Variant report

Variant	nsv546930
Chromosome Location	chr1:103342392-103455217
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	ARID3A	chr1:103424463-103424755	HepG2	liver:	n/a	n/a
2	BRCA1	chr1:103436155-103436294	Hela-S3	cervix:	n/a	n/a
3	CBX3	chr1:103344992-103345640	HCT-116	colon:	n/a	n/a
4	CEBPB	chr1:103385285-103385812	IMR90	lung:	n/a	chr1:103385694-103385707 chr1:103385696-103385707 chr1:103385694-103385707 chr1:103385696-103385707 chr1:103385694-103385707
5	CEBPB	chr1:103420192-103420551	H1-hESC	embryonic stem cell:	n/a	chr1:103420350-103420361
6	CEBPB	chr1:103420187-103420500	HepG2	liver:	n/a	chr1:103420350-103420361
7	CEBPB	chr1:103344931-103345570	IMR90	lung:	n/a	n/a
8	CEBPB	chr1:103344985-103345539	A549	lung:	n/a	n/a
9	CEBPB	chr1:103344973-103345668	HCT-116	colon:	n/a	n/a
10	CEBPB	chr1:103385312-103385827	Hela-S3	cervix:	n/a	chr1:103385694-103385707 chr1:103385696-103385707 chr1:103385694-103385707 chr1:103385696-103385707 chr1:103385694-103385707
11	CEBPB	chr1:103363004-103363495	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr1:103344992-103345511	A549	lung:	n/a	n/a
13	CEBPB	chr1:103363066-103363488	A549	lung:	n/a	n/a
14	CEBPB	chr1:103420192-103420500	IMR90	lung:	n/a	chr1:103420350-103420361
15	CEBPB	chr1:103420205-103420542	A549	lung:	n/a	chr1:103420350-103420361
16	CEBPB	chr1:103424437-103424754	HepG2	liver:	n/a	n/a
17	CEBPB	chr1:103344959-103345583	Hela-S3	cervix:	n/a	n/a
18	CHD2	chr1:103363173-103363438	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr1:103436180-103436330	GM12864	blood:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
20	CTCF	chr1:103436160-103436310	GM12873	blood:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
21	CTCF	chr1:103436180-103436330	GM12872	blood:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
22	CTCF	chr1:103436112-103436368	HUVEC	blood vessel:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
23	CTCF	chr1:103436200-103436350	HCPEpiC	choroid plexus:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
24	CTCF	chr1:103436540-103436690	HFF-Myc	foreskin:	n/a	n/a
25	CTCF	chr1:103436480-103436630	AoAF	blood vessel:	n/a	n/a
26	CTCF	chr1:103436240-103436390	HEK293	kidney:	n/a	chr1:103436240-103436253 chr1:103436243-103436251
27	CTCF	chr1:103436140-103436290	HFF-Myc	foreskin:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
28	CTCF	chr1:103436220-103436370	GM12870	blood:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
29	CTCF	chr1:103436145-103436376	LNCaP	prostate:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
30	CTCF	chr1:103436160-103436310	AG04450	lung:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
31	CTCF	chr1:103436417-103436485	GM12892	blood:	n/a	n/a
32	CTCF	chr1:103436183-103436398	Fibrobl	skin:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
33	CTCF	chr1:103436082-103436313	ECC-1	luminal epithelium:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
34	CTCF	chr1:103436160-103436310	HPF	lung:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
35	CTCF	chr1:103436415-103436416	GM19238	blood:	n/a	n/a
36	CTCF	chr1:103404270-103404339	Lung_OC	lung:	n/a	n/a
37	CTCF	chr1:103436180-103436330	RPTEC	kidney:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
38	CTCF	chr1:103436141-103436369	K562	blood:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
39	CTCF	chr1:103436200-103436350	GM12865	blood:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
40	CTCF	chr1:103436200-103436350	GM12866	blood:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
41	CTCF	chr1:103436123-103436326	T-47D	breast:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
42	CTCF	chr1:103436052-103436458	GM12878	blood:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
43	CTCF	chr1:103436140-103436290	BE2_C	brain:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
44	CTCF	chr1:103436160-103436310	GM12865	blood:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
45	CTCF	chr1:103436094-103436352	A549	lung:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
46	CTCF	chr1:103436243-103436369	MCF-7	breast:	n/a	chr1:103436243-103436251
47	CTCF	chr1:103436140-103436290	GM12878	blood:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
48	CTCF	chr1:103436600-103436750	AG04450	lung:	n/a	n/a
49	CTCF	chr1:103436063-103436357	H1-hESC	embryonic stem cell:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
50	CTCF	chr1:103436140-103436290	HEEpiC	esophagus:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:103343469-103343519	LNCaP	prostate:	n/a
2	chr1:103343469-103343519	LNCaP	prostate:	n/a
3	chr1:103343469-103343519	MCF-7	breast:	n/a
4	chr1:103399388-103399438	GM06990	blood:	n/a
5	chr1:103343469-103343519	Hela-S3	cervix:	n/a
6	chr1:103399388-103399438	GM12891	blood:	n/a
7	chr1:103343469-103343519	SAEC	small airway:	n/a
8	chr1:103343469-103343519	SK-N-MC	brain:	n/a
9	chr1:103399388-103399438	PFSK-1	brain:	n/a
10	chr1:103343469-103343519	HCM	heart:	n/a
11	chr1:103399388-103399438	NHBE	bronchial:	n/a
12	chr1:103343469-103343519	IMR90	lung:	fetal
13	chr1:103399388-103399438	HCM	heart:	n/a
14	chr1:103343469-103343519	GM12892	blood:	n/a
15	chr1:103399388-103399438	HCPEpiC	choroid plexus:	n/a
16	chr1:103399388-103399438	RPTEC	kidney:	n/a
17	chr1:103399388-103399438	SKMC	muscle:	n/a
18	chr1:103399388-103399438	HCT-116	colon:	n/a
19	chr1:103343469-103343519	U87	brain:	n/a
20	chr1:103343469-103343519	GM06990	blood:	n/a
21	chr1:103399388-103399438	A549	lung:	n/a
22	chr1:103399388-103399438	ProgFib	skin:	n/a
23	chr1:103399388-103399438	MCF10A-Er-Src	breast:	n/a
24	chr1:103343469-103343519	NHBE	bronchial:	n/a
25	chr1:103399388-103399438	Caco-2	colon:	n/a
26	chr1:103343469-103343519	HRCEpiC	kidney:	n/a
27	chr1:103399388-103399438	HAEpiC	amniotic membrane:	n/a
28	chr1:103399388-103399438	HRPEpiC	eye:	n/a
29	chr1:103399388-103399438	MCF-7	breast:	n/a
30	chr1:103399388-103399438	HMEC	breast:	n/a
31	chr1:103399388-103399438	SK-N-MC	brain:	n/a
32	chr1:103343469-103343519	Caco-2	colon:	n/a
33	chr1:103399388-103399438	ovcar-3	ovarian:	n/a
34	chr1:103343469-103343519	AG09309	skin:	n/a
35	chr1:103399388-103399438	U87	brain:	n/a
36	chr1:103399388-103399438	T-47D	breast:	n/a
37	chr1:103343469-103343519	BE2_C	brain:	n/a
38	chr1:103343469-103343519	HepG2	liver:	n/a
39	chr1:103399388-103399438	Hela-S3	cervix:	n/a
40	chr1:103399388-103399438	LNCaP	prostate:	n/a
41	chr1:103399388-103399438	AG09309	skin:	n/a
42	chr1:103343469-103343519	HL-60	blood:	n/a
43	chr1:103343469-103343519	PrEC	prostate:	n/a
44	chr1:103399388-103399438	HPAEpiC	pulmonary alveolar:	n/a
45	chr1:103343469-103343519	AG04450	lung:	fetal
46	chr1:103399388-103399438	CMK	blood:	n/a
47	chr1:103343469-103343519	T-47D	breast:	n/a
48	chr1:103399388-103399438	NHDF-neo	bronchial:	n/a
49	chr1:103399388-103399438	SK-N-SH_RA	brain:	n/a
50	chr1:103343469-103343519	SK-N-SH	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:103435891..103438484-chr1:103439465..103441994,2	K562	blood:
2	chr1:103373284..103376255-chr1:103376543..103379257,2	K562	blood:
3	chr1:103426177..103428144-chr1:103433364..103435643,2	K562	blood:
4	chr1:103373284..103376255-chr1:103376543..103379257,2	K562	blood:
5	chr1:103259174..103259873-chr1:103435676..103436665,2	MCF-7	breast:
6	chr1:103426177..103428144-chr1:103433364..103435643,2	K562	blood:
7	chr1:103435891..103438484-chr1:103439465..103441994,2	K562	blood:
8	chr1:103303886..103305574-chr1:103404633..103406434,2	MCF-7	breast:
9	chr1:103016225..103017019-chr1:103436153..103436688,2	MCF-7	breast:

Variant related genes	Relation type
COL11A1	TF binding region
COL11A1	CpG island

Extended variants
information (count: 4661 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:4661 , 50 per page) page: 1 2 3 4 5 6 7 ... 94

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9659030	chr1:103342392-103342393	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573341105	chr1:103342395-103342396	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149947533	chr1:103342451-103342452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12073619	chr1:103342470-103342471	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs41292523	chr1:103342484-103342485	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368798890	chr1:103342540-103342541	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532406799	chr1:103342599-103342600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374055950	chr1:103342663-103342664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562885468	chr1:103342699-103342700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181037780	chr1:103342707-103342708	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549230064	chr1:103342741-103342742	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143875783	chr1:103342766-103342767	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs61813901	chr1:103342791-103342792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528366273	chr1:103342828-103342829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565235475	chr1:103342830-103342831	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74108028	chr1:103342871-103342872	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs186072680	chr1:103342888-103342889	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs202039091	chr1:103342910-103342911	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538294691	chr1:103342919-103342920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74108029	chr1:103342943-103342944	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs532806397	chr1:103342946-103342947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190609187	chr1:103342962-103342963	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536837264	chr1:103342996-103342997	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1051096	chr1:103343011-103343012	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1051095	chr1:103343014-103343015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1051092	chr1:103343053-103343054	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554709369	chr1:103343059-103343060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs3088150	chr1:103343067-103343068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563094116	chr1:103343089-103343090	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185578236	chr1:103343223-103343224	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558834822	chr1:103343270-103343271	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12731575	chr1:103343274-103343275	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs544305890	chr1:103343289-103343290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562983295	chr1:103343350-103343351	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148602088	chr1:103343374-103343375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11164626	chr1:103343421-103343422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539376926	chr1:103343457-103343458	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1031820	chr1:103343470-103343471	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs561018176	chr1:103343491-103343492	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190728953	chr1:103343558-103343559	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376869949	chr1:103343562-103343563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371551881	chr1:103343566-103343567	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1975916	chr1:103343583-103343584	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546905537	chr1:103343586-103343587	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571497194	chr1:103343634-103343635	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144510951	chr1:103343637-103343638	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532113782	chr1:103343671-103343672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199848923	chr1:103343682-103343683	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs367853741	chr1:103343721-103343722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200949243	chr1:103343730-103343731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Lung cancer	17086460	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:487 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103334000-103349800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:103335400-103350000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:103338400-103342800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr1:103338400-103343400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:103338400-103369400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:103338600-103342600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:103338600-103345000	Weak transcription	NH-A	brain
8	chr1:103338800-103357200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:103339000-103342600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:103339000-103345000	Weak transcription	HSMM	muscle
11	chr1:103339200-103349800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:103340000-103345200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:103340800-103350000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:103341400-103345000	Weak transcription	HSMMtube	muscle
15	chr1:103341400-103349800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:103341600-103352000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:103342400-103349800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:103342600-103345200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:103342600-103345200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:103342800-103346000	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr1:103343000-103345800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:103343400-103345000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:103343400-103352000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:103343400-103355800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:103343400-103356200	Weak transcription	Fetal Heart	heart
26	chr1:103343400-103366000	Weak transcription	Fetal Brain Female	brain
27	chr1:103344400-103349800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr1:103344600-103345000	Enhancers	A549	lung
29	chr1:103344800-103345000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr1:103344800-103345000	Enhancers	Osteobl	bone
31	chr1:103344800-103345600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:103345000-103345200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:103345000-103345200	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:103345000-103345200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr1:103345000-103345400	Flanking Active TSS	NH-A	brain
36	chr1:103345000-103345600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:103345000-103345600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:103345000-103345600	Flanking Active TSS	A549	lung
39	chr1:103345000-103345600	Enhancers	Hela-S3	cervix
40	chr1:103345000-103345600	Enhancers	HSMMtube	muscle
41	chr1:103345000-103345600	Flanking Active TSS	Osteobl	bone
42	chr1:103345000-103345800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:103345000-103345800	Enhancers	NHDF-Ad	bronchial
44	chr1:103345000-103346000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:103345000-103346000	Enhancers	HSMM	muscle
46	chr1:103345000-103346000	Enhancers	NHLF	lung
47	chr1:103345000-103346400	Enhancers	HMEC	breast
48	chr1:103345000-103348000	Enhancers	HUVEC	blood vessel
49	chr1:103345200-103345400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:103345200-103345400	Enhancers	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links