Variant report

Variant	nsv1000561
Chromosome Location	chr2:186450293-186556017
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	ARID3A	chr2:186510210-186510829	HepG2	liver:	n/a	n/a
2	ATF2	chr2:186509544-186509954	GM12878	blood:	n/a	n/a
3	BATF	chr2:186509574-186509959	GM12878	blood:	n/a	n/a
4	BCLAF1	chr2:186509649-186509904	GM12878	blood:	n/a	n/a
5	CBX3	chr2:186554740-186555339	HCT-116	colon:	n/a	n/a
6	CBX3	chr2:186554778-186555281	HCT-116	colon:	n/a	n/a
7	CCNT2	chr2:186508599-186508741	K562	blood:	n/a	n/a
8	CEBPB	chr2:186533482-186533800	HepG2	liver:	n/a	chr2:186533645-186533656
9	CEBPB	chr2:186510221-186510640	HepG2	liver:	n/a	chr2:186510394-186510405
10	CEBPB	chr2:186533506-186533791	A549	lung:	n/a	chr2:186533645-186533656
11	CEBPB	chr2:186510299-186510509	HepG2	liver:	n/a	chr2:186510394-186510405
12	CEBPB	chr2:186510298-186510570	HepG2	liver:	n/a	chr2:186510394-186510405
13	CEBPB	chr2:186535082-186535227	HepG2	liver:	n/a	chr2:186535119-186535130
14	CEBPB	chr2:186530680-186530902	HepG2	liver:	n/a	chr2:186530798-186530809
15	CEBPB	chr2:186478620-186478884	HepG2	liver:	n/a	chr2:186478732-186478743
16	CEBPB	chr2:186523553-186523803	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPB	chr2:186533543-186533809	IMR90	lung:	n/a	chr2:186533645-186533656
18	CEBPB	chr2:186510245-186510608	HepG2	liver:	n/a	chr2:186510394-186510405
19	CEBPB	chr2:186533508-186533786	H1-hESC	embryonic stem cell:	n/a	chr2:186533645-186533656
20	CEBPB	chr2:186465657-186465842	A549	lung:	n/a	n/a
21	CEBPB	chr2:186544754-186544870	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr2:186533467-186533798	Hela-S3	cervix:	n/a	chr2:186533645-186533656
23	CEBPB	chr2:186478710-186478888	A549	lung:	n/a	chr2:186478732-186478743
24	CEBPD	chr2:186510309-186510546	HepG2	liver:	n/a	chr2:186510394-186510405
25	CHD2	chr2:186510399-186510485	HepG2	liver:	n/a	n/a
26	CTCF	chr2:186493920-186494070	MCF-7	breast:	n/a	n/a
27	CTCF	chr2:186494020-186494170	HMEC	breast:	n/a	n/a
28	CTCF	chr2:186493660-186493810	GM12866	blood:	n/a	n/a
29	CTCF	chr2:186473700-186473850	HCPEpiC	choroid plexus:	n/a	n/a
30	CTCF	chr2:186483540-186483690	GM12873	blood:	n/a	n/a
31	CTCF	chr2:186541000-186541150	GM12867	blood:	n/a	n/a
32	CTCF	chr2:186493968-186494104	Medullo	brain:	n/a	n/a
33	CTCF	chr2:186473620-186473770	HPAF	blood vessel:	n/a	chr2:186473696-186473704
34	CTCF	chr2:186493960-186494110	NHEK	skin:	n/a	n/a
35	CTCF	chr2:186493922-186494115	GM10266	blood:	n/a	n/a
36	CTCF	chr2:186541040-186541190	HEEpiC	esophagus:	n/a	n/a
37	CTCF	chr2:186493920-186494070	GM12870	blood:	n/a	n/a
38	CTCF	chr2:186483580-186483730	NHEK	skin:	n/a	n/a
39	CTCF	chr2:186541295-186541321	ProgFib	skin:	n/a	n/a
40	CTCF	chr2:186493896-186494105	MCF-7	breast:	n/a	n/a
41	CTCF	chr2:186493950-186494073	GM19239	blood:	n/a	n/a
42	CTCF	chr2:186493880-186494030	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr2:186483583-186483708	MCF-7	breast:	n/a	n/a
44	CTCF	chr2:186473640-186473790	HRE	kidney:	n/a	chr2:186473696-186473704
45	CTCF	chr2:186493980-186494130	HRE	kidney:	n/a	n/a
46	CTCF	chr2:186493970-186494090	A549	lung:	n/a	n/a
47	CTCF	chr2:186493927-186494106	GM12892	blood:	n/a	n/a
48	CTCF	chr2:186493922-186494088	Pancreas_OC	pancreas:	n/a	n/a
49	CTCF	chr2:186493600-186493750	GM06990	blood:	n/a	n/a
50	CTCF	chr2:186473622-186473830	Gliobla	brain:	n/a	chr2:186473696-186473704

No.	Distal block	Cell Line	Cell type
1	chr2:186473268..186473794-chr2:186603435..186603983,2	MCF-7	breast:
2	chr2:186493592..186494450-chr2:186603275..186603898,3	MCF-7	breast:
3	chr2:186540633..186542551-chr2:186567883..186570534,2	MCF-7	breast:
4	chr2:186492938..186493701-chr2:186603922..186604721,2	MCF-7	breast:
5	chr2:186493563..186494107-chr2:187121512..187122407,2	MCF-7	breast:
6	chr2:186508722..186510476-chr2:186513123..186514706,2	K562	blood:
7	chr2:186532536..186534671-chr2:186536499..186538385,2	K562	blood:
8	chr2:186508722..186510476-chr2:186513123..186514706,2	K562	blood:
9	chr2:186532536..186534671-chr2:186536499..186538385,2	K562	blood:
10	chr16:88876629..88878732-chr2:186490716..186492785,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212581	TF binding region
ENSG00000198931	chromatin interactions
ENSG00000226747	chromatin interactions
ENSG00000188738	chromatin interactions

Extended variants
information (count: 2675 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:2675 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200506113	chr2:186450330-186450331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183522735	chr2:186450338-186450339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570249310	chr2:186450370-186450371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534393526	chr2:186450371-186450372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546622800	chr2:186450377-186450378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186828285	chr2:186450400-186450401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535750365	chr2:186450426-186450427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567486613	chr2:186450437-186450438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556929252	chr2:186450471-186450472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575532408	chr2:186450536-186450537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539608389	chr2:186450538-186450539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372145958	chr2:186450567-186450568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573401222	chr2:186450568-186450569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373603602	chr2:186450607-186450608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs56262358	chr2:186450622-186450623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562151481	chr2:186450632-186450633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375430615	chr2:186450691-186450692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112387257	chr2:186450698-186450699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183367060	chr2:186450724-186450725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544889136	chr2:186450750-186450751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553276175	chr2:186450761-186450762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563009838	chr2:186450762-186450763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533432951	chr2:186450774-186450775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551590487	chr2:186450794-186450795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560312153	chr2:186450816-186450817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186959503	chr2:186450842-186450843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546338272	chr2:186450849-186450850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6717141	chr2:186450933-186450934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201872966	chr2:186450942-186450943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375701176	chr2:186450946-186450947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574386259	chr2:186450949-186450950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550866859	chr2:186450954-186450955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112545575	chr2:186451021-186451022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200393459	chr2:186451077-186451078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539721788	chr2:186451093-186451094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200075688	chr2:186451106-186451107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201265140	chr2:186451113-186451114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558029434	chr2:186451130-186451131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566660581	chr2:186451184-186451185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534307970	chr2:186451281-186451282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372907428	chr2:186451287-186451288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs36177614	chr2:186451365-186451366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs36132097	chr2:186451370-186451371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555529280	chr2:186451392-186451393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34446140	chr2:186451406-186451407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571538266	chr2:186451475-186451476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs137870753	chr2:186451498-186451499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556117924	chr2:186451520-186451521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577966128	chr2:186451538-186451539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146676505	chr2:186451539-186451540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic cancer	17952125	CNVD
Ependymoma	20639864	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186436000-186452200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:186446400-186451600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:186450000-186467200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:186455800-186456600	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr2:186455800-186456600	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr2:186456200-186457200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr2:186463000-186463600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr2:186463000-186464000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr2:186463200-186463400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:186463200-186463800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr2:186463200-186464000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr2:186463200-186464200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr2:186463200-186464200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr2:186464000-186464200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:186467200-186468000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:186468000-186473000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:186473000-186473600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:186473000-186473800	Enhancers	HMEC	breast
19	chr2:186473400-186473800	Enhancers	Fetal Kidney	kidney
20	chr2:186473600-186483400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:186473800-186475000	Weak transcription	HMEC	breast
22	chr2:186475000-186475400	Enhancers	HMEC	breast
23	chr2:186475000-186476200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:186475800-186476000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:186483400-186483800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:186483400-186483800	Enhancers	Fetal Heart	heart
27	chr2:186483400-186484000	Enhancers	HMEC	breast
28	chr2:186483600-186483800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:186483600-186484000	Enhancers	NHEK	skin
30	chr2:186483800-186490400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:186485000-186485400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:186485400-186485800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:186485400-186490600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr2:186485800-186489800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:186487200-186487800	Enhancers	Brain Germinal Matrix	brain
36	chr2:186489800-186490400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:186490400-186490600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:186490600-186490800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr2:186498200-186498600	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr2:186498200-186498800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr2:186498200-186498800	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr2:186498400-186498800	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr2:186498600-186503000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr2:186498800-186502400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr2:186498800-186503000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr2:186502400-186503800	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr2:186502400-186504200	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr2:186502600-186503200	Enhancers	Brain Germinal Matrix	brain
49	chr2:186502600-186503800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:186502800-186503400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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