Variant report

Variant	nsv1011682
Chromosome Location	chr4:55103816-55128149
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:61)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:61 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr4:55121121-55121313	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr4:55122109-55122480	IMR90	lung:	n/a	chr4:55122325-55122336
3	CEBPB	chr4:55120958-55121360	IMR90	lung:	n/a	n/a
4	CEBPB	chr4:55120305-55120682	IMR90	lung:	n/a	n/a
5	CEBPB	chr4:55122240-55122392	HepG2	liver:	n/a	chr4:55122325-55122336
6	CTCF	chr4:55118480-55118630	HCT-116	colon:	n/a	n/a
7	CTCF	chr4:55118600-55118750	HCPEpiC	choroid plexus:	n/a	n/a
8	CTCF	chr4:55118649-55118725	A549	lung:	n/a	n/a
9	CTCF	chr4:55118620-55118770	AoAF	blood vessel:	n/a	n/a
10	CTCF	chr4:55118602-55118780	MCF-7	breast:	n/a	n/a
11	CTCF	chr4:55118600-55118750	AG09319	gingival:	n/a	n/a
12	CTCF	chr4:55118629-55118715	MCF-7	breast:	n/a	n/a
13	CTCF	chr4:55119115-55119157	ProgFib	skin:	n/a	n/a
14	CTCF	chr4:55118654-55118715	MCF-7	breast:	n/a	n/a
15	CTCF	chr4:55118620-55118770	HPF	lung:	n/a	n/a
16	CTCF	chr4:55118640-55118790	HCM	heart:	n/a	n/a
17	CTCF	chr4:55118600-55118750	HMF	breast:	n/a	n/a
18	CTCF	chr4:55118636-55118721	MCF-7	breast:	n/a	n/a
19	CTCF	chr4:55118624-55118720	ProgFib	skin:	n/a	n/a
20	CTCF	chr4:55118580-55118730	HMF	breast:	n/a	n/a
21	CTCF	chr4:55118600-55118750	HPAF	blood vessel:	n/a	n/a
22	CTCF	chr4:55126020-55126170	NHDF-neo	bronchial:	n/a	n/a
23	CTCF	chr4:55118620-55118770	HCFaa	heart:	n/a	n/a
24	CTCF	chr4:55118659-55118701	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr4:55118637-55118736	MCF-7	breast:	n/a	n/a
26	CTCF	chr4:55120069-55120136	LNCaP	prostate:	n/a	n/a
27	CTCF	chr4:55118646-55118739	Gliobla	brain:	n/a	n/a
28	E2F4	chr4:55127679-55127878	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr4:55122146-55122294	MCF10A-Er-Src	breast:	n/a	n/a
30	FOXA1	chr4:55124753-55125044	HepG2	liver:	n/a	n/a
31	FOXA1	chr4:55124675-55124996	HepG2	liver:	n/a	n/a
32	FOXA2	chr4:55110063-55110520	A549	lung:	n/a	n/a
33	GATA3	chr4:55120493-55121077	SK-N-SH	brain:	n/a	n/a
34	KAP1	chr4:55107376-55107676	U2OS	brain:	n/a	n/a
35	KAP1	chr4:55117367-55117692	K562	blood:	n/a	n/a
36	KAP1	chr4:55107321-55107674	HEK293	kidney:	n/a	n/a
37	NFIC	chr4:55120479-55120988	SK-N-SH	brain:	n/a	n/a
38	POLR2A	chr4:55119239-55119270	ProgFib	skin:	n/a	n/a
39	POLR2A	chr4:55118638-55118668	ProgFib	skin:	n/a	n/a
40	POLR2A	chr4:55118905-55118961	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr4:55107085-55107268	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr4:55121149-55121215	Gliobla	brain:	n/a	n/a
43	POLR2A	chr4:55121802-55121829	HepG2	liver:	n/a	n/a
44	POLR2A	chr4:55125737-55125937	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr4:55107473-55107630	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr4:55109509-55109610	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr4:55120912-55121139	Gliobla	brain:	n/a	n/a
48	POLR2A	chr4:55117471-55117589	MCF10A-Er-Src	breast:	n/a	n/a
49	SETDB1	chr4:55117316-55117920	U2OS	brain:	n/a	n/a
50	SETDB1	chr4:55107016-55108210	U2OS	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:55125798-55125848	SKMC	muscle:	n/a
2	chr4:55120729-55120779	BE2_C	brain:	n/a
3	chr4:55120729-55120779	HMEC	breast:	n/a
4	chr4:55104084-55104134	A549	lung:	n/a
5	chr4:55125798-55125848	HRE	kidney:	n/a
6	chr4:55120729-55120779	A549	lung:	n/a
7	chr4:55120729-55120779	ECC-1	luminal epithelium:	n/a
8	chr4:55120729-55120779	NHDF-neo	bronchial:	n/a
9	chr4:55125798-55125848	HUVEC	blood vessel:	n/a
10	chr4:55104084-55104134	HL-60	blood:	n/a
11	chr4:55120729-55120779	HRE	kidney:	n/a
12	chr4:55125798-55125848	HRPEpiC	eye:	n/a
13	chr4:55120729-55120779	U87	brain:	n/a
14	chr4:55120729-55120779	SK-N-SH_RA	brain:	n/a
15	chr4:55120729-55120779	H1-hESC	embryonic stem cell:	embryo
16	chr4:55120729-55120779	HCT-116	colon:	n/a
17	chr4:55120729-55120779	AG04450	lung:	fetal
18	chr4:55104084-55104134	AG09319	gingival:	n/a
19	chr4:55104084-55104134	HRCEpiC	kidney:	n/a
20	chr4:55125798-55125848	GM06990	blood:	n/a
21	chr4:55104084-55104134	SK-N-SH_RA	brain:	n/a
22	chr4:55104084-55104134	HUVEC	blood vessel:	n/a
23	chr4:55104084-55104134	U87	brain:	n/a
24	chr4:55104084-55104134	PFSK-1	brain:	n/a
25	chr4:55120729-55120779	SK-N-SH	brain:	n/a
26	chr4:55104084-55104134	T-47D	breast:	n/a
27	chr4:55104084-55104134	K562	blood:	n/a
28	chr4:55125798-55125848	LNCaP	prostate:	n/a
29	chr4:55125798-55125848	IMR90	lung:	fetal
30	chr4:55120729-55120779	NHBE	bronchial:	n/a
31	chr4:55125798-55125848	HEK293	kidney:	embryo
32	chr4:55120729-55120779	LNCaP	prostate:	n/a
33	chr4:55125798-55125848	Jurkat	blood:	n/a
34	chr4:55104084-55104134	MCF10A-Er-Src	breast:	n/a
35	chr4:55104084-55104134	HNPCEpiC	eye:	n/a
36	chr4:55120729-55120779	PANC-1	pancreas:	n/a
37	chr4:55104084-55104134	ProgFib	skin:	n/a
38	chr4:55125798-55125848	HPAEpiC	pulmonary alveolar:	n/a
39	chr4:55125798-55125848	GM19239	blood:	n/a
40	chr4:55125798-55125848	SK-N-SH_RA	brain:	n/a
41	chr4:55120729-55120779	HCF	heart:	n/a
42	chr4:55125798-55125848	HRCEpiC	kidney:	n/a
43	chr4:55120729-55120779	AoSMC	blood vessel:	n/a
44	chr4:55120729-55120779	HepG2	liver:	n/a
45	chr4:55120729-55120779	Caco-2	colon:	n/a
46	chr4:55125798-55125848	PFSK-1	brain:	n/a
47	chr4:55125798-55125848	K562	blood:	n/a
48	chr4:55125798-55125848	HCF	heart:	n/a
49	chr4:55125798-55125848	MCF10A-Er-Src	breast:	n/a
50	chr4:55120729-55120779	AG09309	skin:	n/a

No data

Variant related genes	Relation type
PDGFRA	TF binding region
PDGFRA	CpG island

Extended variants
information (count: 934 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:934 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545525414	chr4:55103822-55103823	ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs57644424	chr4:55103823-55103824	ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs368630471	chr4:55103863-55103864	ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529509433	chr4:55103921-55103922	ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10686277	chr4:55103990-55103991	ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79047827	chr4:55104002-55104003	Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566059880	chr4:55104015-55104016	Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534886142	chr4:55104021-55104022	Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181748963	chr4:55104069-55104070	Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140242850	chr4:55104097-55104098	Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185229396	chr4:55104099-55104100	Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191012605	chr4:55104248-55104249	Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557297264	chr4:55104271-55104272	Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573968667	chr4:55104272-55104273	Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370076471	chr4:55104304-55104305	Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536682310	chr4:55104352-55104353	Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555693670	chr4:55104366-55104367	Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183113304	chr4:55104394-55104395	Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541184292	chr4:55104407-55104408	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557669966	chr4:55104412-55104413	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556577536	chr4:55104415-55104416	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577637557	chr4:55104416-55104417	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs67432867	chr4:55104454-55104455	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs150321555	chr4:55104501-55104502	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528842268	chr4:55104506-55104507	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542254924	chr4:55104571-55104572	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs79272074	chr4:55104593-55104594	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73252942	chr4:55104604-55104605	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs551909878	chr4:55104618-55104619	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141704620	chr4:55104743-55104744	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186623706	chr4:55104812-55104813	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147120567	chr4:55104925-55104926	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201696199	chr4:55104927-55104928	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567804618	chr4:55104960-55104961	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536647469	chr4:55104972-55104973	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553408064	chr4:55104973-55104974	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558778141	chr4:55104994-55104995	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565941702	chr4:55105026-55105027	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572269045	chr4:55105028-55105029	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534934073	chr4:55105042-55105043	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191071409	chr4:55105047-55105048	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577742457	chr4:55105049-55105050	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372973673	chr4:55105052-55105053	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543636622	chr4:55105078-55105079	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547397173	chr4:55105081-55105082	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138519079	chr4:55105172-55105173	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73149599	chr4:55105182-55105183	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs183050560	chr4:55105211-55105212	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528723649	chr4:55105217-55105218	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs187385300	chr4:55105247-55105248	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	19435819	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian neoplasms	16753589	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21569311	CNVD
Glioblastoma	17504929	CNVD
Glioblastoma	16823502	CNVD
Melanoma	16908931	CNVD
Glioblastoma	20031968	CNVD
Medulloblastoma	19270706	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Olfactory neuroblastoma	18408657	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Rhabdomyosarcoma	16790082	CNVD
Gastrointestinal stromal cancer	17438095	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	19115005	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164920	CNVD
Rhabdomyosarcoma	20807811	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55100600-55104400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:55101000-55104200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:55101000-55104400	Weak transcription	HMEC	breast
4	chr4:55101000-55105200	Weak transcription	Aorta	Aorta
5	chr4:55101200-55105800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr4:55101200-55106400	Weak transcription	Right Atrium	heart
7	chr4:55101400-55104000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr4:55101400-55104600	Weak transcription	Colon Smooth Muscle	Colon
9	chr4:55101400-55110200	Weak transcription	Fetal Kidney	kidney
10	chr4:55102200-55105200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:55102600-55106200	Enhancers	Ovary	ovary
12	chr4:55102800-55106200	Enhancers	Placenta	Placenta
13	chr4:55102800-55109000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:55103400-55104200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:55103400-55105000	Strong transcription	NHLF	lung
16	chr4:55103400-55107000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
17	chr4:55103400-55110000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:55103600-55104000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:55103600-55104000	Genic enhancers	Osteobl	bone
20	chr4:55103600-55104200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:55103800-55104200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr4:55103800-55104200	Active TSS	Colonic Mucosa	Colon
23	chr4:55103800-55104200	Enhancers	NHDF-Ad	bronchial
24	chr4:55103800-55105000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:55103800-55105800	Weak transcription	Fetal Stomach	stomach
26	chr4:55103800-55106200	Weak transcription	Fetal Lung	lung
27	chr4:55104000-55104200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr4:55104000-55104400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:55104000-55109400	Strong transcription	Osteobl	bone
30	chr4:55104000-55110000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr4:55104200-55104400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:55104200-55105000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr4:55104200-55105600	Weak transcription	NHDF-Ad	bronchial
34	chr4:55104200-55106200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:55104200-55106400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:55104200-55110200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr4:55104400-55104800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:55104400-55104800	Enhancers	NHEK	skin
39	chr4:55104400-55105000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr4:55104400-55105400	Enhancers	HMEC	breast
41	chr4:55104400-55106200	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr4:55104600-55104800	Enhancers	Colon Smooth Muscle	Colon
43	chr4:55104800-55105200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:55105000-55105200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr4:55105000-55106400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr4:55105000-55106400	Weak transcription	NHLF	lung
47	chr4:55105200-55105600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr4:55105200-55105600	Enhancers	Aorta	Aorta
49	chr4:55105200-55105800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr4:55105600-55105800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links