Variant report

Variant	nsv947912
Chromosome Location	chr10:46170053-46201030
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:83)
CpG islands
(count:427)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:83 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr10:46186596-46186737	GM12878	blood:	n/a	n/a
2	CTCF	chr10:46174322-46174399	K562	blood:	n/a	n/a
3	CTCF	chr10:46174244-46174343	MCF-7	breast:	n/a	n/a
4	CTCF	chr10:46174260-46174410	HepG2	liver:	n/a	n/a
5	CTCF	chr10:46174241-46174332	HepG2	liver:	n/a	n/a
6	EP300	chr10:46198241-46198562	GM12878	blood:	n/a	n/a
7	FOSL2	chr10:46174387-46174625	HepG2	liver:	n/a	n/a
8	FOSL2	chr10:46199436-46199710	HepG2	liver:	n/a	n/a
9	FOSL2	chr10:46197715-46198571	HepG2	liver:	n/a	n/a
10	FOSL2	chr10:46198869-46199213	HepG2	liver:	n/a	n/a
11	FOXA1	chr10:46193326-46193415	T-47D	breast:	n/a	n/a
12	FOXA1	chr10:46193304-46193498	T-47D	breast:	n/a	chr10:46193451-46193463
13	FOXA1	chr10:46193165-46194006	HepG2	liver:	n/a	chr10:46193451-46193463
14	FOXA1	chr10:46198068-46198612	HepG2	liver:	n/a	n/a
15	FOXA2	chr10:46193134-46193950	A549	lung:	n/a	chr10:46193451-46193463
16	FOXA2	chr10:46193162-46194126	A549	lung:	n/a	chr10:46193451-46193463
17	GATA1	chr10:46182248-46182657	PBDE	blood:	n/a	n/a
18	GATA2	chr10:46197960-46198521	K562	blood:	n/a	n/a
19	GATA2	chr10:46182212-46182606	K562	blood:	n/a	n/a
20	GATA2	chr10:46180723-46181400	K562	blood:	n/a	chr10:46180966-46180977
21	GATA2	chr10:46183234-46183528	K562	blood:	n/a	n/a
22	GATA2	chr10:46180192-46180638	K562	blood:	n/a	n/a
23	GATA2	chr10:46181855-46182167	K562	blood:	n/a	n/a
24	IRF4	chr10:46197874-46198308	GM12878	blood:	n/a	n/a
25	IRF4	chr10:46198263-46198595	GM12878	blood:	n/a	n/a
26	IRF4	chr10:46199303-46199764	GM12878	blood:	n/a	n/a
27	JUND	chr10:46182211-46182401	HepG2	liver:	n/a	n/a
28	JUND	chr10:46198339-46198528	HepG2	liver:	n/a	n/a
29	MYC	chr10:46174352-46174359	MCF-7	breast:	n/a	n/a
30	MYC	chr10:46174255-46174347	MCF-7	breast:	n/a	n/a
31	NR3C1	chr10:46193020-46193866	A549	lung:	n/a	n/a
32	NR3C1	chr10:46193136-46193568	A549	lung:	n/a	n/a
33	NR3C1	chr10:46195325-46195645	A549	lung:	n/a	n/a
34	NR3C1	chr10:46193097-46193587	A549	lung:	n/a	n/a
35	NR3C1	chr10:46193079-46193538	A549	lung:	n/a	n/a
36	NR3C1	chr10:46193064-46193614	A549	lung:	n/a	n/a
37	NR3C1	chr10:46193113-46193627	A549	lung:	n/a	n/a
38	PAX5	chr10:46197660-46198039	GM12878	blood:	n/a	n/a
39	PBX3	chr10:46198388-46198506	GM12878	blood:	n/a	n/a
40	PBX3	chr10:46194902-46195033	GM12878	blood:	n/a	n/a
41	POLR2A	chr10:46198337-46198486	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr10:46197543-46198378	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr10:46197783-46197891	A549	lung:	n/a	n/a
44	POLR2A	chr10:46197612-46198574	GM12878	blood:	n/a	n/a
45	POLR2A	chr10:46195400-46195589	GM12878	blood:	n/a	n/a
46	POLR2A	chr10:46197763-46198423	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr10:46197801-46197959	GM12878	blood:	n/a	n/a
48	POLR2A	chr10:46171727-46171757	HUVEC	blood vessel:	n/a	n/a
49	POLR2A	chr10:46197690-46198075	GM12878	blood:	n/a	n/a
50	POLR2A	chr10:46194859-46195073	Hela-S3	cervix:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:46194725-46194775	NT2-D1	testis:	n/a
2	chr10:46198600-46198650	HRE	kidney:	n/a
3	chr10:46198600-46198650	LNCaP	prostate:	n/a
4	chr10:46171106-46171156	SK-N-MC	brain:	n/a
5	chr10:46198600-46198650	HUVEC	blood vessel:	n/a
6	chr10:46195640-46195690	ECC-1	luminal epithelium:	n/a
7	chr10:46194725-46194775	SKMC	muscle:	n/a
8	chr10:46171106-46171156	AG04449	skin:	fetal
9	chr10:46195673-46195723	LNCaP	prostate:	n/a
10	chr10:46194725-46194775	SK-N-SH	brain:	n/a
11	chr10:46193400-46193450	HCPEpiC	choroid plexus:	n/a
12	chr10:46171106-46171156	NHBE	bronchial:	n/a
13	chr10:46195640-46195690	RPTEC	kidney:	n/a
14	chr10:46196039-46196089	T-47D	breast:	n/a
15	chr10:46198600-46198650	SK-N-SH_RA	brain:	n/a
16	chr10:46198600-46198650	MCF-7	breast:	n/a
17	chr10:46195673-46195723	ECC-1	luminal epithelium:	n/a
18	chr10:46194725-46194775	HL-60	blood:	n/a
19	chr10:46171106-46171156	HEEpiC	esophagus:	n/a
20	chr10:46198600-46198650	HCT-116	colon:	n/a
21	chr10:46198600-46198650	HMEC	breast:	n/a
22	chr10:46196039-46196089	NB4	blood:	n/a
23	chr10:46194725-46194775	HCM	heart:	n/a
24	chr10:46195673-46195723	HEK293	kidney:	embryo
25	chr10:46196039-46196089	AG04450	lung:	fetal
26	chr10:46194725-46194775	AG10803	skin:	n/a
27	chr10:46193400-46193450	ECC-1	luminal epithelium:	n/a
28	chr10:46195640-46195690	AG04450	lung:	fetal
29	chr10:46194725-46194775	PrEC	prostate:	n/a
30	chr10:46195640-46195690	BJ	skin:	n/a
31	chr10:46193400-46193450	CMK	blood:	n/a
32	chr10:46171106-46171156	Jurkat	blood:	n/a
33	chr10:46195640-46195690	GM06990	blood:	n/a
34	chr10:46198600-46198650	HCM	heart:	n/a
35	chr10:46195673-46195723	HCT-116	colon:	n/a
36	chr10:46195640-46195690	HCF	heart:	n/a
37	chr10:46171106-46171156	IMR90	lung:	fetal
38	chr10:46195640-46195690	NHDF-neo	bronchial:	n/a
39	chr10:46195673-46195723	AG04449	skin:	fetal
40	chr10:46195673-46195723	HPAEpiC	pulmonary alveolar:	n/a
41	chr10:46195673-46195723	HIPEpiC	eye:	n/a
42	chr10:46196039-46196089	GM12878	blood:	n/a
43	chr10:46171106-46171156	BJ	skin:	n/a
44	chr10:46196039-46196089	HCPEpiC	choroid plexus:	n/a
45	chr10:46193400-46193450	PANC-1	pancreas:	n/a
46	chr10:46194725-46194775	RPTEC	kidney:	n/a
47	chr10:46196039-46196089	MCF-7	breast:	n/a
48	chr10:46193400-46193450	HAEpiC	amniotic membrane:	n/a
49	chr10:46193400-46193450	HMEC	breast:	n/a
50	chr10:46196039-46196089	HEK293	kidney:	embryo

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:46163208..46166100-chr10:46169984..46171505,2	K562	blood:

No data

Variant related genes	Relation type
ZFAND4	TF binding region
CTGLF10P	TF binding region
ZFAND4	CpG island
CTGLF10P	CpG island

Extended variants
information (count: 131 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113539854	chr10:46170132-46170133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571147343	chr10:46170137-46170138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541480466	chr10:46170138-46170139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539712878	chr10:46170170-46170171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553568386	chr10:46170176-46170177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185177820	chr10:46170262-46170263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553211584	chr10:46170287-46170288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188774187	chr10:46170294-46170295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369643075	chr10:46170300-46170301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545599402	chr10:46170313-46170314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563910892	chr10:46170386-46170387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs372814687	chr10:46170774-46170775	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs567622364	chr10:46170804-46170805	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs563023436	chr10:46170816-46170817	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs181912304	chr10:46170866-46170867	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs189813038	chr10:46171735-46171736	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs180818400	chr10:46171748-46171749	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs571680255	chr10:46171749-46171750	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs539103564	chr10:46171755-46171756	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs149543698	chr10:46174412-46174413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560072921	chr10:46174420-46174421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572122016	chr10:46174445-46174446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372247417	chr10:46174463-46174464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531734830	chr10:46174474-46174475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs371519816	chr10:46174487-46174488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs201775122	chr10:46174491-46174492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562146972	chr10:46174504-46174505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184736664	chr10:46174537-46174538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144894596	chr10:46174544-46174545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs143123883	chr10:46174578-46174579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565652886	chr10:46174581-46174582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532933749	chr10:46174582-46174583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs199542258	chr10:46174603-46174604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116783030	chr10:46174606-46174607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569757749	chr10:46174633-46174634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536792318	chr10:46174639-46174640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555489027	chr10:46174650-46174651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567356058	chr10:46174659-46174660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534880726	chr10:46174667-46174668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs35389736	chr10:46174670-46174671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181452904	chr10:46174683-46174684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs138643555	chr10:46174690-46174691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557780049	chr10:46174707-46174708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369563570	chr10:46174727-46174728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184811451	chr10:46174753-46174754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs200054108	chr10:46174777-46174778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373361618	chr10:46174785-46174786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs61855793	chr10:46199250-46199251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7918417	chr10:46199284-46199285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549474327	chr10:46199321-46199322	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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
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
Non-syndromic sensorineural hearing loss	17431168	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
early-passage human iPS cells	21368824	CNVD
Acute myeloid leukemia	19651601	CNVD
Breast cancer	20409316	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Rett syndrome	21593744	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Schizophrenia	20967226	CNVD
Breast cancer	22522925	CNVD
Cognitive impairment	21505072	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:46169400-46170400	Enhancers	HepG2	liver
2	chr10:46174400-46174800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:46199200-46200200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr10:46199800-46221600	Weak transcription	Primary T cells from cord blood	blood
5	chr10:46200000-46210400	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr10:46200200-46201200	Weak transcription	Primary monocytes fromperipheralblood	blood

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