Variant report

Variant	nsv470494
Chromosome Location	chr3:21839871-21872193
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr3:21840231-21840551	IMR90	lung:	n/a	chr3:21840366-21840377
2	CEBPB	chr3:21840207-21840516	HepG2	liver:	n/a	chr3:21840366-21840377
3	CEBPB	chr3:21840251-21840506	K562	blood:	n/a	chr3:21840366-21840377
4	CEBPB	chr3:21840301-21840516	A549	lung:	n/a	chr3:21840366-21840377
5	CTCF	chr3:21867300-21867450	HepG2	liver:	n/a	n/a
6	CTCF	chr3:21867312-21867465	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr3:21867245-21867463	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr3:21850080-21850230	NHDF-neo	bronchial:	n/a	n/a
9	CTCF	chr3:21867220-21867370	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr3:21867380-21867530	SK-N-SH_RA	brain:	n/a	n/a
11	CTCF	chr3:21867300-21867450	NB4	blood:	n/a	n/a
12	CTCF	chr3:21843120-21843270	HCPEpiC	choroid plexus:	n/a	n/a
13	CTCF	chr3:21867280-21867430	WERI-Rb-1	eye:	n/a	n/a
14	E2F4	chr3:21861170-21861880	MCF10A-Er-Src	breast:	n/a	n/a
15	E2F4	chr3:21864608-21864808	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr3:21869377-21869606	MCF10A-Er-Src	breast:	n/a	chr3:21869461-21869471 chr3:21869495-21869506 chr3:21869493-21869504 chr3:21869462-21869470 chr3:21869458-21869469
17	FOS	chr3:21869378-21869614	MCF10A-Er-Src	breast:	n/a	chr3:21869461-21869471 chr3:21869495-21869506 chr3:21869493-21869504 chr3:21869462-21869470 chr3:21869458-21869469
18	FOS	chr3:21845265-21845465	MCF10A-Er-Src	breast:	n/a	n/a
19	GATA3	chr3:21841540-21841706	SH-SY5Y	brain:	n/a	n/a
20	GATA3	chr3:21871027-21871103	SH-SY5Y	brain:	n/a	n/a
21	JUN	chr3:21846126-21846135	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAFK	chr3:21861403-21861580	HepG2	liver:	n/a	n/a
23	MYC	chr3:21863367-21863383	MCF-7	breast:	n/a	n/a
24	POLR2A	chr3:21846899-21847089	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr3:21854030-21854129	A549	lung:	n/a	n/a
26	POLR2A	chr3:21853942-21854013	A549	lung:	n/a	n/a
27	POLR2A	chr3:21864231-21864253	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr3:21841304-21841336	GM12878	blood:	n/a	n/a
29	POLR2A	chr3:21848890-21849004	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr3:21854010-21854218	MCF-7	breast:	n/a	n/a
31	POLR2A	chr3:21861886-21862205	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr3:21840661-21840967	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr3:21863291-21863419	MCF-7	breast:	n/a	n/a
34	POLR2A	chr3:21865947-21866121	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr3:21845058-21845553	H1-neurons	neurons:	n/a	n/a
36	POLR2A	chr3:21860799-21860887	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr3:21845093-21845466	H1-neurons	neurons:	n/a	n/a
38	POLR2A	chr3:21872183-21872344	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr3:21845267-21845324	MCF10A-Er-Src	breast:	n/a	n/a
40	RAD21	chr3:21867238-21867557	H1-hESC	embryonic stem cell:	n/a	n/a
41	RAD21	chr3:21867253-21867506	H1-hESC	embryonic stem cell:	n/a	n/a
42	RAD21	chr3:21867228-21867490	H1-hESC	embryonic stem cell:	n/a	n/a
43	REST	chr3:21844140-21845769	H1-neurons	neurons:	n/a	n/a
44	REST	chr3:21845011-21845649	H1-neurons	neurons:	n/a	n/a
45	SPI1	chr3:21857707-21857997	GM12878	blood:	n/a	n/a
46	SPI1	chr3:21857766-21857918	K562	blood:	n/a	n/a
47	SPI1	chr3:21857760-21857939	GM12891	blood:	n/a	n/a
48	SPI1	chr3:21868331-21868580	HL-60	blood:	n/a	n/a
49	STAT3	chr3:21853284-21853454	MCF10A-Er-Src	breast:	n/a	n/a
50	STAT3	chr3:21845173-21845565	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:21834699..21836749-chr3:21841872..21843616,2	K562	blood:
2	chr3:21835216..21837652-chr3:21840366..21842817,3	K562	blood:

Variant related genes	Relation type
ENSG00000221384	TF binding region

Extended variants
information (count: 682 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:682 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181228944	chr3:21843014-21843015	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs71310284	chr3:21843024-21843025	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs185627758	chr3:21843036-21843037	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs141889254	chr3:21843075-21843076	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs75782297	chr3:21843076-21843077	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs576014978	chr3:21843077-21843078	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs190096813	chr3:21843095-21843096	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs146294891	chr3:21843154-21843155	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs532621775	chr3:21843163-21843164	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs148500242	chr3:21843180-21843181	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs35771158	chr3:21843187-21843188	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs562176584	chr3:21843192-21843193	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs74812288	chr3:21843199-21843200	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs374352964	chr3:21843222-21843223	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs545466512	chr3:21843242-21843243	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs570040223	chr3:21843244-21843245	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs530953795	chr3:21843264-21843265	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs531226288	chr3:21843274-21843275	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs183783919	chr3:21843282-21843283	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs186688014	chr3:21843287-21843288	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs551431767	chr3:21843296-21843297	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs142809444	chr3:21843297-21843298	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs192361621	chr3:21843380-21843381	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs565929221	chr3:21843386-21843387	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs183755743	chr3:21843419-21843420	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs187884888	chr3:21843447-21843448	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs60353368	chr3:21843467-21843468	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs543408792	chr3:21843521-21843522	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs558226609	chr3:21843529-21843530	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs116796228	chr3:21843531-21843532	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs139778594	chr3:21843532-21843533	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs559598200	chr3:21843534-21843535	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs574727396	chr3:21843543-21843544	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs1878009	chr3:21843560-21843561	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs534364035	chr3:21843581-21843582	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs552507575	chr3:21844409-21844410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145633110	chr3:21844436-21844437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs535810165	chr3:21844447-21844448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145416821	chr3:21844452-21844453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76340916	chr3:21844471-21844472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs111635384	chr3:21844483-21844484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs148813298	chr3:21844488-21844489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558297333	chr3:21844535-21844536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573345743	chr3:21844538-21844539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs117601485	chr3:21844545-21844546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561980890	chr3:21844567-21844568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529285777	chr3:21844586-21844587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559941312	chr3:21844622-21844623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541787285	chr3:21844656-21844657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563585698	chr3:21844679-21844680	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21843000-21843600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr3:21844400-21846400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr3:21844600-21844800	Enhancers	Aorta	Aorta
4	chr3:21844800-21850200	Weak transcription	Aorta	Aorta
5	chr3:21847600-21848000	Enhancers	Fetal Muscle Trunk	muscle
6	chr3:21850000-21850400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:21850200-21850400	Enhancers	Aorta	Aorta
8	chr3:21853800-21854400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr3:21867400-21868000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:21867400-21869400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:21867600-21868200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr3:21867600-21868600	Enhancers	Fetal Heart	heart
13	chr3:21867600-21868600	Enhancers	HSMMtube	muscle
14	chr3:21867800-21868000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr3:21867800-21868200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr3:21867800-21868200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:21867800-21868400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:21867800-21868600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:21867800-21869400	Enhancers	HSMM	muscle
20	chr3:21868000-21868400	Enhancers	NH-A	brain
21	chr3:21868000-21871600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr3:21868200-21872200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr3:21868400-21870200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:21871600-21873200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr3:21871800-21872400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr3:21871800-21872400	Enhancers	Fetal Lung	lung
27	chr3:21872000-21873200	Enhancers	Muscle Satellite Cultured Cells	--

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