Variant report

Variant	nsv947763
Chromosome Location	chr10:21316626-21319916
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:46)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:46 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr10:21319168-21319334	K562	blood:	n/a	n/a
2	CEBPB	chr10:21319181-21319273	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr10:21317971-21318129	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr10:21318455-21318512	LNCaP	prostate:	n/a	n/a
5	CTCF	chr10:21318503-21318533	Spleen_OC	spleen:	n/a	n/a
6	CTCF	chr10:21318111-21318175	GM19238	blood:	n/a	n/a
7	E2F4	chr10:21319150-21319350	MCF10A-Er-Src	breast:	n/a	n/a
8	ELF1	chr10:21319025-21319350	K562	blood:	n/a	n/a
9	ELK1	chr10:21319299-21319300	Hela-S3	cervix:	n/a	n/a
10	ETS1	chr10:21319164-21319318	K562	blood:	n/a	n/a
11	FOS	chr10:21319036-21319417	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr10:21319060-21319420	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr10:21319060-21319924	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr10:21319623-21319887	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr10:21319070-21319881	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr10:21319688-21319808	MCF10A-Er-Src	breast:	n/a	n/a
17	FOSL1	chr10:21319050-21319382	K562	blood:	n/a	n/a
18	FOSL2	chr10:21319157-21319351	A549	lung:	n/a	n/a
19	FOSL2	chr10:21319053-21319390	HepG2	liver:	n/a	n/a
20	FOSL2	chr10:21318912-21319478	A549	lung:	n/a	n/a
21	GABPA	chr10:21318882-21319537	A549	lung:	n/a	n/a
22	GABPA	chr10:21319135-21319258	Hela-S3	cervix:	n/a	n/a
23	GABPA	chr10:21319155-21319289	HepG2	liver:	n/a	n/a
24	GABPA	chr10:21319077-21319332	K562	blood:	n/a	n/a
25	GABPA	chr10:21319084-21319375	K562	blood:	n/a	n/a
26	GABPA	chr10:21318999-21319426	A549	lung:	n/a	n/a
27	GABPA	chr10:21319126-21319301	HepG2	liver:	n/a	n/a
28	JUN	chr10:21319093-21319311	K562	blood:	n/a	n/a
29	JUN	chr10:21318938-21319525	K562	blood:	n/a	n/a
30	JUND	chr10:21319219-21319263	HepG2	liver:	n/a	chr10:21319242-21319253
31	JUND	chr10:21319066-21319449	A549	lung:	n/a	chr10:21319242-21319253
32	JUND	chr10:21319079-21319444	K562	blood:	n/a	chr10:21319242-21319253
33	MYC	chr10:21319124-21319366	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr10:21318695-21318813	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr10:21318916-21319458	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr10:21318764-21319457	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr10:21318714-21318835	Gliobla	brain:	n/a	n/a
38	POLR2A	chr10:21319183-21319475	Gliobla	brain:	n/a	n/a
39	RAD21	chr10:21317998-21318237	H1-hESC	embryonic stem cell:	n/a	n/a
40	RAD21	chr10:21317995-21318238	H1-hESC	embryonic stem cell:	n/a	n/a
41	RCOR1	chr10:21319198-21319199	K562	blood:	n/a	n/a
42	SETDB1	chr10:21318527-21318727	U2OS	brain:	n/a	n/a
43	STAT3	chr10:21319087-21319330	MCF10A-Er-Src	breast:	n/a	n/a
44	STAT3	chr10:21319087-21319325	MCF10A-Er-Src	breast:	n/a	n/a
45	STAT3	chr10:21319023-21319798	MCF10A-Er-Src	breast:	n/a	n/a
46	TAF1	chr10:21319012-21319325	PFSK-1	brain:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:21318882-21318932	Caco-2	colon:	n/a
2	chr10:21318531-21318581	HEEpiC	esophagus:	n/a
3	chr10:21318531-21318581	HNPCEpiC	eye:	n/a
4	chr10:21318531-21318581	HEK293	kidney:	embryo
5	chr10:21318531-21318581	PFSK-1	brain:	n/a
6	chr10:21318531-21318581	Hepatocyte	liver:	n/a
7	chr10:21318531-21318581	AG04449	skin:	fetal
8	chr10:21318531-21318581	HRPEpiC	eye:	n/a
9	chr10:21318882-21318932	GM06990	blood:	n/a
10	chr10:21318531-21318581	A549	lung:	n/a
11	chr10:21318531-21318581	BJ	skin:	n/a
12	chr10:21318882-21318932	HRCEpiC	kidney:	n/a
13	chr10:21318882-21318932	K562	blood:	n/a
14	chr10:21318882-21318932	HUVEC	blood vessel:	n/a
15	chr10:21318531-21318581	CMK	blood:	n/a
16	chr10:21318531-21318581	BE2_C	brain:	n/a
17	chr10:21318531-21318581	SK-N-SH	brain:	n/a
18	chr10:21318531-21318581	SK-N-MC	brain:	n/a
19	chr10:21318882-21318932	ProgFib	skin:	n/a
20	chr10:21318882-21318932	PFSK-1	brain:	n/a
21	chr10:21318882-21318932	MCF-7	breast:	n/a
22	chr10:21318882-21318932	CMK	blood:	n/a
23	chr10:21318531-21318581	SK-N-SH_RA	brain:	n/a
24	chr10:21318882-21318932	A549	lung:	n/a
25	chr10:21318882-21318932	BJ	skin:	n/a
26	chr10:21318531-21318581	HIPEpiC	eye:	n/a
27	chr10:21318531-21318581	H1-hESC	embryonic stem cell:	embryo
28	chr10:21318882-21318932	BE2_C	brain:	n/a
29	chr10:21318531-21318581	Hela-S3	cervix:	n/a
30	chr10:21318882-21318932	SK-N-SH_RA	brain:	n/a
31	chr10:21318531-21318581	HRE	kidney:	n/a
32	chr10:21318531-21318581	RPTEC	kidney:	n/a
33	chr10:21318531-21318581	U87	brain:	n/a
34	chr10:21318531-21318581	HUVEC	blood vessel:	n/a
35	chr10:21318531-21318581	HAEpiC	amniotic membrane:	n/a
36	chr10:21318531-21318581	IMR90	lung:	fetal
37	chr10:21318882-21318932	AG09309	skin:	n/a
38	chr10:21318531-21318581	AoSMC	blood vessel:	n/a
39	chr10:21318882-21318932	T-47D	breast:	n/a
40	chr10:21318882-21318932	HL-60	blood:	n/a
41	chr10:21318531-21318581	NHDF-neo	bronchial:	n/a
42	chr10:21318882-21318932	RPTEC	kidney:	n/a
43	chr10:21318531-21318581	GM12891	blood:	n/a
44	chr10:21318531-21318581	ECC-1	luminal epithelium:	n/a
45	chr10:21318531-21318581	NH-A	brain:	n/a
46	chr10:21318882-21318932	Jurkat	blood:	n/a
47	chr10:21318531-21318581	HCM	heart:	n/a
48	chr10:21318882-21318932	HRE	kidney:	n/a
49	chr10:21318531-21318581	AG04450	lung:	fetal
50	chr10:21318531-21318581	GM19239	blood:	n/a

No data

Variant related genes	Relation type
EIF4BP2	TF binding region
EIF4BP2	CpG island

Extended variants
information (count: 135 )
Associated
traits (count: 37 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77559905	chr10:21316635-21316636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573875139	chr10:21316685-21316686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs386741750	chr10:21316718-21316719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140960995	chr10:21316719-21316720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568289354	chr10:21316815-21316816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533155206	chr10:21316833-21316834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192016962	chr10:21316835-21316836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115261348	chr10:21316862-21316863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150189554	chr10:21316890-21316891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549527792	chr10:21316923-21316924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs180747671	chr10:21316982-21316983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566159614	chr10:21316983-21316984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535282915	chr10:21316985-21316986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185102779	chr10:21316992-21316993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs578228785	chr10:21317015-21317016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138823295	chr10:21317064-21317065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556227262	chr10:21317143-21317144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189954300	chr10:21317147-21317148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373892146	chr10:21317148-21317149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11012493	chr10:21317166-21317167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370960795	chr10:21317168-21317169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560874341	chr10:21317170-21317171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374154151	chr10:21317171-21317172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565178996	chr10:21317172-21317173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559412056	chr10:21317174-21317175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs71392105	chr10:21317176-21317177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370705101	chr10:21317177-21317178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199805565	chr10:21317180-21317181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs56366109	chr10:21317181-21317182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs55945604	chr10:21317183-21317184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374374202	chr10:21317184-21317185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188358702	chr10:21317203-21317204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376696947	chr10:21317371-21317372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532920120	chr10:21317386-21317387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545144880	chr10:21317387-21317388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79062092	chr10:21317401-21317402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563364764	chr10:21317448-21317449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7918689	chr10:21317451-21317452	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs549218817	chr10:21317468-21317469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566217840	chr10:21317478-21317479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7898342	chr10:21317504-21317505	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs575034743	chr10:21317514-21317515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143083526	chr10:21317533-21317534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191984597	chr10:21317558-21317559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537768644	chr10:21317643-21317644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556165614	chr10:21317674-21317675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201528218	chr10:21317702-21317703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201150512	chr10:21317705-21317706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569682718	chr10:21317706-21317707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183799006	chr10:21317709-21317710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:37)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	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
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	21525872	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:21290400-21319800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr10:21305200-21319800	Weak transcription	Brain Hippocampus Middle	brain
3	chr10:21309000-21318600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr10:21311200-21318000	Weak transcription	Lung	lung
5	chr10:21311200-21322200	Weak transcription	Brain Anterior Caudate	brain
6	chr10:21312400-21318000	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr10:21316200-21318000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr10:21318000-21318800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr10:21318000-21319400	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr10:21318000-21319400	Active TSS	A549	lung
11	chr10:21318600-21318800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr10:21318600-21318800	Enhancers	Spleen	Spleen
13	chr10:21318600-21319800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
14	chr10:21318800-21319000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr10:21318800-21319000	Weak transcription	Lung	lung
16	chr10:21318800-21319200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
17	chr10:21319000-21319400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr10:21319000-21319400	Enhancers	HUVEC	blood vessel
19	chr10:21319000-21319600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr10:21319200-21319600	Enhancers	HMEC	breast
21	chr10:21319200-21319800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr10:21319200-21320000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr10:21319400-21319600	Enhancers	K562	blood
24	chr10:21319400-21319800	Flanking Active TSS	A549	lung
25	chr10:21319600-21320600	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr10:21319800-21320000	ZNF genes & repeats	Esophagus	oesophagus
27	chr10:21319800-21320000	Enhancers	A549	lung
28	chr10:21319800-21320400	Enhancers	Brain Hippocampus Middle	brain
29	chr10:21319800-21323400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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