Variant report

Variant	nsv522454
Chromosome Location	chr5:52492677-52571758
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:827)
CpG islands
(count:245)
Chromatin interactive
region (count:22)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:827 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr5:52552660-52552827	K562	blood:	n/a	n/a
2	ATF1	chr5:52549437-52549887	K562	blood:	n/a	n/a
3	ATF1	chr5:52541926-52542291	K562	blood:	n/a	n/a
4	ATF1	chr5:52496378-52496405	K562	blood:	n/a	n/a
5	BATF	chr5:52507703-52507918	GM12878	blood:	n/a	chr5:52507794-52507805
6	BATF	chr5:52514994-52515362	GM12878	blood:	n/a	n/a
7	BATF	chr5:52507674-52507927	GM12878	blood:	n/a	chr5:52507794-52507805
8	BHLHE40	chr5:52497763-52497949	K562	blood:	n/a	n/a
9	BHLHE40	chr5:52549522-52549682	K562	blood:	n/a	n/a
10	CBX3	chr5:52563518-52563811	K562	blood:	n/a	n/a
11	CCNT2	chr5:52549403-52549698	K562	blood:	n/a	n/a
12	CCNT2	chr5:52541887-52542140	K562	blood:	n/a	n/a
13	CEBPB	chr5:52513515-52513749	HepG2	liver:	n/a	n/a
14	CEBPB	chr5:52559038-52559209	A549	lung:	n/a	n/a
15	CEBPB	chr5:52495675-52496056	Hela-S3	cervix:	n/a	chr5:52495858-52495869
16	CEBPB	chr5:52513522-52513715	IMR90	lung:	n/a	n/a
17	CEBPB	chr5:52554957-52555072	K562	blood:	n/a	n/a
18	CEBPB	chr5:52495844-52495875	H1-hESC	embryonic stem cell:	n/a	chr5:52495858-52495869
19	CEBPB	chr5:52532352-52532430	IMR90	lung:	n/a	n/a
20	CEBPB	chr5:52495715-52496023	HepG2	liver:	n/a	chr5:52495858-52495869
21	CEBPB	chr5:52495712-52496013	IMR90	lung:	n/a	chr5:52495858-52495869
22	CEBPB	chr5:52559129-52559204	K562	blood:	n/a	n/a
23	CEBPB	chr5:52549283-52549736	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr5:52556626-52556938	HepG2	liver:	n/a	chr5:52556771-52556782
25	CEBPB	chr5:52500077-52500200	K562	blood:	n/a	chr5:52500137-52500148
26	CEBPB	chr5:52495710-52495995	A549	lung:	n/a	chr5:52495858-52495869
27	CEBPB	chr5:52500030-52500264	HepG2	liver:	n/a	chr5:52500137-52500148
28	CEBPB	chr5:52541885-52542210	K562	blood:	n/a	n/a
29	CEBPB	chr5:52541894-52542245	IMR90	lung:	n/a	n/a
30	CEBPB	chr5:52507773-52507830	IMR90	lung:	n/a	n/a
31	CEBPB	chr5:52556610-52556932	K562	blood:	n/a	chr5:52556771-52556782
32	CEBPB	chr5:52495713-52496009	K562	blood:	n/a	chr5:52495858-52495869
33	CEBPB	chr5:52527102-52527252	IMR90	lung:	n/a	n/a
34	CEBPB	chr5:52556626-52556899	IMR90	lung:	n/a	chr5:52556771-52556782
35	CEBPD	chr5:52549444-52549866	K562	blood:	n/a	n/a
36	CEBPD	chr5:52541722-52542181	K562	blood:	n/a	n/a
37	CEBPD	chr5:52549371-52549832	K562	blood:	n/a	n/a
38	CHD1	chr5:52557716-52559136	IMR90	lung:	n/a	n/a
39	CHD2	chr5:52549270-52549747	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr5:52497640-52497790	HCPEpiC	choroid plexus:	n/a	n/a
41	CTCF	chr5:52497660-52497810	HVMF	connective:	n/a	n/a
42	CTCF	chr5:52539340-52539490	HFF-Myc	foreskin:	n/a	chr5:52539433-52539446
43	CTCF	chr5:52497681-52497844	MCF-7	breast:	n/a	n/a
44	CTCF	chr5:52558320-52558470	HMF	breast:	n/a	n/a
45	CTCF	chr5:52497700-52497850	HL-60	blood:	n/a	n/a
46	CTCF	chr5:52539360-52539510	A549	lung:	n/a	chr5:52539433-52539446
47	CTCF	chr5:52539360-52539523	Gliobla	brain:	n/a	chr5:52539433-52539446
48	CTCF	chr5:52539400-52539550	HMF	breast:	n/a	chr5:52539433-52539446
49	CTCF	chr5:52558320-52558470	HPAF	blood vessel:	n/a	n/a
50	CTCF	chr5:52539379-52539456	GM12878	blood:	n/a	chr5:52539433-52539446

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:52536202-52536252	BJ	skin:	n/a
2	chr5:52536202-52536252	BJ	skin:	n/a
3	chr5:52558413-52558463	PANC-1	pancreas:	n/a
4	chr5:52536202-52536252	NB4	blood:	n/a
5	chr5:52536202-52536252	MCF-7	breast:	n/a
6	chr5:52545222-52545272	CMK	blood:	n/a
7	chr5:52558413-52558463	HNPCEpiC	eye:	n/a
8	chr5:52536202-52536252	Caco-2	colon:	n/a
9	chr5:52536202-52536252	GM12878	blood:	n/a
10	chr5:52558413-52558463	T-47D	breast:	n/a
11	chr5:52536202-52536252	NHDF-neo	bronchial:	n/a
12	chr5:52558413-52558463	HPAEpiC	pulmonary alveolar:	n/a
13	chr5:52543882-52543932	SK-N-SH_RA	brain:	n/a
14	chr5:52543882-52543932	ECC-1	luminal epithelium:	n/a
15	chr5:52545222-52545272	AoSMC	blood vessel:	n/a
16	chr5:52536202-52536252	HPAEpiC	pulmonary alveolar:	n/a
17	chr5:52558413-52558463	AG04450	lung:	fetal
18	chr5:52536202-52536252	AG04449	skin:	fetal
19	chr5:52536202-52536252	CMK	blood:	n/a
20	chr5:52543882-52543932	NHDF-neo	bronchial:	n/a
21	chr5:52543882-52543932	HEK293	kidney:	embryo
22	chr5:52558413-52558463	GM12892	blood:	n/a
23	chr5:52536202-52536252	HAEpiC	amniotic membrane:	n/a
24	chr5:52545222-52545272	A549	lung:	n/a
25	chr5:52545222-52545272	AG04450	lung:	fetal
26	chr5:52558413-52558463	PrEC	prostate:	n/a
27	chr5:52558413-52558463	HMEC	breast:	n/a
28	chr5:52545222-52545272	Hela-S3	cervix:	n/a
29	chr5:52558413-52558463	GM19239	blood:	n/a
30	chr5:52536202-52536252	Jurkat	blood:	n/a
31	chr5:52536202-52536252	MCF10A-Er-Src	breast:	n/a
32	chr5:52545222-52545272	HepG2	liver:	n/a
33	chr5:52558413-52558463	HL-60	blood:	n/a
34	chr5:52543882-52543932	CMK	blood:	n/a
35	chr5:52558413-52558463	LNCaP	prostate:	n/a
36	chr5:52536202-52536252	HepG2	liver:	n/a
37	chr5:52558413-52558463	NH-A	brain:	n/a
38	chr5:52536202-52536252	A549	lung:	n/a
39	chr5:52545222-52545272	SAEC	small airway:	n/a
40	chr5:52558413-52558463	HCF	heart:	n/a
41	chr5:52558413-52558463	GM12891	blood:	n/a
42	chr5:52545222-52545272	U87	brain:	n/a
43	chr5:52543882-52543932	BJ	skin:	n/a
44	chr5:52545222-52545272	GM12878	blood:	n/a
45	chr5:52545222-52545272	ECC-1	luminal epithelium:	n/a
46	chr5:52558413-52558463	HUVEC	blood vessel:	n/a
47	chr5:52558413-52558463	BE2_C	brain:	n/a
48	chr5:52543882-52543932	HCT-116	colon:	n/a
49	chr5:52543882-52543932	Hepatocyte	liver:	n/a
50	chr5:52536202-52536252	LNCaP	prostate:	n/a

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:52419531..52420160-chr5:52497344..52497892,2	MCF-7	breast:
2	chr5:52557915..52559050-chr5:52720439..52721077,3	MCF-7	breast:
3	chr5:52546931..52549678-chr5:52551322..52553331,2	K562	blood:
4	chr5:52557934..52558670-chr5:53530298..53530860,2	MCF-7	breast:
5	chr5:52466675..52467343-chr5:52557913..52558684,2	MCF-7	breast:
6	chr5:52537239..52539717-chr5:52539892..52542383,2	K562	blood:
7	chr5:52532240..52534104-chr5:52535420..52537788,2	K562	blood:
8	chr5:52562219..52562930-chr5:52570221..52570790,2	MCF-7	breast:
9	chr5:52514986..52517115-chr5:52518136..52519755,2	MCF-7	breast:
10	chr5:52556927..52559898-chr5:53605181..53607975,2	K562	blood:
11	chr5:52514986..52517115-chr5:52518136..52519755,2	MCF-7	breast:
12	chr5:52546931..52549678-chr5:52551322..52553331,2	K562	blood:
13	chr5:52562219..52562930-chr5:52570221..52570790,2	MCF-7	breast:
14	chr5:52537239..52539717-chr5:52539892..52542383,2	K562	blood:
15	chr5:52541978..52544639-chr5:52547451..52550337,2	K562	blood:
16	chr5:52557126..52559767-chr7:94821707..94823936,2	MCF-7	breast:
17	chr5:52532240..52534104-chr5:52535420..52537788,2	K562	blood:
18	chr5:52557924..52558878-chr5:52587757..52588494,4	MCF-7	breast:
19	chr5:52557912..52558891-chr5:52726084..52727112,5	MCF-7	breast:
20	chr5:52557875..52558873-chr5:52630604..52631511,3	MCF-7	breast:
21	chr5:52541978..52544639-chr5:52547451..52550337,2	K562	blood:
22	chr5:52555362..52559874-chr5:52773388..52777640,5	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MOCS2-5	chr5:52547153-52547418	NONHSAT101427
2	lnc-MOCS2-5	chr5:52543829-52544029	NONHSAT101427
3	lnc-MOCS2-5	chr5:52514226-52514749	NONHSAT101427

No data

Variant related genes	Relation type
ENSG00000213940	TF binding region
ENSG00000213940	CpG island
ENSG00000134363	chromatin interactions
ENSG00000185305	chromatin interactions

Extended variants
information (count: 3694 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:3694 , 50 per page) page: 1 2 3 4 5 6 7 ... 74

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs254503	chr5:52492677-52492678	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs534510256	chr5:52492694-52492695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553281907	chr5:52492726-52492727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574625185	chr5:52492731-52492732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142942741	chr5:52492751-52492752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113667906	chr5:52492754-52492755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374405543	chr5:52492767-52492768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113251199	chr5:52492768-52492769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs59480151	chr5:52492782-52492783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199628261	chr5:52492783-52492784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146132235	chr5:52492838-52492839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546327302	chr5:52492848-52492849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531206553	chr5:52492875-52492876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564560149	chr5:52492889-52492890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528729942	chr5:52492925-52492926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs17241927	chr5:52492933-52492934	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs113135845	chr5:52492944-52492945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181685317	chr5:52492999-52493000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550834952	chr5:52493070-52493071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76856831	chr5:52493073-52493074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530385882	chr5:52493074-52493075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551894481	chr5:52493101-52493102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567803043	chr5:52493108-52493109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79879784	chr5:52493118-52493119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76319868	chr5:52493119-52493120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570453104	chr5:52493120-52493121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535670714	chr5:52493124-52493125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567403577	chr5:52493177-52493178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs117150714	chr5:52493251-52493252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112689770	chr5:52493388-52493389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141584735	chr5:52493413-52493414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187096748	chr5:52493533-52493534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575746942	chr5:52493674-52493675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546214965	chr5:52493691-52493692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558311215	chr5:52493854-52493855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150813977	chr5:52493867-52493868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573239905	chr5:52493889-52493890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs812852	chr5:52493909-52493910	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs562146782	chr5:52493913-52493914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs17242004	chr5:52493963-52493964	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs61125444	chr5:52493973-52493974	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs562825143	chr5:52494033-52494034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530449893	chr5:52494055-52494056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs367701273	chr5:52494058-52494059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375518625	chr5:52494061-52494062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551749879	chr5:52494084-52494085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs774236	chr5:52494094-52494095	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs528180354	chr5:52494095-52494096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139256150	chr5:52494096-52494097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544455184	chr5:52494178-52494179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:328 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52487600-52494400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:52489000-52507000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:52489600-52507800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:52491000-52496000	Weak transcription	Hela-S3	cervix
5	chr5:52494400-52495200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:52495000-52495200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:52495200-52496000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:52496000-52496400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:52496000-52496400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:52496000-52496400	Enhancers	Fetal Lung	lung
11	chr5:52496000-52496400	Enhancers	Dnd41	blood
12	chr5:52496000-52496600	Enhancers	Adipose Nuclei	Adipose
13	chr5:52496000-52496800	Enhancers	Hela-S3	cervix
14	chr5:52506800-52508200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:52506800-52508200	Enhancers	HMEC	breast
16	chr5:52506800-52508200	Enhancers	NHEK	skin
17	chr5:52507000-52507400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr5:52507000-52507400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr5:52507000-52508200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:52507400-52507800	Enhancers	HUVEC	blood vessel
21	chr5:52507400-52508200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr5:52507400-52508200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:52507400-52508400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:52507800-52508000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:52508200-52508400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr5:52508200-52509600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:52509600-52540000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:52515200-52515600	Active TSS	GM12878-XiMat	blood
29	chr5:52525400-52526000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
30	chr5:52526000-52526600	Active TSS	Fetal Heart	heart
31	chr5:52526600-52526800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:52526800-52528000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:52528000-52529000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:52529000-52535200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr5:52530200-52540000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:52532000-52532200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr5:52533200-52535400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:52533600-52534200	Enhancers	HSMM	muscle
39	chr5:52533600-52534200	Enhancers	HSMMtube	muscle
40	chr5:52534200-52540600	Weak transcription	HSMM	muscle
41	chr5:52535000-52536600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:52535000-52536600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr5:52535200-52535600	Enhancers	Muscle Satellite Cultured Cells	--
44	chr5:52535200-52535600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:52535200-52535600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:52535200-52535600	Enhancers	Adipose Nuclei	Adipose
47	chr5:52535200-52535600	Enhancers	HMEC	breast
48	chr5:52535200-52535600	Enhancers	NHDF-Ad	bronchial
49	chr5:52535200-52535800	Enhancers	NHEK	skin
50	chr5:52535200-52535800	Enhancers	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links