Variant report

Variant	nsv581506
Chromosome Location	chr2:40809049-40848645
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	CCNT2	chr2:40818684-40818884	K562	blood:	n/a	n/a
2	CEBPB	chr2:40818142-40818269	HepG2	liver:	n/a	chr2:40818148-40818159
3	CTCF	chr2:40835900-40836050	NHEK	skin:	n/a	n/a
4	CTCF	chr2:40843055-40843124	Kidney_OC	kidney:	n/a	n/a
5	CTCF	chr2:40814407-40814448	A549	lung:	n/a	n/a
6	E2F4	chr2:40835780-40835952	MCF10A-Er-Src	breast:	n/a	n/a
7	E2F4	chr2:40821912-40822060	MCF10A-Er-Src	breast:	n/a	n/a
8	EP300	chr2:40843652-40844316	SK-N-SH	brain:	n/a	n/a
9	FOS	chr2:40811516-40812051	HUVEC	blood vessel:	n/a	n/a
10	FOS	chr2:40811767-40811967	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr2:40811639-40812060	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr2:40811683-40812044	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr2:40821905-40822008	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr2:40834167-40834274	MCF10A-Er-Src	breast:	n/a	n/a
15	GATA2	chr2:40843913-40844188	SH-SY5Y	brain:	n/a	n/a
16	GATA2	chr2:40826457-40826740	SH-SY5Y	brain:	n/a	chr2:40826698-40826706
17	GATA3	chr2:40826450-40826874	SH-SY5Y	brain:	n/a	chr2:40826698-40826706
18	GATA3	chr2:40827382-40827558	SH-SY5Y	brain:	n/a	n/a
19	GATA3	chr2:40831408-40831552	SH-SY5Y	brain:	n/a	chr2:40831450-40831466 chr2:40831452-40831464 chr2:40831457-40831464
20	GATA3	chr2:40843288-40843369	SH-SY5Y	brain:	n/a	n/a
21	GATA3	chr2:40820273-40820452	SH-SY5Y	brain:	n/a	n/a
22	GATA3	chr2:40827895-40827916	SH-SY5Y	brain:	n/a	n/a
23	GATA3	chr2:40843791-40844144	SH-SY5Y	brain:	n/a	chr2:40843893-40843902 chr2:40843892-40843902 chr2:40843893-40843900 chr2:40843893-40843900 chr2:40843886-40843907 chr2:40843893-40843900
24	GATA3	chr2:40834484-40834672	SH-SY5Y	brain:	n/a	n/a
25	IRF3	chr2:40820848-40820882	GM12878	blood:	n/a	n/a
26	MAFF	chr2:40809694-40809894	HepG2	liver:	n/a	n/a
27	MAFF	chr2:40827619-40827873	HepG2	liver:	n/a	n/a
28	MAFF	chr2:40823490-40823696	HepG2	liver:	n/a	n/a
29	MAFK	chr2:40827566-40827859	HepG2	liver:	n/a	chr2:40827708-40827722 chr2:40827705-40827720 chr2:40827705-40827721 chr2:40827710-40827721 chr2:40827710-40827721
30	MAFK	chr2:40823450-40823715	HepG2	liver:	n/a	n/a
31	MAFK	chr2:40823446-40823746	HepG2	liver:	n/a	n/a
32	MAFK	chr2:40809679-40809965	HepG2	liver:	n/a	n/a
33	MAFK	chr2:40809661-40809977	HepG2	liver:	n/a	n/a
34	MAFK	chr2:40827624-40827824	IMR90	lung:	n/a	chr2:40827708-40827722 chr2:40827705-40827720 chr2:40827705-40827721 chr2:40827710-40827721 chr2:40827710-40827721
35	MAFK	chr2:40827547-40827868	HepG2	liver:	n/a	chr2:40827708-40827722 chr2:40827705-40827720 chr2:40827705-40827721 chr2:40827710-40827721 chr2:40827710-40827721
36	MAFK	chr2:40811637-40811884	IMR90	lung:	n/a	n/a
37	MAX	chr2:40819400-40819762	H1-hESC	embryonic stem cell:	n/a	chr2:40819522-40819531
38	MAX	chr2:40819310-40819739	H1-hESC	embryonic stem cell:	n/a	chr2:40819522-40819531
39	MXI1	chr2:40819408-40819701	H1-hESC	embryonic stem cell:	n/a	chr2:40819522-40819537
40	MYC	chr2:40842938-40842996	H1-hESC	embryonic stem cell:	n/a	n/a
41	NFYA	chr2:40847808-40847936	GM12878	blood:	n/a	n/a
42	NFYB	chr2:40817431-40817558	Hela-S3	cervix:	n/a	n/a
43	NRF1	chr2:40843410-40843451	GM12878	blood:	n/a	n/a
44	PBX3	chr2:40826306-40826673	SK-N-SH	brain:	n/a	n/a
45	POLR2A	chr2:40817670-40817683	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr2:40816166-40816293	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr2:40826863-40826953	ProgFib	skin:	n/a	n/a
48	POLR2A	chr2:40829009-40829209	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr2:40820181-40820204	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr2:40826716-40826736	ProgFib	skin:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:40845989-40846039	HCF	heart:	n/a
2	chr2:40845989-40846039	NT2-D1	testis:	n/a
3	chr2:40845989-40846039	ovcar-3	ovarian:	n/a
4	chr2:40845989-40846039	SK-N-SH	brain:	n/a
5	chr2:40845989-40846039	BE2_C	brain:	n/a
6	chr2:40845989-40846039	NH-A	brain:	n/a
7	chr2:40845989-40846039	HL-60	blood:	n/a
8	chr2:40845989-40846039	HEEpiC	esophagus:	n/a
9	chr2:40845989-40846039	ProgFib	skin:	n/a
10	chr2:40845989-40846039	PFSK-1	brain:	n/a
11	chr2:40845989-40846039	NHDF-neo	bronchial:	n/a
12	chr2:40845989-40846039	NB4	blood:	n/a
13	chr2:40845989-40846039	AoSMC	blood vessel:	n/a
14	chr2:40845989-40846039	MCF-7	breast:	n/a
15	chr2:40845989-40846039	GM19239	blood:	n/a
16	chr2:40845989-40846039	HAEpiC	amniotic membrane:	n/a
17	chr2:40845989-40846039	GM06990	blood:	n/a
18	chr2:40845989-40846039	CMK	blood:	n/a
19	chr2:40845989-40846039	HCT-116	colon:	n/a
20	chr2:40845989-40846039	HCPEpiC	choroid plexus:	n/a
21	chr2:40845989-40846039	HCM	heart:	n/a
22	chr2:40845989-40846039	PANC-1	pancreas:	n/a
23	chr2:40845989-40846039	Jurkat	blood:	n/a
24	chr2:40845989-40846039	SK-N-MC	brain:	n/a
25	chr2:40845989-40846039	AG10803	skin:	n/a
26	chr2:40845989-40846039	HRCEpiC	kidney:	n/a
27	chr2:40845989-40846039	U87	brain:	n/a
28	chr2:40845989-40846039	Caco-2	colon:	n/a
29	chr2:40845989-40846039	GM12892	blood:	n/a
30	chr2:40845989-40846039	Hela-S3	cervix:	n/a
31	chr2:40845989-40846039	HUVEC	blood vessel:	n/a
32	chr2:40845989-40846039	ECC-1	luminal epithelium:	n/a
33	chr2:40845989-40846039	MCF10A-Er-Src	breast:	n/a
34	chr2:40845989-40846039	K562	blood:	n/a
35	chr2:40845989-40846039	T-47D	breast:	n/a
36	chr2:40845989-40846039	HEK293	kidney:	embryo
37	chr2:40845989-40846039	RPTEC	kidney:	n/a
38	chr2:40845989-40846039	HNPCEpiC	eye:	n/a
39	chr2:40845989-40846039	HIPEpiC	eye:	n/a
40	chr2:40845989-40846039	SKMC	muscle:	n/a
41	chr2:40845989-40846039	GM12878	blood:	n/a
42	chr2:40845989-40846039	AG04450	lung:	fetal
43	chr2:40845989-40846039	HRE	kidney:	n/a
44	chr2:40845989-40846039	IMR90	lung:	fetal
45	chr2:40845989-40846039	LNCaP	prostate:	n/a
46	chr2:40845989-40846039	SAEC	small airway:	n/a
47	chr2:40845989-40846039	SK-N-SH_RA	brain:	n/a
48	chr2:40845989-40846039	Hepatocyte	liver:	n/a
49	chr2:40845989-40846039	HMEC	breast:	n/a
50	chr2:40845989-40846039	BJ	skin:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM178-7	chr2:40835782-40835863	l_1815_chr2:40835264-40838463_testes
2	lnc-TMEM178-7	chr2:40847860-40848096	NONHSAT070282
3	lnc-TMEM178-7	chr2:40838265-40838463	l_1815_chr2:40835264-40838463_testes
4	lnc-TMEM178-7	chr2:40835210-40835273	NONHSAT070282
5	lnc-TMEM178-7	chr2:40827131-40827296	NONHSAT070282
6	lnc-TMEM178-7	chr2:40835782-40835863	NONHSAT070282
7	lnc-TMEM178-7	chr2:40835265-40835273	l_1815_chr2:40835264-40838463_testes

Variant related genes	Relation type
SLC8A1	TF binding region
SLC8A1	CpG island

Extended variants
information (count: 1071 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1071 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201923632	chr2:40810634-40810635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567383968	chr2:40810738-40810739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373771464	chr2:40810773-40810774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534831084	chr2:40810798-40810799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35991827	chr2:40810801-40810802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140413947	chr2:40810835-40810836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150377542	chr2:40810889-40810890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538911781	chr2:40810896-40810897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556943483	chr2:40810948-40810949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575519705	chr2:40810957-40810958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536402486	chr2:40810960-40810961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149461953	chr2:40810967-40810968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191958640	chr2:40810968-40810969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183211272	chr2:40811006-40811007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564874884	chr2:40811008-40811009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576798739	chr2:40811065-40811066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544209826	chr2:40811073-40811074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375401470	chr2:40811088-40811089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187926033	chr2:40811099-40811100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191386230	chr2:40811101-40811102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549157086	chr2:40811120-40811121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs377637584	chr2:40811155-40811156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561194247	chr2:40811162-40811163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528544505	chr2:40811163-40811164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10183264	chr2:40811200-40811201	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs12105826	chr2:40811205-40811206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147162389	chr2:40811272-40811273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73927860	chr2:40811298-40811299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138755742	chr2:40811309-40811310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183961544	chr2:40811310-40811311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10183378	chr2:40811344-40811345	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs569398976	chr2:40811368-40811369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554798751	chr2:40811370-40811371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573102566	chr2:40811382-40811383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570800330	chr2:40811398-40811399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188175979	chr2:40811419-40811420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539790238	chr2:40811424-40811425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558333013	chr2:40811483-40811484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576892390	chr2:40811520-40811521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10183583	chr2:40811524-40811525	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs556165424	chr2:40811542-40811543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373170818	chr2:40811545-40811546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542942216	chr2:40811567-40811568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558524295	chr2:40811577-40811578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561133159	chr2:40811580-40811581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528630538	chr2:40811597-40811598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570309938	chr2:40811599-40811600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114652362	chr2:40811607-40811608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550554421	chr2:40811612-40811613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532646386	chr2:40811621-40811622	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40810600-40811200	Enhancers	Fetal Heart	heart
2	chr2:40811000-40811800	Enhancers	NHEK	skin
3	chr2:40817400-40818600	Enhancers	Fetal Heart	heart
4	chr2:40818600-40819000	Enhancers	Brain Anterior Caudate	brain
5	chr2:40818600-40819400	Active TSS	Fetal Heart	heart
6	chr2:40818800-40819400	Active TSS	Right Atrium	heart
7	chr2:40819000-40819400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr2:40819000-40819400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:40819000-40819400	Enhancers	Fetal Brain Female	brain
10	chr2:40819000-40819600	Active TSS	Brain Germinal Matrix	brain
11	chr2:40819000-40819800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr2:40819000-40819800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr2:40819000-40820200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr2:40819000-40820400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:40819200-40819400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr2:40819200-40819600	Active TSS	Brain Anterior Caudate	brain
17	chr2:40819200-40819600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr2:40819200-40819800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:40819400-40819600	Flanking Active TSS	Fetal Heart	heart
20	chr2:40819400-40820000	Weak transcription	Right Atrium	heart
21	chr2:40819600-40820400	Enhancers	Fetal Heart	heart
22	chr2:40820000-40820200	Bivalent Enhancer	Aorta	Aorta
23	chr2:40820000-40820200	Enhancers	Right Atrium	heart
24	chr2:40820200-40832600	Weak transcription	Right Atrium	heart
25	chr2:40820400-40823200	Weak transcription	Fetal Heart	heart
26	chr2:40823200-40823800	Enhancers	Fetal Heart	heart
27	chr2:40832600-40832800	Enhancers	Right Atrium	heart
28	chr2:40833600-40834000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
29	chr2:40833600-40834800	Enhancers	HMEC	breast
30	chr2:40833800-40834200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:40833800-40834200	Enhancers	NH-A	brain
32	chr2:40833800-40834600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:40833800-40834600	Enhancers	Osteobl	bone
34	chr2:40836200-40836600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr2:40843800-40844400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:40844400-40853000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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