Variant report

Variant	nsv875606
Chromosome Location	chr2:189579045-189688463
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	BACH1	chr2:189672349-189672457	H1-hESC	embryonic stem cell:	n/a	n/a
2	BATF	chr2:189630391-189630596	GM12878	blood:	n/a	n/a
3	BATF	chr2:189630344-189630653	GM12878	blood:	n/a	n/a
4	CBX3	chr2:189653210-189653805	HCT-116	colon:	n/a	n/a
5	CBX3	chr2:189641408-189641872	HCT-116	colon:	n/a	n/a
6	CBX3	chr2:189630221-189630693	HCT-116	colon:	n/a	n/a
7	CEBPB	chr2:189641465-189641707	IMR90	lung:	n/a	n/a
8	CEBPB	chr2:189653398-189653710	IMR90	lung:	n/a	n/a
9	CEBPB	chr2:189631271-189631613	HepG2	liver:	n/a	chr2:189631379-189631390 chr2:189631377-189631388
10	CEBPB	chr2:189682429-189682642	HepG2	liver:	n/a	chr2:189682505-189682516
11	CEBPB	chr2:189589159-189589437	A549	lung:	n/a	chr2:189589309-189589320
12	CEBPB	chr2:189676172-189676573	IMR90	lung:	n/a	n/a
13	CEBPB	chr2:189637831-189638203	Hela-S3	cervix:	n/a	chr2:189638022-189638033
14	CEBPB	chr2:189676205-189676525	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr2:189612679-189612971	IMR90	lung:	n/a	chr2:189612852-189612863
16	CEBPB	chr2:189637846-189638194	HepG2	liver:	n/a	chr2:189638022-189638033
17	CEBPB	chr2:189637751-189638117	MCF-7	breast:	n/a	chr2:189638022-189638033
18	CEBPB	chr2:189625970-189626219	A549	lung:	n/a	chr2:189626164-189626175 chr2:189626074-189626085 chr2:189626073-189626086
19	CEBPB	chr2:189637837-189638181	A549	lung:	n/a	chr2:189638022-189638033
20	CEBPB	chr2:189637867-189638135	ECC-1	luminal epithelium:	n/a	chr2:189638022-189638033
21	CEBPB	chr2:189661501-189661799	A549	lung:	n/a	chr2:189661661-189661672
22	CEBPB	chr2:189590767-189591100	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr2:189637812-189638216	IMR90	lung:	n/a	chr2:189638022-189638033
24	CEBPB	chr2:189612671-189613013	HepG2	liver:	n/a	chr2:189612852-189612863
25	CEBPB	chr2:189661537-189661770	IMR90	lung:	n/a	chr2:189661661-189661672
26	CEBPB	chr2:189661544-189661829	HepG2	liver:	n/a	chr2:189661661-189661672
27	CEBPB	chr2:189637868-189638181	A549	lung:	n/a	chr2:189638022-189638033
28	CEBPB	chr2:189653237-189653888	HCT-116	colon:	n/a	n/a
29	CEBPB	chr2:189684619-189684958	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr2:189637983-189638083	K562	blood:	n/a	chr2:189638022-189638033
31	CEBPB	chr2:189676246-189676499	A549	lung:	n/a	n/a
32	CEBPB	chr2:189589177-189589457	HepG2	liver:	n/a	chr2:189589309-189589320
33	CEBPB	chr2:189625937-189626252	IMR90	lung:	n/a	chr2:189626164-189626175 chr2:189626074-189626085 chr2:189626073-189626086
34	CEBPB	chr2:189637737-189638285	A549	lung:	n/a	chr2:189638022-189638033
35	CEBPB	chr2:189631243-189631586	IMR90	lung:	n/a	chr2:189631379-189631390 chr2:189631377-189631388
36	CEBPB	chr2:189661498-189661816	Hela-S3	cervix:	n/a	chr2:189661661-189661672
37	CEBPB	chr2:189612666-189613022	A549	lung:	n/a	chr2:189612852-189612863
38	CEBPB	chr2:189625932-189626247	HepG2	liver:	n/a	chr2:189626164-189626175 chr2:189626074-189626085 chr2:189626073-189626086
39	CEBPB	chr2:189612707-189613018	H1-hESC	embryonic stem cell:	n/a	chr2:189612852-189612863
40	CEBPB	chr2:189637886-189638188	ECC-1	luminal epithelium:	n/a	chr2:189638022-189638033
41	CEBPB	chr2:189589286-189589428	IMR90	lung:	n/a	chr2:189589309-189589320
42	CEBPB	chr2:189631279-189631634	A549	lung:	n/a	chr2:189631379-189631390 chr2:189631377-189631388
43	CEBPB	chr2:189637786-189638289	MCF-7	breast:	n/a	chr2:189638022-189638033
44	CTCF	chr2:189649940-189650090	HCFaa	heart:	n/a	n/a
45	CTCF	chr2:189630381-189630477	Pancreas_OC	pancreas:	n/a	n/a
46	CTCF	chr2:189630384-189630495	Kidney_OC	kidney:	n/a	n/a
47	CTCF	chr2:189649180-189649330	HCPEpiC	choroid plexus:	n/a	n/a
48	CTCF	chr2:189630400-189630550	HCT-116	colon:	n/a	n/a
49	CTCF	chr2:189630354-189630486	GM10266	blood:	n/a	n/a
50	CTCF	chr2:189649220-189649370	MCF-7	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:189600758-189600808	PFSK-1	brain:	n/a
2	chr2:189600758-189600808	PFSK-1	brain:	n/a
3	chr2:189600758-189600808	Jurkat	blood:	n/a
4	chr2:189599296-189599346	NT2-D1	testis:	n/a
5	chr2:189599665-189599715	HIPEpiC	eye:	n/a
6	chr2:189599665-189599715	HCPEpiC	choroid plexus:	n/a
7	chr2:189599296-189599346	HRPEpiC	eye:	n/a
8	chr2:189599665-189599715	HUVEC	blood vessel:	n/a
9	chr2:189599665-189599715	GM12891	blood:	n/a
10	chr2:189600758-189600808	AG04450	lung:	fetal
11	chr2:189599665-189599715	PANC-1	pancreas:	n/a
12	chr2:189600758-189600808	HNPCEpiC	eye:	n/a
13	chr2:189600758-189600808	Caco-2	colon:	n/a
14	chr2:189600758-189600808	AG09319	gingival:	n/a
15	chr2:189599665-189599715	Caco-2	colon:	n/a
16	chr2:189599665-189599715	HEK293	kidney:	embryo
17	chr2:189599665-189599715	ovcar-3	ovarian:	n/a
18	chr2:189599296-189599346	SK-N-SH	brain:	n/a
19	chr2:189599296-189599346	HMEC	breast:	n/a
20	chr2:189600758-189600808	GM12878	blood:	n/a
21	chr2:189599665-189599715	HepG2	liver:	n/a
22	chr2:189599665-189599715	CMK	blood:	n/a
23	chr2:189600758-189600808	NHBE	bronchial:	n/a
24	chr2:189599665-189599715	PrEC	prostate:	n/a
25	chr2:189599296-189599346	PANC-1	pancreas:	n/a
26	chr2:189599665-189599715	AG04449	skin:	fetal
27	chr2:189599296-189599346	NH-A	brain:	n/a
28	chr2:189599665-189599715	ProgFib	skin:	n/a
29	chr2:189599296-189599346	HL-60	blood:	n/a
30	chr2:189600758-189600808	SKMC	muscle:	n/a
31	chr2:189599296-189599346	HEK293	kidney:	embryo
32	chr2:189599296-189599346	GM19239	blood:	n/a
33	chr2:189599296-189599346	HUVEC	blood vessel:	n/a
34	chr2:189600758-189600808	BJ	skin:	n/a
35	chr2:189599665-189599715	HNPCEpiC	eye:	n/a
36	chr2:189600758-189600808	SK-N-SH	brain:	n/a
37	chr2:189599296-189599346	Jurkat	blood:	n/a
38	chr2:189600758-189600808	AG10803	skin:	n/a
39	chr2:189599296-189599346	HCPEpiC	choroid plexus:	n/a
40	chr2:189599296-189599346	HCF	heart:	n/a
41	chr2:189599296-189599346	ECC-1	luminal epithelium:	n/a
42	chr2:189599665-189599715	HCF	heart:	n/a
43	chr2:189599665-189599715	AG09319	gingival:	n/a
44	chr2:189599296-189599346	ProgFib	skin:	n/a
45	chr2:189600758-189600808	HL-60	blood:	n/a
46	chr2:189599665-189599715	HRE	kidney:	n/a
47	chr2:189599665-189599715	HCT-116	colon:	n/a
48	chr2:189599665-189599715	HCM	heart:	n/a
49	chr2:189600758-189600808	HCPEpiC	choroid plexus:	n/a
50	chr2:189599665-189599715	HAEpiC	amniotic membrane:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:189630030..189631002-chr2:189840905..189842141,9	MCF-7	breast:
2	chr2:189595413..189597122-chr2:189598566..189601054,2	MCF-7	breast:
3	chr2:189583743..189586666-chr2:189589000..189591672,2	MCF-7	breast:
4	chr2:189584779..189586536-chr2:189588421..189590765,2	K562	blood:
5	chr2:189470137..189473271-chr2:189629493..189632032,3	MCF-7	breast:
6	chr2:189652355..189655667-chr2:189836980..189839231,3	MCF-7	breast:
7	chr2:189629997..189630580-chr2:189842746..189843377,2	MCF-7	breast:
8	chr2:189469220..189472304-chr2:189586232..189590272,3	MCF-7	breast:
9	chr2:189469579..189472035-chr2:189650010..189652348,2	MCF-7	breast:
10	chr2:189595413..189597122-chr2:189598566..189601054,2	MCF-7	breast:
11	chr2:189470555..189473256-chr2:189645948..189648747,2	MCF-7	breast:
12	chr2:189629984..189631020-chr2:189842710..189843643,5	MCF-7	breast:
13	chr2:189583743..189586666-chr2:189589000..189591672,2	MCF-7	breast:
14	chr2:189633018..189633518-chr6:129939735..129940265,2	MCF-7	breast:
15	chr2:189687191..189689520-chr2:190071086..190073047,2	K562	blood:
16	chr2:189584779..189586536-chr2:189588421..189590765,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DIRC1-1	chr2:189611151-189611208	ENSG00000223523.1

Variant related genes	Relation type
DIRC1	TF binding region
DIRC1	CpG island
ENSG00000168542	chromatin interactions
ENSG00000221502	chromatin interactions

Extended variants
information (count: 3156 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:3156 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs60505235	chr2:189582625-189582626	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs34287811	chr2:189582662-189582663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs201624286	chr2:189582681-189582682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146905588	chr2:189582683-189582684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551604147	chr2:189582720-189582721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189844820	chr2:189582736-189582737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527660720	chr2:189582758-189582759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146697644	chr2:189582817-189582818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556531829	chr2:189582819-189582820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183832733	chr2:189582825-189582826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35165649	chr2:189582827-189582828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs67145642	chr2:189582828-189582829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140310243	chr2:189582840-189582841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538160708	chr2:189582865-189582866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556672760	chr2:189582873-189582874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571771207	chr2:189583010-189583011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538694092	chr2:189583027-189583028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78666782	chr2:189583038-189583039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572133661	chr2:189583039-189583040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs7574550	chr2:189583062-189583063	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs199675189	chr2:189583130-189583131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6724340	chr2:189583215-189583216	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs112741322	chr2:189583234-189583235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371433495	chr2:189583250-189583251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs28448381	chr2:189583269-189583270	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs532220494	chr2:189583277-189583278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs150940511	chr2:189583321-189583322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189250510	chr2:189583322-189583323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560358682	chr2:189583336-189583337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527824179	chr2:189583353-189583354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565964070	chr2:189583368-189583369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553715998	chr2:189583376-189583377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572185438	chr2:189583377-189583378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531858388	chr2:189583390-189583391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs13008434	chr2:189583418-189583419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571943750	chr2:189583429-189583430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs4667241	chr2:189583463-189583464	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs569827212	chr2:189583486-189583487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs150173170	chr2:189583487-189583488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575987099	chr2:189583515-189583516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536362262	chr2:189583521-189583522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543456289	chr2:189583532-189583533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554557162	chr2:189583538-189583539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs10211163	chr2:189583540-189583541	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs193100643	chr2:189583542-189583543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558553842	chr2:189583600-189583601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574293894	chr2:189583696-189583697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577092344	chr2:189583702-189583703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540862264	chr2:189583707-189583708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559512108	chr2:189583711-189583712	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
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
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Colorectal cancer	16912164	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:425 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189582600-189585200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:189583400-189585000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:189584000-189584200	Enhancers	Adipose Nuclei	Adipose
4	chr2:189584000-189584200	Enhancers	Fetal Stomach	stomach
5	chr2:189584600-189585200	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr2:189584600-189585200	Enhancers	Fetal Lung	lung
7	chr2:189585000-189590800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:189585200-189585600	Weak transcription	Fetal Lung	lung
9	chr2:189585200-189586200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr2:189585200-189591200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:189585600-189586200	Enhancers	Colon Smooth Muscle	Colon
12	chr2:189585600-189586400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:189585600-189588000	Enhancers	Fetal Lung	lung
14	chr2:189585800-189586200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:189585800-189586400	Enhancers	NHDF-Ad	bronchial
16	chr2:189586000-189586400	Enhancers	Adipose Nuclei	Adipose
17	chr2:189586200-189587400	Enhancers	Fetal Stomach	stomach
18	chr2:189586400-189591200	Weak transcription	NHDF-Ad	bronchial
19	chr2:189586400-189591400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:189586800-189587000	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr2:189588000-189592800	Weak transcription	Fetal Lung	lung
22	chr2:189589600-189590800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr2:189590200-189590800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr2:189590200-189591000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr2:189590200-189592800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:189590400-189593000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:189590600-189591600	Enhancers	HSMM	muscle
28	chr2:189590600-189592400	Enhancers	NH-A	brain
29	chr2:189590800-189591400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr2:189590800-189592200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:189590800-189592400	Enhancers	NHEK	skin
32	chr2:189591200-189591800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:189591200-189591800	Enhancers	NHDF-Ad	bronchial
34	chr2:189591200-189592200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:189591200-189592400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:189591200-189592400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:189591400-189592000	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr2:189591400-189592800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:189591600-189592400	Enhancers	HSMMtube	muscle
40	chr2:189591800-189592200	Enhancers	HMEC	breast
41	chr2:189592800-189593000	Enhancers	Fetal Lung	lung
42	chr2:189593000-189593600	Weak transcription	Fetal Lung	lung
43	chr2:189593800-189594000	Enhancers	Fetal Lung	lung
44	chr2:189598800-189599800	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr2:189598800-189599800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:189599200-189599600	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr2:189599200-189599600	Enhancers	Fetal Stomach	stomach
48	chr2:189599200-189599600	Enhancers	Dnd41	blood
49	chr2:189599200-189599800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:189599200-189599800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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