/a
25	chr10:52431183-52431233	HCPEpiC	choroid plexus:	n/a
26	chr10:52431183-52431233	NHDF-neo	bronchial:	n/a
27	chr10:52431183-52431233	AG09309	skin:	n/a
28	chr10:52431183-52431233	MCF10A-Er-Src	breast:	n/a
29	chr10:52431183-52431233	BE2_C	brain:	n/a
30	chr10:52431183-52431233	PrEC	prostate:	n/a
31	chr10:52431183-52431233	Hepatocyte	liver:	n/a
32	chr10:52431183-52431233	GM12891	blood:	n/a
33	chr10:52431183-52431233	SK-N-MC	brain:	n/a
34	chr10:52431183-52431233	ECC-1	luminal epithelium:	n/a
35	chr10:52431183-52431233	PANC-1	pancreas:	n/a
36	chr10:52431183-52431233	GM12878	blood:	n/a
37	chr10:52431183-52431233	HepG2	liver:	n/a
38	chr10:52431183-52431233	HRPEpiC	eye:	n/a
39	chr10:52431183-52431233	ProgFib	skin:	n/a
40	chr10:52431183-52431233	HMEC	breast:	n/a
41	chr10:52431183-52431233	HL-60	blood:	n/a
42	chr10:52431183-52431233	Caco-2	colon:	n/a
43	chr10:52431183-52431233	NT2-D1	testis:	n/a
44	chr10:52431183-52431233	HEK293	kidney:	embryo
45	chr10:52431183-52431233	CMK	blood:	n/a
46	chr10:52431183-52431233	HCF	heart:	n/a
47	chr10:52431183-52431233	Jurkat	blood:	n/a
48	chr10:52431183-52431233	A549	lung:	n/a
49	chr10:52431183-52431233	Hela-S3	cervix:	n/a
50	chr10:52431183-52431233	GM12892	blood:	n/a

No data

Variant related genes	Relation type
NUTM2HP	TF binding region
NUTM2HP	CpG island

Extended variants
information (count: 138 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3001862	chr10:52429744-52429745	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs3001863	chr10:52429752-52429753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377252528	chr10:52429765-52429766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377678341	chr10:52429775-52429776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7914191	chr10:52429797-52429798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541796555	chr10:52429798-52429799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555201001	chr10:52429801-52429802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572119205	chr10:52429802-52429803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541085885	chr10:52429803-52429804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182696893	chr10:52429855-52429856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533156227	chr10:52429896-52429897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185946586	chr10:52429920-52429921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs3001864	chr10:52429949-52429950	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs369405618	chr10:52429971-52429972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192032976	chr10:52429972-52429973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116897304	chr10:52429982-52429983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528574334	chr10:52429996-52429997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs72787005	chr10:52429999-52430000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551415758	chr10:52430003-52430004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113696184	chr10:52430015-52430016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139517287	chr10:52430022-52430023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537240803	chr10:52430076-52430077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557268925	chr10:52430122-52430123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567928052	chr10:52430271-52430272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143515347	chr10:52430276-52430277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183865573	chr10:52430312-52430313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571897237	chr10:52430371-52430372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541172122	chr10:52430382-52430383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557875404	chr10:52430387-52430388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372028466	chr10:52430393-52430394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375412876	chr10:52430395-52430396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188408482	chr10:52430410-52430411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369882181	chr10:52430436-52430437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529883888	chr10:52430437-52430438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529202439	chr10:52430449-52430450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192265650	chr10:52430452-52430453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182879910	chr10:52430463-52430464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187114090	chr10:52430464-52430465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551502140	chr10:52430478-52430479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147178392	chr10:52430570-52430571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531039381	chr10:52430593-52430594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191618590	chr10:52430667-52430668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529782397	chr10:52430678-52430679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184420755	chr10:52430681-52430682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549353505	chr10:52430684-52430685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536952248	chr10:52430692-52430693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369655232	chr10:52430710-52430711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368994032	chr10:52430768-52430769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189354727	chr10:52430785-52430786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565718256	chr10:52430801-52430802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Ollier disease	21235737	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52420000-52434200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:52427600-52430800	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr10:52430800-52431200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr10:52431000-52432600	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr10:52431200-52431400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr10:52431200-52431400	Enhancers	Primary B cells from cord blood	blood
7	chr10:52431200-52431800	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr10:52431200-52432000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr10:52431400-52431800	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr10:52431400-52432200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr10:52431400-52432600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr10:52431600-52432200	Enhancers	Primary B cells from peripheral blood	blood
13	chr10:52431600-52432200	Enhancers	Primary T cells fromperipheralblood	blood
14	chr10:52431600-52432400	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr10:52431600-52432400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr10:52431600-52432400	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr10:52431800-52432200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr10:52431800-52432200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr10:52431800-52432200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr10:52431800-52432400	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr10:52431800-52432400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr10:52432000-52432200	Enhancers	Primary B cells from cord blood	blood
23	chr10:52432200-52433200	Enhancers	Primary neutrophils fromperipheralblood	blood

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