Variant report

Variant	nsv820051
Chromosome Location	chr10:46169593-46200852
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	chr10:46174241-46174332	HepG2	liver:	n/a	n/a
3	CTCF	chr10:46174322-46174399	K562	blood:	n/a	n/a
4	CTCF	chr10:46174244-46174343	MCF-7	breast:	n/a	n/a
5	CTCF	chr10:46174260-46174410	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	chr10:46198869-46199213	HepG2	liver:	n/a	n/a
9	FOSL2	chr10:46197715-46198571	HepG2	liver:	n/a	n/a
10	FOSL2	chr10:46199436-46199710	HepG2	liver:	n/a	n/a
11	FOXA1	chr10:46193326-46193415	T-47D	breast:	n/a	n/a
12	FOXA1	chr10:46198068-46198612	HepG2	liver:	n/a	n/a
13	FOXA1	chr10:46193304-46193498	T-47D	breast:	n/a	chr10:46193451-46193463
14	FOXA1	chr10:46193165-46194006	HepG2	liver:	n/a	chr10:46193451-46193463
15	FOXA2	chr10:46193162-46194126	A549	lung:	n/a	chr10:46193451-46193463
16	FOXA2	chr10:46193134-46193950	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	chr10:46183234-46183528	K562	blood:	n/a	n/a
20	GATA2	chr10:46180192-46180638	K562	blood:	n/a	n/a
21	GATA2	chr10:46182212-46182606	K562	blood:	n/a	n/a
22	GATA2	chr10:46181855-46182167	K562	blood:	n/a	n/a
23	GATA2	chr10:46180723-46181400	K562	blood:	n/a	chr10:46180966-46180977
24	IRF4	chr10:46198263-46198595	GM12878	blood:	n/a	n/a
25	IRF4	chr10:46197874-46198308	GM12878	blood:	n/a	n/a
26	IRF4	chr10:46199303-46199764	GM12878	blood:	n/a	n/a
27	JUND	chr10:46198339-46198528	HepG2	liver:	n/a	n/a
28	JUND	chr10:46182211-46182401	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	chr10:46193064-46193614	A549	lung:	n/a	n/a
32	NR3C1	chr10:46193136-46193568	A549	lung:	n/a	n/a
33	NR3C1	chr10:46193020-46193866	A549	lung:	n/a	n/a
34	NR3C1	chr10:46193097-46193587	A549	lung:	n/a	n/a
35	NR3C1	chr10:46193113-46193627	A549	lung:	n/a	n/a
36	NR3C1	chr10:46193079-46193538	A549	lung:	n/a	n/a
37	NR3C1	chr10:46195325-46195645	A549	lung:	n/a	n/a
38	PAX5	chr10:46197660-46198039	GM12878	blood:	n/a	n/a
39	PBX3	chr10:46194902-46195033	GM12878	blood:	n/a	n/a
40	PBX3	chr10:46198388-46198506	GM12878	blood:	n/a	n/a
41	POLR2A	chr10:46198337-46198486	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr10:46197801-46197959	GM12878	blood:	n/a	n/a
43	POLR2A	chr10:46197612-46198574	GM12878	blood:	n/a	n/a
44	POLR2A	chr10:46199395-46199664	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr10:46171727-46171757	HUVEC	blood vessel:	n/a	n/a
46	POLR2A	chr10:46197543-46198378	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr10:46194859-46195073	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr10:46197690-46198075	GM12878	blood:	n/a	n/a
49	POLR2A	chr10:46195400-46195589	GM12878	blood:	n/a	n/a
50	POLR2A	chr10:46197783-46197891	A549	lung:	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	HIPEpiC	eye:	n/a
2	chr10:46193400-46193450	BJ	skin:	n/a
3	chr10:46196039-46196089	Jurkat	blood:	n/a
4	chr10:46195673-46195723	HCM	heart:	n/a
5	chr10:46194725-46194775	ProgFib	skin:	n/a
6	chr10:46171106-46171156	ovcar-3	ovarian:	n/a
7	chr10:46198600-46198650	HL-60	blood:	n/a
8	chr10:46195640-46195690	Jurkat	blood:	n/a
9	chr10:46196039-46196089	RPTEC	kidney:	n/a
10	chr10:46195673-46195723	AG04450	lung:	fetal
11	chr10:46171106-46171156	NT2-D1	testis:	n/a
12	chr10:46194725-46194775	BE2_C	brain:	n/a
13	chr10:46193400-46193450	HL-60	blood:	n/a
14	chr10:46194725-46194775	A549	lung:	n/a
15	chr10:46195673-46195723	SK-N-MC	brain:	n/a
16	chr10:46171106-46171156	HEK293	kidney:	embryo
17	chr10:46194725-46194775	HPAEpiC	pulmonary alveolar:	n/a
18	chr10:46171106-46171156	HCPEpiC	choroid plexus:	n/a
19	chr10:46198600-46198650	AG04449	skin:	fetal
20	chr10:46194725-46194775	PANC-1	pancreas:	n/a
21	chr10:46198600-46198650	PANC-1	pancreas:	n/a
22	chr10:46198600-46198650	NHDF-neo	bronchial:	n/a
23	chr10:46195640-46195690	IMR90	lung:	fetal
24	chr10:46193400-46193450	AG04449	skin:	fetal
25	chr10:46194725-46194775	HAEpiC	amniotic membrane:	n/a
26	chr10:46196039-46196089	HCF	heart:	n/a
27	chr10:46193400-46193450	MCF10A-Er-Src	breast:	n/a
28	chr10:46195673-46195723	NHDF-neo	bronchial:	n/a
29	chr10:46193400-46193450	GM06990	blood:	n/a
30	chr10:46194725-46194775	T-47D	breast:	n/a
31	chr10:46198600-46198650	HNPCEpiC	eye:	n/a
32	chr10:46171106-46171156	CMK	blood:	n/a
33	chr10:46171106-46171156	BE2_C	brain:	n/a
34	chr10:46193400-46193450	Caco-2	colon:	n/a
35	chr10:46171106-46171156	LNCaP	prostate:	n/a
36	chr10:46194725-46194775	AG04450	lung:	fetal
37	chr10:46195673-46195723	SKMC	muscle:	n/a
38	chr10:46193400-46193450	GM12891	blood:	n/a
39	chr10:46171106-46171156	BJ	skin:	n/a
40	chr10:46171106-46171156	GM19239	blood:	n/a
41	chr10:46195673-46195723	HCF	heart:	n/a
42	chr10:46193400-46193450	SKMC	muscle:	n/a
43	chr10:46194725-46194775	AG09319	gingival:	n/a
44	chr10:46198600-46198650	MCF-7	breast:	n/a
45	chr10:46196039-46196089	HIPEpiC	eye:	n/a
46	chr10:46195673-46195723	PANC-1	pancreas:	n/a
47	chr10:46193400-46193450	SAEC	small airway:	n/a
48	chr10:46195640-46195690	AG09309	skin:	n/a
49	chr10:46195640-46195690	CMK	blood:	n/a
50	chr10:46193400-46193450	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: 152 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:152 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146997190	chr10:46169596-46169597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370507607	chr10:46169598-46169599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555519272	chr10:46169601-46169602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189531643	chr10:46169638-46169639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541169055	chr10:46169656-46169657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148062615	chr10:46169684-46169685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141729757	chr10:46169696-46169697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75832471	chr10:46169741-46169742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554035085	chr10:46169748-46169749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73292848	chr10:46169752-46169753	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs371343116	chr10:46169833-46169834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs3802542	chr10:46169848-46169849	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs567156410	chr10:46169876-46169877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182179670	chr10:46169879-46169880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537453716	chr10:46169888-46169889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12573627	chr10:46169914-46169915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371597544	chr10:46169924-46169925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546395501	chr10:46169927-46169928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571393025	chr10:46169931-46169932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73292849	chr10:46169948-46169949	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs79083998	chr10:46169970-46169971	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
22	rs568802772	chr10:46169975-46169976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536191906	chr10:46169993-46169994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555686042	chr10:46169998-46169999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113539854	chr10:46170132-46170133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571147343	chr10:46170137-46170138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541480466	chr10:46170138-46170139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539712878	chr10:46170170-46170171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553568386	chr10:46170176-46170177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185177820	chr10:46170262-46170263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553211584	chr10:46170287-46170288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188774187	chr10:46170294-46170295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369643075	chr10:46170300-46170301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545599402	chr10:46170313-46170314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563910892	chr10:46170386-46170387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372814687	chr10:46170774-46170775	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs567622364	chr10:46170804-46170805	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs563023436	chr10:46170816-46170817	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs181912304	chr10:46170866-46170867	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs189813038	chr10:46171735-46171736	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs180818400	chr10:46171748-46171749	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs571680255	chr10:46171749-46171750	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs539103564	chr10:46171755-46171756	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs149543698	chr10:46174412-46174413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560072921	chr10:46174420-46174421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs572122016	chr10:46174445-46174446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372247417	chr10:46174463-46174464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531734830	chr10:46174474-46174475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371519816	chr10:46174487-46174488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs201775122	chr10:46174491-46174492	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:46168800-46169800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr10:46169400-46170400	Enhancers	HepG2	liver
3	chr10:46174400-46174800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr10:46199200-46200200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr10:46199800-46221600	Weak transcription	Primary T cells from cord blood	blood
6	chr10:46200000-46210400	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr10:46200200-46201200	Weak transcription	Primary monocytes fromperipheralblood	blood

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