Variant report

Variant	nsv678
Chromosome Location	chr12:39465797-39489396
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:43)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:43 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr12:39475718-39476078	GM12878	blood:	n/a	n/a
2	BHLHE40	chr12:39475682-39476110	GM12878	blood:	n/a	n/a
3	CEBPB	chr12:39466514-39466779	Hela-S3	cervix:	n/a	chr12:39466655-39466666
4	CEBPB	chr12:39466476-39466840	HepG2	liver:	n/a	chr12:39466655-39466666
5	CEBPB	chr12:39466505-39466815	K562	blood:	n/a	chr12:39466655-39466666
6	CEBPB	chr12:39466479-39466847	A549	lung:	n/a	chr12:39466655-39466666
7	CEBPB	chr12:39466513-39466799	H1-hESC	embryonic stem cell:	n/a	chr12:39466655-39466666
8	CEBPB	chr12:39474919-39475135	HepG2	liver:	n/a	chr12:39474997-39475008
9	CEBPB	chr12:39466485-39466846	IMR90	lung:	n/a	chr12:39466655-39466666
10	CHD2	chr12:39475602-39476061	GM12878	blood:	n/a	n/a
11	CUX1	chr12:39475602-39475743	GM12878	blood:	n/a	n/a
12	E2F4	chr12:39467085-39467140	MCF10A-Er-Src	breast:	n/a	n/a
13	E2F4	chr12:39481405-39481583	MCF10A-Er-Src	breast:	n/a	n/a
14	EBF1	chr12:39475622-39476114	GM12878	blood:	n/a	n/a
15	EBF1	chr12:39472456-39472611	GM12878	blood:	n/a	chr12:39472489-39472500
16	EP300	chr12:39475655-39476160	GM12878	blood:	n/a	n/a
17	EP300	chr12:39475589-39476174	GM12878	blood:	n/a	n/a
18	EP300	chr12:39475688-39476089	GM12878	blood:	n/a	n/a
19	FOS	chr12:39475244-39475362	MCF10A-Er-Src	breast:	n/a	n/a
20	GATA2	chr12:39471092-39471373	SH-SY5Y	brain:	n/a	n/a
21	GATA3	chr12:39471066-39471339	SH-SY5Y	brain:	n/a	n/a
22	MAFK	chr12:39474110-39474188	HepG2	liver:	n/a	n/a
23	MAX	chr12:39489234-39489434	NB4	blood:	n/a	n/a
24	MYC	chr12:39480812-39480947	MCF10A-Er-Src	breast:	n/a	n/a
25	MYC	chr12:39472228-39472258	H1-hESC	embryonic stem cell:	n/a	n/a
26	MYC	chr12:39469022-39469063	NB4	blood:	n/a	n/a
27	MYC	chr12:39486215-39486341	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr12:39470428-39470797	H1-neurons	neurons:	n/a	n/a
29	POLR2A	chr12:39469153-39469183	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr12:39480388-39480478	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr12:39477207-39477335	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr12:39466851-39466909	MCF10A-Er-Src	breast:	n/a	n/a
33	RCOR1	chr12:39475778-39476131	GM12878	blood:	n/a	n/a
34	RFX5	chr12:39470393-39471609	SK-N-SH	brain:	n/a	n/a
35	RFX5	chr12:39473970-39474155	GM12878	blood:	n/a	n/a
36	RFX5	chr12:39470651-39470657	Hela-S3	cervix:	n/a	n/a
37	STAT3	chr12:39475920-39476099	MCF10A-Er-Src	breast:	n/a	n/a
38	STAT3	chr12:39482816-39482840	MCF10A-Er-Src	breast:	n/a	n/a
39	STAT3	chr12:39477769-39477936	MCF10A-Er-Src	breast:	n/a	n/a
40	STAT3	chr12:39465545-39465893	MCF10A-Er-Src	breast:	n/a	n/a
41	STAT3	chr12:39486192-39486193	MCF10A-Er-Src	breast:	n/a	n/a
42	WRNIP1	chr12:39475927-39475980	GM12878	blood:	n/a	n/a
43	WRNIP1	chr12:39468938-39468998	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:39484603-39484653	HPAEpiC	pulmonary alveolar:	n/a
2	chr12:39484603-39484653	GM12878	blood:	n/a
3	chr12:39484603-39484653	HCPEpiC	choroid plexus:	n/a
4	chr12:39484603-39484653	AG09319	gingival:	n/a
5	chr12:39484603-39484653	SK-N-SH_RA	brain:	n/a
6	chr12:39484603-39484653	ovcar-3	ovarian:	n/a
7	chr12:39484603-39484653	GM19239	blood:	n/a
8	chr12:39484603-39484653	HL-60	blood:	n/a
9	chr12:39484603-39484653	IMR90	lung:	fetal
10	chr12:39484603-39484653	HUVEC	blood vessel:	n/a
11	chr12:39484603-39484653	SAEC	small airway:	n/a
12	chr12:39484603-39484653	HIPEpiC	eye:	n/a
13	chr12:39484603-39484653	HepG2	liver:	n/a
14	chr12:39484603-39484653	SK-N-MC	brain:	n/a
15	chr12:39484603-39484653	HAEpiC	amniotic membrane:	n/a
16	chr12:39484603-39484653	AG09309	skin:	n/a
17	chr12:39484603-39484653	SK-N-SH	brain:	n/a
18	chr12:39484603-39484653	HEEpiC	esophagus:	n/a
19	chr12:39484603-39484653	HCM	heart:	n/a
20	chr12:39484603-39484653	K562	blood:	n/a
21	chr12:39484603-39484653	Jurkat	blood:	n/a
22	chr12:39484603-39484653	ProgFib	skin:	n/a
23	chr12:39484603-39484653	BJ	skin:	n/a
24	chr12:39484603-39484653	NT2-D1	testis:	n/a
25	chr12:39484603-39484653	A549	lung:	n/a
26	chr12:39484603-39484653	Hela-S3	cervix:	n/a
27	chr12:39484603-39484653	AG04450	lung:	fetal
28	chr12:39484603-39484653	Caco-2	colon:	n/a
29	chr12:39484603-39484653	U87	brain:	n/a
30	chr12:39484603-39484653	HMEC	breast:	n/a
31	chr12:39484603-39484653	PFSK-1	brain:	n/a
32	chr12:39484603-39484653	AG10803	skin:	n/a
33	chr12:39484603-39484653	GM12891	blood:	n/a
34	chr12:39484603-39484653	HEK293	kidney:	embryo
35	chr12:39484603-39484653	H1-hESC	embryonic stem cell:	embryo
36	chr12:39484603-39484653	ECC-1	luminal epithelium:	n/a
37	chr12:39484603-39484653	HCF	heart:	n/a
38	chr12:39484603-39484653	MCF10A-Er-Src	breast:	n/a
39	chr12:39484603-39484653	PANC-1	pancreas:	n/a
40	chr12:39484603-39484653	CMK	blood:	n/a
41	chr12:39484603-39484653	LNCaP	prostate:	n/a
42	chr12:39484603-39484653	GM06990	blood:	n/a
43	chr12:39484603-39484653	NHBE	bronchial:	n/a
44	chr12:39484603-39484653	HNPCEpiC	eye:	n/a
45	chr12:39484603-39484653	Hepatocyte	liver:	n/a
46	chr12:39484603-39484653	HCT-116	colon:	n/a
47	chr12:39484603-39484653	NHDF-neo	bronchial:	n/a
48	chr12:39484603-39484653	HRE	kidney:	n/a
49	chr12:39484603-39484653	BE2_C	brain:	n/a
50	chr12:39484603-39484653	GM12892	blood:	n/a

No data

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CPNE8-2	chr12:39481529-39481794	XLOC_010051
2	lnc-CPNE8-2	chr12:39486268-39486484	ENSG00000258144
3	lnc-CPNE8-2	chr12:39486628-39486676	ENSG00000258144
4	lnc-CPNE8-2	chr12:39486268-39486291	XLOC_010051
5	lnc-CPNE8-2	chr12:39481515-39481794	ENSG00000258144

No data

Variant related genes	Relation type
ENSG00000258144	TF binding region
ENSG00000258144	CpG island
BCL11B	miRNA target sites

Extended variants
information (count: 400 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:400 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146137226	chr12:39469303-39469304	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs148764711	chr12:39469315-39469316	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs577550659	chr12:39469320-39469321	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs530680428	chr12:39469333-39469334	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs7955996	chr12:39469394-39469395	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs553621872	chr12:39469446-39469447	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs372196817	chr12:39469472-39469473	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs542417045	chr12:39469502-39469503	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs376778103	chr12:39469549-39469550	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs34337444	chr12:39469570-39469571	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs142370033	chr12:39469624-39469625	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs567301197	chr12:39469643-39469644	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs113919150	chr12:39469645-39469646	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs77322500	chr12:39469648-39469649	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs80303790	chr12:39469649-39469650	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs75973308	chr12:39469652-39469653	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs564856617	chr12:39469656-39469657	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs527252471	chr12:39469669-39469670	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs547323115	chr12:39469689-39469690	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs567131703	chr12:39469761-39469762	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs182961433	chr12:39469792-39469793	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs114235640	chr12:39469795-39469796	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs558764982	chr12:39471200-39471201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547760545	chr12:39471205-39471206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569357510	chr12:39471222-39471223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138927695	chr12:39471223-39471224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552607037	chr12:39471291-39471292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534723312	chr12:39471305-39471306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114841320	chr12:39471371-39471372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574352993	chr12:39471373-39471374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1868568	chr12:39471374-39471375	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs189083290	chr12:39471380-39471381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568552169	chr12:39471647-39471648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535982787	chr12:39471665-39471666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs2388173	chr12:39471707-39471708	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs184242792	chr12:39471733-39471734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs12366409	chr12:39471761-39471762	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs530016856	chr12:39471762-39471763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550005733	chr12:39471783-39471784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554375715	chr12:39471786-39471787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568138755	chr12:39471795-39471796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs116793266	chr12:39471800-39471801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10161060	chr12:39475622-39475623	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs189592279	chr12:39475672-39475673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs138268521	chr12:39475727-39475728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571240847	chr12:39475736-39475737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs113519655	chr12:39475754-39475755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554006533	chr12:39475825-39475826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs143927684	chr12:39475827-39475828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs10161061	chr12:39475829-39475830	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39469200-39469800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr12:39471200-39471400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:39471600-39471800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:39475600-39476000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr12:39475600-39476000	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr12:39476000-39477800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:39477800-39478000	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr12:39483200-39486200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr12:39483400-39483600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:39483400-39485400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr12:39483600-39483800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr12:39483600-39483800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:39483600-39483800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr12:39483800-39484000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:39483800-39484600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr12:39484600-39485400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:39484600-39486000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr12:39484600-39486400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr12:39484800-39485400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr12:39484800-39485800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr12:39485400-39485600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr12:39485400-39485600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr12:39485400-39485800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr12:39485400-39485800	Enhancers	H9 Cell Line	embryonic stem cell
25	chr12:39485400-39486000	Enhancers	H1 Cell Line	embryonic stem cell
26	chr12:39485400-39486200	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr12:39485600-39486000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr12:39485600-39486200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr12:39485800-39489600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr12:39486000-39489400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr12:39486200-39486800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr12:39486800-39487000	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr12:39487200-39487400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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