Variant report

Variant	nsv546933
Chromosome Location	chr1:103356168-103455217
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	CEBPB	chr1:103420205-103420542	A549	lung:	n/a	chr1:103420350-103420361
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	chr1:103363004-103363495	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr1:103424437-103424754	HepG2	liver:	n/a	n/a
7	CEBPB	chr1:103420192-103420500	IMR90	lung:	n/a	chr1:103420350-103420361
8	CEBPB	chr1:103363066-103363488	A549	lung:	n/a	n/a
9	CEBPB	chr1:103420192-103420551	H1-hESC	embryonic stem cell:	n/a	chr1:103420350-103420361
10	CEBPB	chr1:103420187-103420500	HepG2	liver:	n/a	chr1:103420350-103420361
11	CEBPB	chr1:103385312-103385827	Hela-S3	cervix:	n/a	chr1:103385694-103385707 chr1:103385696-103385707 chr1:103385694-103385707 chr1:103385696-103385707 chr1:103385694-103385707
12	CHD2	chr1:103363173-103363438	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr1:103436115-103436389	GM12878	blood:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
14	CTCF	chr1:103436160-103436310	HA-sp	spinal cord:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
15	CTCF	chr1:103436160-103436310	NB4	blood:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
16	CTCF	chr1:103436140-103436290	GM12875	blood:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
17	CTCF	chr1:103436160-103436310	GM12866	blood:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
18	CTCF	chr1:103436140-103436290	GM12864	blood:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
19	CTCF	chr1:103436190-103436357	NHEK	skin:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
20	CTCF	chr1:103436140-103436290	HEK293	kidney:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
21	CTCF	chr1:103436130-103436336	HepG2	liver:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
22	CTCF	chr1:103436160-103436310	HRPEpiC	eye:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
23	CTCF	chr1:103436160-103436310	HUVEC	blood vessel:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
24	CTCF	chr1:103436140-103436290	HL-60	blood:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
25	CTCF	chr1:103436140-103436290	K562	blood:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
26	CTCF	chr1:103436160-103436310	HPF	lung:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
27	CTCF	chr1:103436138-103436362	LNCaP	prostate:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
28	CTCF	chr1:103436142-103436410	Gliobla	brain:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
29	CTCF	chr1:103436180-103436330	HAc	cerebellar:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
30	CTCF	chr1:103436160-103436310	NHDF-neo	bronchial:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
31	CTCF	chr1:103436180-103436330	GM12870	blood:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
32	CTCF	chr1:103436127-103436380	GM13977	blood:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
33	CTCF	chr1:103436140-103436290	HMEC	breast:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
34	CTCF	chr1:103436160-103436310	AG04450	lung:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
35	CTCF	chr1:103420312-103420383	GM13976	blood:	n/a	n/a
36	CTCF	chr1:103436220-103436370	HBMEC	blood vessel:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
37	CTCF	chr1:103436145-103436376	LNCaP	prostate:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
38	CTCF	chr1:103436153-103436432	GM20000	blood:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
39	CTCF	chr1:103436052-103436458	GM12878	blood:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
40	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
41	CTCF	chr1:103436020-103436170	HAc	cerebellar:	n/a	n/a
42	CTCF	chr1:103436140-103436290	HMF	breast:	n/a	chr1:103436238-103436256 chr1:103436233-103436254 chr1:103436240-103436253 chr1:103436239-103436255 chr1:103436243-103436251
43	CTCF	chr1:103436080-103436230	MCF-7	breast:	n/a	n/a
44	CTCF	chr1:103436080-103436230	HVMF	connective:	n/a	n/a
45	CTCF	chr1:103436120-103436270	HVMF	connective:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
46	CTCF	chr1:103436140-103436290	WERI-Rb-1	eye:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
47	CTCF	chr1:103436194-103436392	A549	lung:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
48	CTCF	chr1:103436212-103436361	H1-hESC	embryonic stem cell:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
49	CTCF	chr1:103436236-103436402	GM12891	blood:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255
50	CTCF	chr1:103436180-103436330	GM12871	blood:	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	chr1:103399388-103399438	SKMC	muscle:	n/a
2	chr1:103399388-103399438	Hepatocyte	liver:	n/a
3	chr1:103399388-103399438	NHDF-neo	bronchial:	n/a
4	chr1:103399388-103399438	NT2-D1	testis:	n/a
5	chr1:103399388-103399438	IMR90	lung:	fetal
6	chr1:103399388-103399438	GM12892	blood:	n/a
7	chr1:103399388-103399438	CMK	blood:	n/a
8	chr1:103399388-103399438	Jurkat	blood:	n/a
9	chr1:103399388-103399438	U87	brain:	n/a
10	chr1:103399388-103399438	HAEpiC	amniotic membrane:	n/a
11	chr1:103399388-103399438	GM12891	blood:	n/a
12	chr1:103399388-103399438	LNCaP	prostate:	n/a
13	chr1:103399388-103399438	Hela-S3	cervix:	n/a
14	chr1:103399388-103399438	AG09319	gingival:	n/a
15	chr1:103399388-103399438	HRPEpiC	eye:	n/a
16	chr1:103399388-103399438	HNPCEpiC	eye:	n/a
17	chr1:103399388-103399438	HCM	heart:	n/a
18	chr1:103399388-103399438	HL-60	blood:	n/a
19	chr1:103399388-103399438	HepG2	liver:	n/a
20	chr1:103399388-103399438	AoSMC	blood vessel:	n/a
21	chr1:103399388-103399438	K562	blood:	n/a
22	chr1:103399388-103399438	HEEpiC	esophagus:	n/a
23	chr1:103399388-103399438	HUVEC	blood vessel:	n/a
24	chr1:103399388-103399438	SAEC	small airway:	n/a
25	chr1:103399388-103399438	PANC-1	pancreas:	n/a
26	chr1:103399388-103399438	PrEC	prostate:	n/a
27	chr1:103399388-103399438	AG09309	skin:	n/a
28	chr1:103399388-103399438	SK-N-SH_RA	brain:	n/a
29	chr1:103399388-103399438	NHBE	bronchial:	n/a
30	chr1:103399388-103399438	H1-hESC	embryonic stem cell:	embryo
31	chr1:103399388-103399438	AG04449	skin:	fetal
32	chr1:103399388-103399438	GM06990	blood:	n/a
33	chr1:103399388-103399438	HRCEpiC	kidney:	n/a
34	chr1:103399388-103399438	HEK293	kidney:	embryo
35	chr1:103399388-103399438	HCPEpiC	choroid plexus:	n/a
36	chr1:103399388-103399438	T-47D	breast:	n/a
37	chr1:103399388-103399438	ProgFib	skin:	n/a
38	chr1:103399388-103399438	RPTEC	kidney:	n/a
39	chr1:103399388-103399438	HCF	heart:	n/a
40	chr1:103399388-103399438	HRE	kidney:	n/a
41	chr1:103399388-103399438	PFSK-1	brain:	n/a
42	chr1:103399388-103399438	BE2_C	brain:	n/a
43	chr1:103399388-103399438	ovcar-3	ovarian:	n/a
44	chr1:103399388-103399438	AG04450	lung:	fetal
45	chr1:103399388-103399438	HMEC	breast:	n/a
46	chr1:103399388-103399438	MCF-7	breast:	n/a
47	chr1:103399388-103399438	MCF10A-Er-Src	breast:	n/a
48	chr1:103399388-103399438	SK-N-MC	brain:	n/a
49	chr1:103399388-103399438	GM19239	blood:	n/a
50	chr1:103399388-103399438	AG10803	skin:	n/a

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

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

Extended variants
information (count: 4085 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:4085 , 50 per page) page: 1 2 3 4 5 6 7 ... 82

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1085	chr1:103356168-103356169	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530344867	chr1:103356233-103356234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1841836	chr1:103356236-103356237	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs567192611	chr1:103356249-103356250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370157110	chr1:103356329-103356330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182493920	chr1:103356372-103356373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34387815	chr1:103356449-103356450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs397718134	chr1:103356455-103356456	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558943836	chr1:103356460-103356461	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186712344	chr1:103356470-103356471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs367568537	chr1:103356472-103356473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140983767	chr1:103356476-103356477	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1241164	chr1:103356477-103356478	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs575508332	chr1:103356507-103356508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542848700	chr1:103356512-103356513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191134649	chr1:103356521-103356522	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573046606	chr1:103356530-103356531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1241165	chr1:103356554-103356555	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs183840064	chr1:103356622-103356623	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532014601	chr1:103356635-103356636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543882087	chr1:103356637-103356638	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562287412	chr1:103356746-103356747	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75926220	chr1:103356759-103356760	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561892519	chr1:103356785-103356786	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191992448	chr1:103356807-103356808	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566953341	chr1:103356825-103356826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138558935	chr1:103356855-103356856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183445255	chr1:103356856-103356857	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545916607	chr1:103356867-103356868	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570840988	chr1:103356874-103356875	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187778717	chr1:103356876-103356877	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574195459	chr1:103356880-103356881	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145131545	chr1:103356936-103356937	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560014146	chr1:103356965-103356966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538291555	chr1:103356984-103356985	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533547367	chr1:103356986-103356987	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114464279	chr1:103356990-103356991	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551824401	chr1:103356999-103357000	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192769573	chr1:103357009-103357010	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184316457	chr1:103357013-103357014	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs34403596	chr1:103357040-103357041	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368468228	chr1:103357076-103357077	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554722168	chr1:103357082-103357083	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572967045	chr1:103357084-103357085	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34711443	chr1:103357089-103357090	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140428021	chr1:103357117-103357118	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190037292	chr1:103357185-103357186	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564014357	chr1:103357222-103357223	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs386419553	chr1:103357266-103357267	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs77254787	chr1:103357267-103357268	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	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
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:340 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103338400-103369400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:103338800-103357200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:103343400-103356200	Weak transcription	Fetal Heart	heart
4	chr1:103343400-103366000	Weak transcription	Fetal Brain Female	brain
5	chr1:103345600-103385600	Weak transcription	HSMMtube	muscle
6	chr1:103345800-103357200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:103346200-103357400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:103346200-103357400	Weak transcription	NH-A	brain
9	chr1:103348200-103357400	Weak transcription	HSMM	muscle
10	chr1:103348200-103357400	Weak transcription	Osteobl	bone
11	chr1:103350000-103369400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:103350400-103380200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:103350800-103378600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:103352600-103357600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:103352600-103362400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr1:103352600-103403200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:103352800-103357400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:103353600-103357200	Weak transcription	HMEC	breast
19	chr1:103353600-103357400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:103354800-103357800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:103354800-103377400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:103355000-103378000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:103355200-103357000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:103355400-103360400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:103356400-103356800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:103357000-103357400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:103357000-103358400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:103357200-103357400	Active TSS	A549	lung
29	chr1:103357200-103358200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:103357200-103358200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr1:103357200-103358200	Enhancers	HMEC	breast
32	chr1:103357200-103358400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:103357200-103358400	Enhancers	NHDF-Ad	bronchial
34	chr1:103357200-103358600	Enhancers	HUVEC	blood vessel
35	chr1:103357200-103359600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:103357400-103357600	Enhancers	Muscle Satellite Cultured Cells	--
37	chr1:103357400-103357600	Flanking Active TSS	A549	lung
38	chr1:103357400-103358200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:103357400-103358200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:103357400-103358200	Enhancers	HSMM	muscle
41	chr1:103357400-103358400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:103357400-103358400	Enhancers	NH-A	brain
43	chr1:103357400-103358800	Enhancers	Osteobl	bone
44	chr1:103357400-103359800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr1:103357600-103357800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr1:103357600-103357800	Enhancers	A549	lung
47	chr1:103357600-103358400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:103357800-103358000	Enhancers	Muscle Satellite Cultured Cells	--
49	chr1:103357800-103358000	Flanking Active TSS	A549	lung
50	chr1:103357800-103358800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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