Variant report

Variant	nsv975768
Chromosome Location	chr10:21313038-21319916
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:59)
CpG islands
(count:122)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:59 , 50 per page) page: 1 2

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	chr10:21317971-21318129	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr10:21319181-21319273	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr10:21315840-21315990	GM12871	blood:	n/a	n/a
5	CTCF	chr10:21315800-21315950	Caco-2	colon:	n/a	n/a
6	CTCF	chr10:21315186-21315254	MCF-7	breast:	n/a	n/a
7	CTCF	chr10:21318455-21318512	LNCaP	prostate:	n/a	n/a
8	CTCF	chr10:21315740-21315890	HEK293	kidney:	n/a	n/a
9	CTCF	chr10:21318503-21318533	Spleen_OC	spleen:	n/a	n/a
10	CTCF	chr10:21315175-21315266	GM19239	blood:	n/a	n/a
11	CTCF	chr10:21315156-21315261	HepG2	liver:	n/a	n/a
12	CTCF	chr10:21315220-21315245	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr10:21315860-21316010	GM12869	blood:	n/a	n/a
14	CTCF	chr10:21318111-21318175	GM19238	blood:	n/a	n/a
15	E2F4	chr10:21319150-21319350	MCF10A-Er-Src	breast:	n/a	n/a
16	ELF1	chr10:21319025-21319350	K562	blood:	n/a	n/a
17	ELK1	chr10:21319299-21319300	Hela-S3	cervix:	n/a	n/a
18	ETS1	chr10:21319164-21319318	K562	blood:	n/a	n/a
19	FOS	chr10:21319623-21319887	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr10:21319060-21319924	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr10:21319060-21319420	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr10:21319688-21319808	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr10:21319070-21319881	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr10:21319036-21319417	MCF10A-Er-Src	breast:	n/a	n/a
25	FOSL1	chr10:21319050-21319382	K562	blood:	n/a	n/a
26	FOSL2	chr10:21319157-21319351	A549	lung:	n/a	n/a
27	FOSL2	chr10:21319053-21319390	HepG2	liver:	n/a	n/a
28	FOSL2	chr10:21318912-21319478	A549	lung:	n/a	n/a
29	GABPA	chr10:21319084-21319375	K562	blood:	n/a	n/a
30	GABPA	chr10:21319126-21319301	HepG2	liver:	n/a	n/a
31	GABPA	chr10:21318882-21319537	A549	lung:	n/a	n/a
32	GABPA	chr10:21319077-21319332	K562	blood:	n/a	n/a
33	GABPA	chr10:21318999-21319426	A549	lung:	n/a	n/a
34	GABPA	chr10:21319135-21319258	Hela-S3	cervix:	n/a	n/a
35	GABPA	chr10:21319155-21319289	HepG2	liver:	n/a	n/a
36	JUN	chr10:21318938-21319525	K562	blood:	n/a	n/a
37	JUN	chr10:21319093-21319311	K562	blood:	n/a	n/a
38	JUND	chr10:21319079-21319444	K562	blood:	n/a	chr10:21319242-21319253
39	JUND	chr10:21319066-21319449	A549	lung:	n/a	chr10:21319242-21319253
40	JUND	chr10:21319219-21319263	HepG2	liver:	n/a	chr10:21319242-21319253
41	MYC	chr10:21319124-21319366	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr10:21318714-21318835	Gliobla	brain:	n/a	n/a
43	POLR2A	chr10:21316301-21316459	MCF-7	breast:	n/a	n/a
44	POLR2A	chr10:21318764-21319457	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr10:21319183-21319475	Gliobla	brain:	n/a	n/a
46	POLR2A	chr10:21318695-21318813	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr10:21318916-21319458	MCF10A-Er-Src	breast:	n/a	n/a
48	RAD21	chr10:21317995-21318238	H1-hESC	embryonic stem cell:	n/a	n/a
49	RAD21	chr10:21315649-21315961	H1-hESC	embryonic stem cell:	n/a	n/a
50	RAD21	chr10:21317998-21318237	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:21318531-21318581	AG04450	lung:	fetal
2	chr10:21318531-21318581	HRE	kidney:	n/a
3	chr10:21318531-21318581	U87	brain:	n/a
4	chr10:21318531-21318581	HRPEpiC	eye:	n/a
5	chr10:21318882-21318932	ECC-1	luminal epithelium:	n/a
6	chr10:21318531-21318581	SK-N-SH_RA	brain:	n/a
7	chr10:21318882-21318932	HIPEpiC	eye:	n/a
8	chr10:21318882-21318932	HMEC	breast:	n/a
9	chr10:21318882-21318932	H1-hESC	embryonic stem cell:	embryo
10	chr10:21318531-21318581	HCPEpiC	choroid plexus:	n/a
11	chr10:21318882-21318932	NB4	blood:	n/a
12	chr10:21318882-21318932	HRPEpiC	eye:	n/a
13	chr10:21318882-21318932	GM12892	blood:	n/a
14	chr10:21318531-21318581	BE2_C	brain:	n/a
15	chr10:21318882-21318932	GM19239	blood:	n/a
16	chr10:21318882-21318932	BE2_C	brain:	n/a
17	chr10:21318531-21318581	CMK	blood:	n/a
18	chr10:21318882-21318932	SKMC	muscle:	n/a
19	chr10:21318531-21318581	LNCaP	prostate:	n/a
20	chr10:21318882-21318932	AG04450	lung:	fetal
21	chr10:21318882-21318932	ovcar-3	ovarian:	n/a
22	chr10:21318531-21318581	HNPCEpiC	eye:	n/a
23	chr10:21318882-21318932	HCPEpiC	choroid plexus:	n/a
24	chr10:21318882-21318932	HNPCEpiC	eye:	n/a
25	chr10:21318882-21318932	Hepatocyte	liver:	n/a
26	chr10:21318882-21318932	K562	blood:	n/a
27	chr10:21318882-21318932	GM06990	blood:	n/a
28	chr10:21318531-21318581	A549	lung:	n/a
29	chr10:21318531-21318581	MCF-7	breast:	n/a
30	chr10:21318882-21318932	GM12878	blood:	n/a
31	chr10:21318531-21318581	HCM	heart:	n/a
32	chr10:21318531-21318581	NHDF-neo	bronchial:	n/a
33	chr10:21318531-21318581	NT2-D1	testis:	n/a
34	chr10:21318531-21318581	H1-hESC	embryonic stem cell:	embryo
35	chr10:21318531-21318581	HEK293	kidney:	embryo
36	chr10:21318531-21318581	SK-N-SH	brain:	n/a
37	chr10:21318531-21318581	GM12891	blood:	n/a
38	chr10:21318531-21318581	SKMC	muscle:	n/a
39	chr10:21318531-21318581	HIPEpiC	eye:	n/a
40	chr10:21318531-21318581	GM12878	blood:	n/a
41	chr10:21318531-21318581	SK-N-MC	brain:	n/a
42	chr10:21318531-21318581	SAEC	small airway:	n/a
43	chr10:21318531-21318581	AG10803	skin:	n/a
44	chr10:21318882-21318932	NHDF-neo	bronchial:	n/a
45	chr10:21318882-21318932	NHBE	bronchial:	n/a
46	chr10:21318882-21318932	BJ	skin:	n/a
47	chr10:21318531-21318581	NB4	blood:	n/a
48	chr10:21318531-21318581	HRCEpiC	kidney:	n/a
49	chr10:21318882-21318932	AG10803	skin:	n/a
50	chr10:21318882-21318932	PrEC	prostate:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr10:21313895..21316100-chr10:21461488..21463800,2	MCF-7	breast:
2	chr10:21308174..21311563-chr10:21311855..21315770,3	K562	blood:
3	chr10:21311294..21314018-chr10:21316191..21318955,2	MCF-7	breast:

No data

Variant related genes	Relation type
EIF4BP2	TF binding region
EIF4BP2	CpG island
ENSG00000078114	chromatin interactions
ENSG00000228753	chromatin interactions
ENSG00000231920	chromatin interactions

Extended variants
information (count: 292 )
Associated
traits (count: 37 )

Variant overlapped rSNPs/rCNVs (count:292 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3898964	chr10:21313038-21313039	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs570972345	chr10:21313099-21313100	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs538021196	chr10:21313135-21313136	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs556267081	chr10:21313192-21313193	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs574576779	chr10:21313267-21313268	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs117692689	chr10:21313291-21313292	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs553877704	chr10:21313295-21313296	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs534129505	chr10:21313438-21313439	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs79563318	chr10:21313439-21313440	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs553894116	chr10:21313444-21313445	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs35574671	chr10:21313445-21313446	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs397976219	chr10:21313451-21313452	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs182727673	chr10:21313482-21313483	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs545790434	chr10:21313484-21313485	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs661924	chr10:21313556-21313557	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs72790573	chr10:21313558-21313559	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs188705387	chr10:21313583-21313584	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs113584021	chr10:21313589-21313590	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs561804990	chr10:21313634-21313635	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs72790575	chr10:21313723-21313724	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs200866842	chr10:21313748-21313749	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs56293124	chr10:21313749-21313750	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs398096840	chr10:21313755-21313756	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs201539771	chr10:21313756-21313757	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs193078976	chr10:21313815-21313816	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs565548587	chr10:21313817-21313818	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs532906798	chr10:21313849-21313850	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs552616702	chr10:21313852-21313853	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs145649868	chr10:21313854-21313855	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs538084436	chr10:21313855-21313856	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs556330325	chr10:21313914-21313915	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs568263903	chr10:21313933-21313934	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs536033057	chr10:21313936-21313937	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs553171584	chr10:21313967-21313968	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs371724530	chr10:21314032-21314033	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs117272444	chr10:21314037-21314038	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs185867636	chr10:21314063-21314064	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs368457929	chr10:21314100-21314101	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs75021525	chr10:21314127-21314128	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs544673207	chr10:21314141-21314142	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs149590364	chr10:21314167-21314168	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs187521574	chr10:21314168-21314169	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs528618697	chr10:21314203-21314204	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs79737221	chr10:21314204-21314205	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs545643571	chr10:21314247-21314248	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs563942659	chr10:21314253-21314254	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs560765461	chr10:21314264-21314265	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs144306003	chr10:21314265-21314266	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs542443614	chr10:21314411-21314412	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs375746184	chr10:21314425-21314426	Weak transcription	Chromatin interactive region	2 gene(s)	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:36 , 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	chr10:21305200-21315600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr10:21305200-21319800	Weak transcription	Brain Hippocampus Middle	brain
4	chr10:21309000-21318600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr10:21309600-21316400	Weak transcription	Spleen	Spleen
6	chr10:21311200-21318000	Weak transcription	Lung	lung
7	chr10:21311200-21322200	Weak transcription	Brain Anterior Caudate	brain
8	chr10:21312400-21313200	Weak transcription	Fetal Lung	lung
9	chr10:21312400-21314200	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr10:21312400-21318000	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr10:21313200-21313400	Enhancers	Fetal Lung	lung
12	chr10:21313400-21313800	Weak transcription	Fetal Lung	lung
13	chr10:21313800-21314200	Enhancers	Fetal Lung	lung
14	chr10:21316200-21318000	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr10:21318000-21318800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr10:21318000-21319400	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr10:21318000-21319400	Active TSS	A549	lung
18	chr10:21318600-21318800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr10:21318600-21318800	Enhancers	Spleen	Spleen
20	chr10:21318600-21319800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
21	chr10:21318800-21319000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr10:21318800-21319000	Weak transcription	Lung	lung
23	chr10:21318800-21319200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
24	chr10:21319000-21319400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr10:21319000-21319400	Enhancers	HUVEC	blood vessel
26	chr10:21319000-21319600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr10:21319200-21319600	Enhancers	HMEC	breast
28	chr10:21319200-21319800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr10:21319200-21320000	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr10:21319400-21319600	Enhancers	K562	blood
31	chr10:21319400-21319800	Flanking Active TSS	A549	lung
32	chr10:21319600-21320600	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr10:21319800-21320000	ZNF genes & repeats	Esophagus	oesophagus
34	chr10:21319800-21320000	Enhancers	A549	lung
35	chr10:21319800-21320400	Enhancers	Brain Hippocampus Middle	brain
36	chr10:21319800-21323400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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