Variant report

Variant	nsv536088
Chromosome Location	chr2:189542210-189677277
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:791)
CpG islands
(count:245)
Chromatin interactive
region (count:19)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:791 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

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	BHLHE40	chr2:189566769-189566920	GM12878	blood:	n/a	n/a
5	CBX3	chr2:189630221-189630693	HCT-116	colon:	n/a	n/a
6	CBX3	chr2:189641408-189641872	HCT-116	colon:	n/a	n/a
7	CBX3	chr2:189653210-189653805	HCT-116	colon:	n/a	n/a
8	CEBPB	chr2:189566573-189566847	IMR90	lung:	n/a	chr2:189566793-189566805
9	CEBPB	chr2:189637846-189638194	HepG2	liver:	n/a	chr2:189638022-189638033
10	CEBPB	chr2:189543656-189543926	MCF-7	breast:	n/a	n/a
11	CEBPB	chr2:189612671-189613013	HepG2	liver:	n/a	chr2:189612852-189612863
12	CEBPB	chr2:189637831-189638203	Hela-S3	cervix:	n/a	chr2:189638022-189638033
13	CEBPB	chr2:189637812-189638216	IMR90	lung:	n/a	chr2:189638022-189638033
14	CEBPB	chr2:189589286-189589428	IMR90	lung:	n/a	chr2:189589309-189589320
15	CEBPB	chr2:189560700-189561043	IMR90	lung:	n/a	n/a
16	CEBPB	chr2:189590767-189591100	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr2:189637868-189638181	A549	lung:	n/a	chr2:189638022-189638033
18	CEBPB	chr2:189637837-189638181	A549	lung:	n/a	chr2:189638022-189638033
19	CEBPB	chr2:189568694-189568977	A549	lung:	n/a	n/a
20	CEBPB	chr2:189661537-189661770	IMR90	lung:	n/a	chr2:189661661-189661672
21	CEBPB	chr2:189543526-189544054	A549	lung:	n/a	n/a
22	CEBPB	chr2:189625970-189626219	A549	lung:	n/a	chr2:189626164-189626175 chr2:189626074-189626085 chr2:189626073-189626086
23	CEBPB	chr2:189637751-189638117	MCF-7	breast:	n/a	chr2:189638022-189638033
24	CEBPB	chr2:189637983-189638083	K562	blood:	n/a	chr2:189638022-189638033
25	CEBPB	chr2:189589159-189589437	A549	lung:	n/a	chr2:189589309-189589320
26	CEBPB	chr2:189661498-189661816	Hela-S3	cervix:	n/a	chr2:189661661-189661672
27	CEBPB	chr2:189661544-189661829	HepG2	liver:	n/a	chr2:189661661-189661672
28	CEBPB	chr2:189612707-189613018	H1-hESC	embryonic stem cell:	n/a	chr2:189612852-189612863
29	CEBPB	chr2:189625932-189626247	HepG2	liver:	n/a	chr2:189626164-189626175 chr2:189626074-189626085 chr2:189626073-189626086
30	CEBPB	chr2:189631271-189631613	HepG2	liver:	n/a	chr2:189631379-189631390 chr2:189631377-189631388
31	CEBPB	chr2:189543650-189544001	A549	lung:	n/a	n/a
32	CEBPB	chr2:189637737-189638285	A549	lung:	n/a	chr2:189638022-189638033
33	CEBPB	chr2:189612679-189612971	IMR90	lung:	n/a	chr2:189612852-189612863
34	CEBPB	chr2:189637867-189638135	ECC-1	luminal epithelium:	n/a	chr2:189638022-189638033
35	CEBPB	chr2:189625937-189626252	IMR90	lung:	n/a	chr2:189626164-189626175 chr2:189626074-189626085 chr2:189626073-189626086
36	CEBPB	chr2:189676205-189676525	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr2:189653237-189653888	HCT-116	colon:	n/a	n/a
38	CEBPB	chr2:189676172-189676573	IMR90	lung:	n/a	n/a
39	CEBPB	chr2:189574878-189575111	HepG2	liver:	n/a	chr2:189575023-189575034
40	CEBPB	chr2:189543653-189543973	HepG2	liver:	n/a	n/a
41	CEBPB	chr2:189543587-189544065	A549	lung:	n/a	n/a
42	CEBPB	chr2:189589177-189589457	HepG2	liver:	n/a	chr2:189589309-189589320
43	CEBPB	chr2:189641465-189641707	IMR90	lung:	n/a	n/a
44	CEBPB	chr2:189543613-189544058	Hela-S3	cervix:	n/a	n/a
45	CEBPB	chr2:189543601-189544050	IMR90	lung:	n/a	n/a
46	CEBPB	chr2:189653398-189653710	IMR90	lung:	n/a	n/a
47	CEBPB	chr2:189637886-189638188	ECC-1	luminal epithelium:	n/a	chr2:189638022-189638033
48	CEBPB	chr2:189631279-189631634	A549	lung:	n/a	chr2:189631379-189631390 chr2:189631377-189631388
49	CEBPB	chr2:189612666-189613022	A549	lung:	n/a	chr2:189612852-189612863
50	CEBPB	chr2:189631243-189631586	IMR90	lung:	n/a	chr2:189631379-189631390 chr2:189631377-189631388

(count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:189600758-189600808	K562	blood:	n/a
2	chr2:189600758-189600808	K562	blood:	n/a
3	chr2:189600758-189600808	Hela-S3	cervix:	n/a
4	chr2:189600758-189600808	H1-hESC	embryonic stem cell:	embryo
5	chr2:189599296-189599346	GM19239	blood:	n/a
6	chr2:189558080-189558130	HRE	kidney:	n/a
7	chr2:189558080-189558130	GM12878	blood:	n/a
8	chr2:189599665-189599715	HEEpiC	esophagus:	n/a
9	chr2:189558080-189558130	AG09319	gingival:	n/a
10	chr2:189599296-189599346	HRCEpiC	kidney:	n/a
11	chr2:189558080-189558130	Jurkat	blood:	n/a
12	chr2:189599665-189599715	PrEC	prostate:	n/a
13	chr2:189558080-189558130	HUVEC	blood vessel:	n/a
14	chr2:189600758-189600808	HepG2	liver:	n/a
15	chr2:189600758-189600808	HIPEpiC	eye:	n/a
16	chr2:189600758-189600808	GM06990	blood:	n/a
17	chr2:189599296-189599346	T-47D	breast:	n/a
18	chr2:189558080-189558130	AoSMC	blood vessel:	n/a
19	chr2:189600758-189600808	SKMC	muscle:	n/a
20	chr2:189600758-189600808	NT2-D1	testis:	n/a
21	chr2:189599665-189599715	Hepatocyte	liver:	n/a
22	chr2:189600758-189600808	A549	lung:	n/a
23	chr2:189599665-189599715	BJ	skin:	n/a
24	chr2:189600758-189600808	GM19239	blood:	n/a
25	chr2:189599665-189599715	NHBE	bronchial:	n/a
26	chr2:189558080-189558130	HEEpiC	esophagus:	n/a
27	chr2:189599665-189599715	SKMC	muscle:	n/a
28	chr2:189600758-189600808	ovcar-3	ovarian:	n/a
29	chr2:189558080-189558130	MCF-7	breast:	n/a
30	chr2:189558080-189558130	SKMC	muscle:	n/a
31	chr2:189599665-189599715	LNCaP	prostate:	n/a
32	chr2:189600758-189600808	Hepatocyte	liver:	n/a
33	chr2:189599665-189599715	HRE	kidney:	n/a
34	chr2:189599665-189599715	Caco-2	colon:	n/a
35	chr2:189600758-189600808	PrEC	prostate:	n/a
36	chr2:189558080-189558130	HEK293	kidney:	embryo
37	chr2:189600758-189600808	AG04449	skin:	fetal
38	chr2:189599665-189599715	Hela-S3	cervix:	n/a
39	chr2:189599296-189599346	PANC-1	pancreas:	n/a
40	chr2:189599296-189599346	H1-hESC	embryonic stem cell:	embryo
41	chr2:189599296-189599346	AG04449	skin:	fetal
42	chr2:189600758-189600808	SAEC	small airway:	n/a
43	chr2:189599296-189599346	HPAEpiC	pulmonary alveolar:	n/a
44	chr2:189558080-189558130	HL-60	blood:	n/a
45	chr2:189599665-189599715	SK-N-SH_RA	brain:	n/a
46	chr2:189599296-189599346	PrEC	prostate:	n/a
47	chr2:189599296-189599346	RPTEC	kidney:	n/a
48	chr2:189599665-189599715	HPAEpiC	pulmonary alveolar:	n/a
49	chr2:189558080-189558130	PANC-1	pancreas:	n/a
50	chr2:189599296-189599346	HepG2	liver:	n/a

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:189584779..189586536-chr2:189588421..189590765,2	K562	blood:
2	chr2:189629997..189630580-chr2:189842746..189843377,2	MCF-7	breast:
3	chr2:189469024..189471613-chr2:189556125..189558858,2	MCF-7	breast:
4	chr2:189469220..189472304-chr2:189586232..189590272,3	MCF-7	breast:
5	chr2:189633018..189633518-chr6:129939735..129940265,2	MCF-7	breast:
6	chr2:189595413..189597122-chr2:189598566..189601054,2	MCF-7	breast:
7	chr2:189583743..189586666-chr2:189589000..189591672,2	MCF-7	breast:
8	chr2:189630030..189631002-chr2:189840905..189842141,9	MCF-7	breast:
9	chr2:189553470..189554187-chr6:29381441..29382421,2	MCF-7	breast:
10	chr2:189560390..189562782-chr2:189566828..189569265,2	K562	blood:
11	chr2:189470555..189473256-chr2:189645948..189648747,2	MCF-7	breast:
12	chr2:189583743..189586666-chr2:189589000..189591672,2	MCF-7	breast:
13	chr2:189595413..189597122-chr2:189598566..189601054,2	MCF-7	breast:
14	chr2:189470137..189473271-chr2:189629493..189632032,3	MCF-7	breast:
15	chr2:189584779..189586536-chr2:189588421..189590765,2	K562	blood:
16	chr2:189469579..189472035-chr2:189650010..189652348,2	MCF-7	breast:
17	chr2:189652355..189655667-chr2:189836980..189839231,3	MCF-7	breast:
18	chr2:189629984..189631020-chr2:189842710..189843643,5	MCF-7	breast:
19	chr2:189560390..189562782-chr2:189566828..189569265,2	K562	blood:

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

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

No data

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

Extended variants
information (count: 3639 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:3639 , 50 per page) page: 1 2 3 4 5 6 7 ... 73

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553328745	chr2:189542244-189542245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs74452615	chr2:189542248-189542249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535305601	chr2:189542256-189542257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184997129	chr2:189542272-189542273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs34170526	chr2:189542317-189542318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373426344	chr2:189542414-189542415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560845462	chr2:189542431-189542432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576461948	chr2:189542441-189542442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528412988	chr2:189542464-189542465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147643236	chr2:189542528-189542529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142310148	chr2:189542574-189542575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188230268	chr2:189542588-189542589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114422046	chr2:189542594-189542595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559814200	chr2:189542760-189542761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574950270	chr2:189542778-189542779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542063141	chr2:189542809-189542810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374455634	chr2:189542900-189542901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563357516	chr2:189542933-189542934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201179756	chr2:189542961-189542962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530511734	chr2:189543014-189543015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552345967	chr2:189543026-189543027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181046990	chr2:189543054-189543055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546754818	chr2:189543071-189543072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546882687	chr2:189543073-189543074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs146145168	chr2:189543135-189543136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185321367	chr2:189543137-189543138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550510430	chr2:189543157-189543158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200190789	chr2:189543191-189543192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs698552	chr2:189543242-189543243	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs574447022	chr2:189543261-189543262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs148254037	chr2:189543264-189543265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558661412	chr2:189543283-189543284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370846650	chr2:189543318-189543319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576795586	chr2:189543327-189543328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534721675	chr2:189543420-189543421	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551062440	chr2:189543427-189543428	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140280004	chr2:189543447-189543448	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190867169	chr2:189543454-189543455	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542547799	chr2:189543463-189543464	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1395868	chr2:189543514-189543515	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs575934867	chr2:189543519-189543520	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76626805	chr2:189543618-189543619	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373980907	chr2:189543739-189543740	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79377550	chr2:189543748-189543749	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564185429	chr2:189543789-189543790	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376785659	chr2:189543800-189543801	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528063902	chr2:189543806-189543807	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs10209259	chr2:189543905-189543906	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs150435217	chr2:189543966-189543967	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527990399	chr2:189543995-189543996	Flanking Active TSS Weak transcription Enhancers	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
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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:459 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189539400-189542400	Enhancers	HSMM	muscle
2	chr2:189539600-189543400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:189540000-189542400	Enhancers	Osteobl	bone
4	chr2:189540800-189542400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr2:189541200-189545000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:189541600-189543400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:189542400-189543400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:189542400-189543400	Weak transcription	Osteobl	bone
9	chr2:189543400-189543800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:189543400-189544000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:189543400-189544200	Enhancers	Osteobl	bone
12	chr2:189543600-189543800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr2:189544000-189545000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:189545000-189545200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:189547200-189547600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr2:189549400-189549600	Enhancers	NHDF-Ad	bronchial
17	chr2:189551000-189557200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr2:189555200-189555400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:189555400-189560600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:189556800-189558800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:189557000-189559000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr2:189557200-189557400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr2:189557200-189558200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr2:189557200-189558600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr2:189557200-189559000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr2:189557400-189557800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr2:189557400-189558600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr2:189557600-189558200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:189557600-189558600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr2:189557600-189558600	Enhancers	Placenta Amnion	Placenta Amnion
31	chr2:189557600-189558600	Enhancers	NHEK	skin
32	chr2:189557600-189558800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:189557600-189558800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr2:189557600-189558800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:189557800-189558400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr2:189557800-189558400	Enhancers	HMEC	breast
37	chr2:189557800-189558600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:189557800-189558800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr2:189557800-189558800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr2:189557800-189558800	Enhancers	H9 Cell Line	embryonic stem cell
41	chr2:189557800-189558800	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr2:189557800-189558800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:189558400-189560600	Weak transcription	HMEC	breast
44	chr2:189558800-189560400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:189559600-189560400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:189559600-189560800	Enhancers	Dnd41	blood
47	chr2:189560200-189561400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:189560200-189561400	Enhancers	HSMM	muscle
49	chr2:189560200-189561400	Enhancers	Osteobl	bone
50	chr2:189560400-189560800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links