Variant report

Variant	nsv960963
Chromosome Location	chr2:63741610-63765229
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	ATF1	chr2:63752858-63753240	K562	blood:	n/a	n/a
2	BHLHE40	chr2:63753095-63753372	K562	blood:	n/a	n/a
3	BHLHE40	chr2:63753094-63753411	GM12878	blood:	n/a	n/a
4	CEBPB	chr2:63764543-63764776	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr2:63764517-63764721	IMR90	lung:	n/a	n/a
6	CEBPB	chr2:63757853-63758385	Hela-S3	cervix:	n/a	n/a
7	CHD2	chr2:63758075-63758386	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr2:63750575-63750631	GM13976	blood:	n/a	n/a
9	CTCF	chr2:63746460-63746610	WERI-Rb-1	eye:	n/a	n/a
10	CTCF	chr2:63760076-63760158	GM13976	blood:	n/a	n/a
11	E2F4	chr2:63764410-63764932	MCF10A-Er-Src	breast:	n/a	n/a
12	EGR1	chr2:63758082-63758285	K562	blood:	n/a	n/a
13	ELF1	chr2:63757963-63758112	HepG2	liver:	n/a	n/a
14	EP300	chr2:63752984-63753247	K562	blood:	n/a	chr2:63753008-63753022
15	FOS	chr2:63764402-63764954	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr2:63764502-63764838	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr2:63764413-63764940	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr2:63764420-63764930	MCF10A-Er-Src	breast:	n/a	n/a
19	FOXA1	chr2:63758186-63758400	HepG2	liver:	n/a	n/a
20	FOXA1	chr2:63758130-63758446	HepG2	liver:	n/a	n/a
21	FOXA1	chr2:63758063-63758476	HepG2	liver:	n/a	n/a
22	FOXA1	chr2:63758174-63758553	HepG2	liver:	n/a	n/a
23	FOXA2	chr2:63758167-63758561	A549	lung:	n/a	n/a
24	FOXA2	chr2:63758169-63758407	HepG2	liver:	n/a	n/a
25	GATA3	chr2:63764347-63764412	SH-SY5Y	brain:	n/a	n/a
26	JUND	chr2:63764645-63764788	H1-hESC	embryonic stem cell:	n/a	chr2:63764688-63764699
27	JUND	chr2:63764506-63764828	HepG2	liver:	n/a	chr2:63764688-63764699
28	JUND	chr2:63764473-63764924	SK-N-SH	brain:	n/a	chr2:63764688-63764699
29	JUND	chr2:63764650-63764725	K562	blood:	n/a	chr2:63764688-63764699
30	KAP1	chr2:63748178-63748420	U2OS	brain:	n/a	n/a
31	KAP1	chr2:63748067-63748570	HEK293	kidney:	n/a	n/a
32	KAT2A	chr2:63756481-63756685	GM12878	blood:	n/a	n/a
33	MAFK	chr2:63746837-63746944	HepG2	liver:	n/a	chr2:63746870-63746885
34	MAFK	chr2:63746846-63746886	HepG2	liver:	n/a	chr2:63746870-63746885
35	MAX	chr2:63757888-63758388	Hela-S3	cervix:	n/a	n/a
36	MYC	chr2:63764513-63764719	MCF10A-Er-Src	breast:	n/a	n/a
37	MYC	chr2:63764523-63764825	MCF10A-Er-Src	breast:	n/a	n/a
38	MYC	chr2:63753065-63753386	K562	blood:	n/a	n/a
39	MYC	chr2:63753094-63753147	NB4	blood:	n/a	n/a
40	MYC	chr2:63753142-63753279	K562	blood:	n/a	n/a
41	MYC	chr2:63746094-63746178	MCF-7	breast:	n/a	n/a
42	POLR2A	chr2:63758054-63758239	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr2:63757862-63758423	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr2:63741208-63742131	H1-neurons	neurons:	n/a	n/a
45	POLR2A	chr2:63764710-63764733	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr2:63745909-63746230	MCF-7	breast:	n/a	n/a
47	POLR2A	chr2:63758218-63758293	Gliobla	brain:	n/a	n/a
48	POLR2A	chr2:63747794-63747822	Gliobla	brain:	n/a	n/a
49	POLR2A	chr2:63764710-63764718	GM12878	blood:	n/a	n/a
50	POLR2A	chr2:63747834-63747965	Gliobla	brain:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VPS54-9	chr2:63745026-63746647	NONHSAT071059

Variant related genes	Relation type
ENSG00000203415	TF binding region

Extended variants
information (count: 668 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:668 , 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	rs542951611	chr2:63741668-63741669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561018035	chr2:63741678-63741679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181387223	chr2:63741688-63741689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186462012	chr2:63741717-63741718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571236893	chr2:63741721-63741722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190852281	chr2:63741746-63741747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550275924	chr2:63741804-63741805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76093919	chr2:63741818-63741819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544506398	chr2:63741819-63741820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540887287	chr2:63741830-63741831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182713599	chr2:63741859-63741860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564301266	chr2:63741912-63741913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144847695	chr2:63741935-63741936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187775084	chr2:63741964-63741965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534873774	chr2:63741994-63741995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553180226	chr2:63742065-63742066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs578012878	chr2:63742077-63742078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545499588	chr2:63742103-63742104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557031400	chr2:63742110-63742111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575597379	chr2:63742163-63742164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs13001572	chr2:63742177-63742178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184278603	chr2:63743678-63743679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533985917	chr2:63743715-63743716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs151241516	chr2:63743717-63743718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577098329	chr2:63743728-63743729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs59822561	chr2:63743776-63743777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544374571	chr2:63743778-63743779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs397775068	chr2:63743780-63743781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs115551128	chr2:63743810-63743811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533969857	chr2:63743836-63743837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371463427	chr2:63743846-63743847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188256537	chr2:63743886-63743887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559672654	chr2:63743893-63743894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527286530	chr2:63743903-63743904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182085172	chr2:63743904-63743905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565555313	chr2:63743915-63743916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532720190	chr2:63743947-63743948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551123959	chr2:63744012-63744013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569486020	chr2:63744077-63744078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140455437	chr2:63744078-63744079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184830738	chr2:63744082-63744083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566925008	chr2:63744112-63744113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189207686	chr2:63744195-63744196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558710921	chr2:63744262-63744263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555295181	chr2:63744267-63744268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs33977056	chr2:63744282-63744283	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs537891210	chr2:63744286-63744287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555899362	chr2:63744314-63744315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181670398	chr2:63744338-63744339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541667605	chr2:63744370-63744371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63734000-63742200	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr2:63739800-63741800	Weak transcription	Brain Angular Gyrus	brain
3	chr2:63741000-63742000	Enhancers	Brain Germinal Matrix	brain
4	chr2:63741600-63742000	Weak transcription	Aorta	Aorta
5	chr2:63741600-63742200	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr2:63741600-63742200	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr2:63741800-63742000	Enhancers	Brain Angular Gyrus	brain
8	chr2:63741800-63742200	Enhancers	Fetal Muscle Leg	muscle
9	chr2:63742000-63742200	Enhancers	Aorta	Aorta
10	chr2:63743600-63743800	Enhancers	Pancreas	Pancrea
11	chr2:63743800-63746400	Weak transcription	Pancreas	Pancrea
12	chr2:63744800-63746400	Weak transcription	Dnd41	blood
13	chr2:63745400-63746400	Weak transcription	Gastric	stomach
14	chr2:63745800-63746600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:63745800-63746600	Enhancers	Right Ventricle	heart
16	chr2:63746200-63746600	Enhancers	Right Atrium	heart
17	chr2:63746400-63746600	Enhancers	Gastric	stomach
18	chr2:63746400-63746600	ZNF genes & repeats	Pancreas	Pancrea
19	chr2:63746400-63746600	ZNF genes & repeats	Dnd41	blood
20	chr2:63746400-63746800	Enhancers	Psoas Muscle	Psoas
21	chr2:63746600-63747600	Weak transcription	Gastric	stomach
22	chr2:63747800-63748400	ZNF genes & repeats	Dnd41	blood
23	chr2:63748000-63748400	Weak transcription	Gastric	stomach
24	chr2:63748200-63749000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr2:63750000-63750600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:63751200-63757800	Weak transcription	Gastric	stomach
27	chr2:63757600-63757800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:63757600-63757800	Enhancers	Hela-S3	cervix
29	chr2:63757600-63758000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:63757600-63758400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:63757600-63758600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
32	chr2:63757600-63758600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:63757600-63758600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:63757800-63758400	ZNF genes & repeats	Gastric	stomach
35	chr2:63757800-63758600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:63757800-63758600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
37	chr2:63757800-63758600	Active TSS	Hela-S3	cervix
38	chr2:63757800-63759200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
39	chr2:63758000-63758200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:63758000-63758400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
41	chr2:63758000-63758400	Enhancers	Right Ventricle	heart
42	chr2:63758000-63758400	ZNF genes & repeats	Thymus	Thymus
43	chr2:63758000-63758800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
44	chr2:63758400-63761600	Weak transcription	Gastric	stomach
45	chr2:63758600-63758800	Enhancers	Hela-S3	cervix
46	chr2:63764000-63764800	Enhancers	Psoas Muscle	Psoas
47	chr2:63764200-63764800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:63764200-63765000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:63764200-63765200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:63764200-63765200	Enhancers	HMEC	breast

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