Variant report

Variant	nsv597261
Chromosome Location	chr5:14913369-14962587
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:781)
CpG islands
(count:183)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:781 , 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	ARID3A	chr5:14915242-14915249	K562	blood:	n/a	n/a
2	ARID3A	chr5:14915199-14915735	HepG2	liver:	n/a	n/a
3	ATF2	chr5:14926035-14926446	GM12878	blood:	n/a	n/a
4	ATF2	chr5:14925974-14926493	GM12878	blood:	n/a	n/a
5	BATF	chr5:14926045-14926372	GM12878	blood:	n/a	n/a
6	BATF	chr5:14925992-14926450	GM12878	blood:	n/a	n/a
7	BCL11A	chr5:14926067-14926394	GM12878	blood:	n/a	n/a
8	BDP1	chr5:14946657-14947074	Hela-S3	cervix:	n/a	n/a
9	BHLHE40	chr5:14959568-14959781	HepG2	liver:	n/a	n/a
10	BRCA1	chr5:14944555-14945635	Hela-S3	cervix:	n/a	n/a
11	BRCA1	chr5:14959305-14960017	Hela-S3	cervix:	n/a	n/a
12	CBX3	chr5:14946828-14947318	HCT-116	colon:	n/a	n/a
13	CCNT2	chr5:14922574-14922771	K562	blood:	n/a	n/a
14	CEBPB	chr5:14958329-14958645	A549	lung:	n/a	n/a
15	CEBPB	chr5:14913291-14913524	Hela-S3	cervix:	n/a	chr5:14913445-14913456
16	CEBPB	chr5:14946918-14947641	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr5:14924545-14924796	IMR90	lung:	n/a	chr5:14924661-14924672
18	CEBPB	chr5:14944975-14945941	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr5:14914811-14915108	HepG2	liver:	n/a	n/a
20	CEBPB	chr5:14930125-14930203	HepG2	liver:	n/a	n/a
21	CEBPB	chr5:14960467-14960708	HepG2	liver:	n/a	chr5:14960573-14960584
22	CEBPB	chr5:14924624-14924847	Hela-S3	cervix:	n/a	chr5:14924661-14924672
23	CEBPB	chr5:14945202-14945295	A549	lung:	n/a	n/a
24	CEBPB	chr5:14913291-14913593	K562	blood:	n/a	chr5:14913445-14913456
25	CEBPB	chr5:14958327-14958719	A549	lung:	n/a	n/a
26	CEBPB	chr5:14923180-14923357	HepG2	liver:	n/a	chr5:14923237-14923248
27	CEBPB	chr5:14923169-14923369	IMR90	lung:	n/a	chr5:14923237-14923248
28	CEBPB	chr5:14925980-14926410	IMR90	lung:	n/a	n/a
29	CEBPB	chr5:14960420-14960769	Hela-S3	cervix:	n/a	chr5:14960573-14960584
30	CEBPB	chr5:14924615-14924815	HepG2	liver:	n/a	chr5:14924661-14924672
31	CEBPB	chr5:14958341-14958569	HepG2	liver:	n/a	n/a
32	CEBPB	chr5:14924580-14924767	H1-hESC	embryonic stem cell:	n/a	chr5:14924661-14924672
33	CEBPB	chr5:14913312-14913555	HepG2	liver:	n/a	chr5:14913445-14913456
34	CEBPB	chr5:14929978-14930220	IMR90	lung:	n/a	n/a
35	CEBPB	chr5:14923206-14923348	K562	blood:	n/a	chr5:14923237-14923248
36	CEBPB	chr5:14913347-14913543	A549	lung:	n/a	chr5:14913445-14913456
37	CEBPB	chr5:14960543-14960606	IMR90	lung:	n/a	chr5:14960573-14960584
38	CEBPB	chr5:14914862-14915217	IMR90	lung:	n/a	n/a
39	CEBPB	chr5:14958279-14958702	MCF-7	breast:	n/a	n/a
40	CEBPB	chr5:14947469-14947671	HepG2	liver:	n/a	n/a
41	CEBPB	chr5:14923152-14923388	Hela-S3	cervix:	n/a	chr5:14923237-14923248
42	CEBPB	chr5:14958217-14960214	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr5:14914768-14915350	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr5:14958360-14958629	IMR90	lung:	n/a	n/a
45	CEBPB	chr5:14913280-14913620	IMR90	lung:	n/a	chr5:14913445-14913456
46	CEBPD	chr5:14919123-14919790	K562	blood:	n/a	n/a
47	CHD2	chr5:14926263-14926326	GM12878	blood:	n/a	n/a
48	CHD2	chr5:14947118-14947121	H1-hESC	embryonic stem cell:	n/a	n/a
49	CHD2	chr5:14959220-14960136	Hela-S3	cervix:	n/a	n/a
50	CHD2	chr5:14958389-14958664	Hela-S3	cervix:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:14926200-14926250	Caco-2	colon:	n/a
2	chr5:14915807-14915857	Hela-S3	cervix:	n/a
3	chr5:14915807-14915857	BJ	skin:	n/a
4	chr5:14915807-14915857	ECC-1	luminal epithelium:	n/a
5	chr5:14915807-14915857	GM12892	blood:	n/a
6	chr5:14957124-14957174	GM19239	blood:	n/a
7	chr5:14926200-14926250	AoSMC	blood vessel:	n/a
8	chr5:14915807-14915857	HEEpiC	esophagus:	n/a
9	chr5:14926200-14926250	HCM	heart:	n/a
10	chr5:14957124-14957174	NB4	blood:	n/a
11	chr5:14926200-14926250	H1-hESC	embryonic stem cell:	embryo
12	chr5:14926200-14926250	HAEpiC	amniotic membrane:	n/a
13	chr5:14926200-14926250	Jurkat	blood:	n/a
14	chr5:14926200-14926250	NT2-D1	testis:	n/a
15	chr5:14926200-14926250	MCF-7	breast:	n/a
16	chr5:14957124-14957174	NT2-D1	testis:	n/a
17	chr5:14957124-14957174	K562	blood:	n/a
18	chr5:14926200-14926250	HRPEpiC	eye:	n/a
19	chr5:14915807-14915857	GM12891	blood:	n/a
20	chr5:14926200-14926250	K562	blood:	n/a
21	chr5:14915807-14915857	GM19239	blood:	n/a
22	chr5:14926200-14926250	HUVEC	blood vessel:	n/a
23	chr5:14915807-14915857	LNCaP	prostate:	n/a
24	chr5:14915807-14915857	HRE	kidney:	n/a
25	chr5:14915807-14915857	A549	lung:	n/a
26	chr5:14957124-14957174	HAEpiC	amniotic membrane:	n/a
27	chr5:14957124-14957174	AoSMC	blood vessel:	n/a
28	chr5:14957124-14957174	HCPEpiC	choroid plexus:	n/a
29	chr5:14926200-14926250	HEK293	kidney:	embryo
30	chr5:14926200-14926250	MCF10A-Er-Src	breast:	n/a
31	chr5:14957124-14957174	Hela-S3	cervix:	n/a
32	chr5:14957124-14957174	HL-60	blood:	n/a
33	chr5:14957124-14957174	AG10803	skin:	n/a
34	chr5:14957124-14957174	HUVEC	blood vessel:	n/a
35	chr5:14915807-14915857	Jurkat	blood:	n/a
36	chr5:14957124-14957174	HRE	kidney:	n/a
37	chr5:14915807-14915857	IMR90	lung:	fetal
38	chr5:14915807-14915857	HCM	heart:	n/a
39	chr5:14957124-14957174	HRPEpiC	eye:	n/a
40	chr5:14915807-14915857	HL-60	blood:	n/a
41	chr5:14926200-14926250	HNPCEpiC	eye:	n/a
42	chr5:14915807-14915857	ovcar-3	ovarian:	n/a
43	chr5:14957124-14957174	HNPCEpiC	eye:	n/a
44	chr5:14957124-14957174	AG04450	lung:	fetal
45	chr5:14957124-14957174	T-47D	breast:	n/a
46	chr5:14915807-14915857	SK-N-MC	brain:	n/a
47	chr5:14926200-14926250	AG10803	skin:	n/a
48	chr5:14915807-14915857	AG09319	gingival:	n/a
49	chr5:14926200-14926250	Hela-S3	cervix:	n/a
50	chr5:14926200-14926250	PrEC	prostate:	n/a

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:14937263..14940130-chr5:14945612..14948261,3	K562	blood:
2	chr5:14946629..14947384-chr5:15003311..15004216,3	K562	blood:
3	chr5:14946879..14947508-chr5:15013777..15014301,2	MCF-7	breast:
4	chr5:14957698..14960549-chr5:14961078..14962776,2	MCF-7	breast:
5	chr5:14946729..14947608-chr5:15003318..15004150,4	MCF-7	breast:
6	chr5:14727240..14728065-chr5:14946815..14947417,2	MCF-7	breast:
7	chr5:14938562..14940130-chr5:14945918..14948261,2	K562	blood:
8	chr5:14947263..14949591-chr5:14957146..14961444,5	MCF-7	breast:
9	chr5:14937263..14940130-chr5:14945612..14948261,3	K562	blood:
10	chr5:14869954..14872343-chr5:14960382..14962303,2	MCF-7	breast:
11	chr5:14853860..14855427-chr5:14933232..14934776,2	MCF-7	breast:
12	chr5:14938562..14940130-chr5:14945918..14948261,2	K562	blood:
13	chr5:14686822..14687524-chr5:14944560..14945527,2	MCF-7	breast:
14	chr5:14663571..14666270-chr5:14954053..14956449,2	MCF-7	breast:
15	chr5:14727214..14727733-chr5:14946754..14947623,2	MCF-7	breast:
16	chr5:14664017..14666090-chr5:14925708..14927348,2	MCF-7	breast:
17	chr5:14871785..14872721-chr5:14946511..14947536,3	MCF-7	breast:
18	chr5:14946624..14947805-chr5:15003290..15004336,15	MCF-7	breast:

No data

Variant related genes	Relation type
SEPHS2P1	TF binding region
ENSG00000212036	TF binding region
SEPHS2P1	CpG island
ENSG00000212036	CpG island
ENSG00000250247	chromatin interactions
ENSG00000261360	chromatin interactions
ENSG00000272057	chromatin interactions
ENSG00000154122	chromatin interactions
ENSG00000154124	chromatin interactions

Extended variants
information (count: 1904 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:1904 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs844335	chr5:14913369-14913370	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564123358	chr5:14913371-14913372	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs192526521	chr5:14913376-14913377	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs149547230	chr5:14913388-14913389	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs528203612	chr5:14913408-14913409	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs565661995	chr5:14913432-14913433	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs184914056	chr5:14913444-14913445	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs188895049	chr5:14913493-14913494	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs567950491	chr5:14913538-14913539	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs79127936	chr5:14913555-14913556	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs547230367	chr5:14913564-14913565	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs571903925	chr5:14913575-14913576	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs538715558	chr5:14913667-14913668	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs79740576	chr5:14913761-14913762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181691045	chr5:14913801-14913802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536255104	chr5:14913876-14913877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs70964582	chr5:14913881-14913882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs3006054	chr5:14913889-14913890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs56132992	chr5:14913897-14913898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs56313369	chr5:14913900-14913901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201793525	chr5:14913903-14913904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs375857676	chr5:14913911-14913912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184619485	chr5:14913965-14913966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546756246	chr5:14913985-14913986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558317968	chr5:14914069-14914070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576671028	chr5:14914173-14914174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568058120	chr5:14914198-14914199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545086765	chr5:14914203-14914204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189457807	chr5:14914270-14914271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs35109603	chr5:14914280-14914281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113187420	chr5:14914303-14914304	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs140541885	chr5:14914311-14914312	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs835127	chr5:14914316-14914317	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs182449202	chr5:14914344-14914345	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs117101414	chr5:14914362-14914363	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs567926728	chr5:14914367-14914368	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs74891914	chr5:14914369-14914370	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs565476600	chr5:14914390-14914391	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs376400562	chr5:14914391-14914392	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs114897329	chr5:14914398-14914399	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs185843815	chr5:14914404-14914405	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs544253423	chr5:14914448-14914449	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs76113005	chr5:14914484-14914485	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs529740513	chr5:14914510-14914511	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs570507279	chr5:14914581-14914582	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs568937820	chr5:14914592-14914593	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs535846210	chr5:14914604-14914605	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs548187250	chr5:14914636-14914637	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs548186017	chr5:14914660-14914661	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs72736599	chr5:14914681-14914682	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	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
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Breast cancer	21364760	CNVD
Non-small cell lung cancer	17643093	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	18940311	CNVD
Central neurocytomas	17123091	CNVD
Mental retardation	17847001	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	19546859	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Gastric cancer	17229543	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:506 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14902000-14913600	Weak transcription	NH-A	brain
2	chr5:14909000-14914400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:14909200-14914400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:14909400-14914600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:14909800-14914400	Weak transcription	Hela-S3	cervix
6	chr5:14911000-14914800	Weak transcription	Fetal Heart	heart
7	chr5:14912000-14914000	Enhancers	Placenta	Placenta
8	chr5:14912000-14916400	Enhancers	Placenta Amnion	Placenta Amnion
9	chr5:14912000-14919200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr5:14912600-14914600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:14912600-14915600	Enhancers	Osteobl	bone
12	chr5:14913000-14916200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:14913000-14916400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:14913600-14913800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:14913600-14913800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:14913600-14913800	Enhancers	HSMMtube	muscle
17	chr5:14913600-14913800	Enhancers	NH-A	brain
18	chr5:14913800-14914400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:14913800-14914600	Weak transcription	NH-A	brain
20	chr5:14913800-14914800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:14913800-14914800	Weak transcription	HSMMtube	muscle
22	chr5:14914000-14915600	Weak transcription	Placenta	Placenta
23	chr5:14914400-14914800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr5:14914400-14916000	Enhancers	NHDF-Ad	bronchial
25	chr5:14914400-14916200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:14914400-14916200	Enhancers	Hela-S3	cervix
27	chr5:14914400-14916400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:14914400-14916800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:14914400-14919000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:14914400-14919000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr5:14914600-14914800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:14914600-14916400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:14914600-14916600	Enhancers	HepG2	liver
34	chr5:14914600-14916600	Enhancers	NH-A	brain
35	chr5:14914800-14915000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr5:14914800-14915000	Enhancers	HSMMtube	muscle
37	chr5:14914800-14915200	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr5:14914800-14915200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:14914800-14915800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:14914800-14915800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr5:14914800-14916000	Enhancers	HSMM	muscle
42	chr5:14914800-14916400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr5:14914800-14916400	Enhancers	Fetal Heart	heart
44	chr5:14914800-14918800	Enhancers	HMEC	breast
45	chr5:14914800-14922600	Weak transcription	Spleen	Spleen
46	chr5:14915000-14915400	Enhancers	Muscle Satellite Cultured Cells	--
47	chr5:14915000-14915400	Weak transcription	HSMMtube	muscle
48	chr5:14915000-14916200	Enhancers	NHEK	skin
49	chr5:14915200-14916000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr5:14915400-14915800	Flanking Active TSS	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links