Variant report

Variant	nsv871840
Chromosome Location	chr1:103384610-103455217
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	chr1:103420187-103420500	HepG2	liver:	n/a	chr1:103420350-103420361
4	CEBPB	chr1:103424437-103424754	HepG2	liver:	n/a	n/a
5	CEBPB	chr1:103385312-103385827	Hela-S3	cervix:	n/a	chr1:103385694-103385707 chr1:103385696-103385707 chr1:103385694-103385707 chr1:103385696-103385707 chr1:103385694-103385707
6	CEBPB	chr1:103420192-103420500	IMR90	lung:	n/a	chr1:103420350-103420361
7	CEBPB	chr1:103420192-103420551	H1-hESC	embryonic stem cell:	n/a	chr1:103420350-103420361
8	CEBPB	chr1:103385285-103385812	IMR90	lung:	n/a	chr1:103385694-103385707 chr1:103385696-103385707 chr1:103385694-103385707 chr1:103385696-103385707 chr1:103385694-103385707
9	CEBPB	chr1:103420205-103420542	A549	lung:	n/a	chr1:103420350-103420361
10	CTCF	chr1:103436200-103436350	AG09309	skin:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
11	CTCF	chr1:103436277-103436287	MCF-7	breast:	n/a	n/a
12	CTCF	chr1:103435994-103436641	SK-N-SH	brain:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
13	CTCF	chr1:103436140-103436290	HFF-Myc	foreskin:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
14	CTCF	chr1:103436260-103436410	A549	lung:	n/a	n/a
15	CTCF	chr1:103436140-103436290	HMEC	breast:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
16	CTCF	chr1:103436140-103436290	BJ	skin:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
17	CTCF	chr1:103436190-103436341	MCF-7	breast:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
18	CTCF	chr1:103436155-103436372	HepG2	liver:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
19	CTCF	chr1:103436160-103436310	Caco-2	colon:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
20	CTCF	chr1:103436140-103436290	NHDF-neo	bronchial:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
21	CTCF	chr1:103436112-103436368	HUVEC	blood vessel:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
22	CTCF	chr1:103436141-103436369	K562	blood:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
23	CTCF	chr1:103436045-103436353	A549	lung:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
24	CTCF	chr1:103436180-103436330	GM12873	blood:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
25	CTCF	chr1:103436200-103436350	HCPEpiC	choroid plexus:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
26	CTCF	chr1:103436140-103436290	AG09319	gingival:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
27	CTCF	chr1:103436191-103436388	GM19240	blood:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
28	CTCF	chr1:103436160-103436310	GM12873	blood:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
29	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
30	CTCF	chr1:103436140-103436290	GM12872	blood:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
31	CTCF	chr1:103436100-103436250	HFF	foreskin:	n/a	n/a
32	CTCF	chr1:103404270-103404339	Lung_OC	lung:	n/a	n/a
33	CTCF	chr1:103436020-103436170	HAc	cerebellar:	n/a	n/a
34	CTCF	chr1:103436140-103436290	HCFaa	heart:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
35	CTCF	chr1:103436180-103436330	RPTEC	kidney:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
36	CTCF	chr1:103436437-103436466	GM20000	blood:	n/a	n/a
37	CTCF	chr1:103436480-103436630	HCPEpiC	choroid plexus:	n/a	n/a
38	CTCF	chr1:103436234-103436332	MCF-7	breast:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255
39	CTCF	chr1:103436115-103436389	GM12878	blood:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
40	CTCF	chr1:103436140-103436290	BE2_C	brain:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
41	CTCF	chr1:103436540-103436690	BJ	skin:	n/a	n/a
42	CTCF	chr1:103410720-103410870	HBMEC	blood vessel:	n/a	n/a
43	CTCF	chr1:103436140-103436290	GM12874	blood:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
44	CTCF	chr1:103436094-103436352	A549	lung:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
45	CTCF	chr1:103436200-103436350	HepG2	liver:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
46	CTCF	chr1:103436236-103436402	GM12891	blood:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255
47	CTCF	chr1:103436080-103436427	K562	blood:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
48	CTCF	chr1:103436180-103436330	HCM	heart:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
49	CTCF	chr1:103436136-103436287	Lung_OC	lung:	n/a	chr1:103436238-103436256 chr1:103436240-103436253 chr1:103436243-103436251 chr1:103436239-103436255 chr1:103436233-103436254
50	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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:103399388-103399438	GM06990	blood:	n/a
2	chr1:103399388-103399438	PrEC	prostate:	n/a
3	chr1:103399388-103399438	Hepatocyte	liver:	n/a
4	chr1:103399388-103399438	GM12878	blood:	n/a
5	chr1:103399388-103399438	HRPEpiC	eye:	n/a
6	chr1:103399388-103399438	HCPEpiC	choroid plexus:	n/a
7	chr1:103399388-103399438	HCF	heart:	n/a
8	chr1:103399388-103399438	ovcar-3	ovarian:	n/a
9	chr1:103399388-103399438	HEEpiC	esophagus:	n/a
10	chr1:103399388-103399438	AG10803	skin:	n/a
11	chr1:103399388-103399438	PANC-1	pancreas:	n/a
12	chr1:103399388-103399438	RPTEC	kidney:	n/a
13	chr1:103399388-103399438	SAEC	small airway:	n/a
14	chr1:103399388-103399438	NH-A	brain:	n/a
15	chr1:103399388-103399438	HEK293	kidney:	embryo
16	chr1:103399388-103399438	HPAEpiC	pulmonary alveolar:	n/a
17	chr1:103399388-103399438	NT2-D1	testis:	n/a
18	chr1:103399388-103399438	NB4	blood:	n/a
19	chr1:103399388-103399438	Jurkat	blood:	n/a
20	chr1:103399388-103399438	HCT-116	colon:	n/a
21	chr1:103399388-103399438	ProgFib	skin:	n/a
22	chr1:103399388-103399438	AG04450	lung:	fetal
23	chr1:103399388-103399438	AG09319	gingival:	n/a
24	chr1:103399388-103399438	MCF10A-Er-Src	breast:	n/a
25	chr1:103399388-103399438	ECC-1	luminal epithelium:	n/a
26	chr1:103399388-103399438	CMK	blood:	n/a
27	chr1:103399388-103399438	HRCEpiC	kidney:	n/a
28	chr1:103399388-103399438	NHBE	bronchial:	n/a
29	chr1:103399388-103399438	HL-60	blood:	n/a
30	chr1:103399388-103399438	BJ	skin:	n/a
31	chr1:103399388-103399438	U87	brain:	n/a
32	chr1:103399388-103399438	MCF-7	breast:	n/a
33	chr1:103399388-103399438	SKMC	muscle:	n/a
34	chr1:103399388-103399438	Caco-2	colon:	n/a
35	chr1:103399388-103399438	HepG2	liver:	n/a
36	chr1:103399388-103399438	HRE	kidney:	n/a
37	chr1:103399388-103399438	T-47D	breast:	n/a
38	chr1:103399388-103399438	HAEpiC	amniotic membrane:	n/a
39	chr1:103399388-103399438	HCM	heart:	n/a
40	chr1:103399388-103399438	NHDF-neo	bronchial:	n/a
41	chr1:103399388-103399438	HMEC	breast:	n/a
42	chr1:103399388-103399438	HUVEC	blood vessel:	n/a
43	chr1:103399388-103399438	AG09309	skin:	n/a
44	chr1:103399388-103399438	AG04449	skin:	fetal
45	chr1:103399388-103399438	GM12891	blood:	n/a
46	chr1:103399388-103399438	SK-N-MC	brain:	n/a
47	chr1:103399388-103399438	K562	blood:	n/a
48	chr1:103399388-103399438	SK-N-SH	brain:	n/a
49	chr1:103399388-103399438	AoSMC	blood vessel:	n/a
50	chr1:103399388-103399438	HNPCEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:103303886..103305574-chr1:103404633..103406434,2	MCF-7	breast:
2	chr1:103435891..103438484-chr1:103439465..103441994,2	K562	blood:
3	chr1:103426177..103428144-chr1:103433364..103435643,2	K562	blood:
4	chr1:103259174..103259873-chr1:103435676..103436665,2	MCF-7	breast:
5	chr1:103435891..103438484-chr1:103439465..103441994,2	K562	blood:
6	chr1:103426177..103428144-chr1:103433364..103435643,2	K562	blood:
7	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: 2929 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:2929 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1241169	chr1:103384610-103384611	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs143671723	chr1:103384615-103384616	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12120318	chr1:103384635-103384636	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs2376261	chr1:103384641-103384642	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs559547507	chr1:103384694-103384695	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200552507	chr1:103384723-103384724	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143202278	chr1:103384724-103384725	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs34845201	chr1:103384725-103384726	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533444995	chr1:103384734-103384735	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551700115	chr1:103384755-103384756	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115201183	chr1:103384769-103384770	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530768096	chr1:103384815-103384816	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35990248	chr1:103384901-103384902	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs56207278	chr1:103384902-103384903	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187163190	chr1:103384914-103384915	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567619978	chr1:103384969-103384970	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535155186	chr1:103384980-103384981	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553989275	chr1:103385065-103385066	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191661592	chr1:103385071-103385072	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183811468	chr1:103385101-103385102	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187433858	chr1:103385157-103385158	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576308104	chr1:103385158-103385159	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543012800	chr1:103385191-103385192	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs199794096	chr1:103385291-103385292	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192848068	chr1:103385295-103385296	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2783563	chr1:103385312-103385313	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs368778513	chr1:103385343-103385344	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540772705	chr1:103385344-103385345	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569018744	chr1:103385356-103385357	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114096223	chr1:103385372-103385373	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs993471	chr1:103385373-103385374	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs116464574	chr1:103385400-103385401	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs74108099	chr1:103385430-103385431	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531252263	chr1:103385444-103385445	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147192008	chr1:103385447-103385448	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567680218	chr1:103385468-103385469	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534256170	chr1:103385500-103385501	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547074843	chr1:103385522-103385523	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571771726	chr1:103385531-103385532	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539616225	chr1:103385538-103385539	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551614447	chr1:103385634-103385635	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11801437	chr1:103385653-103385654	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs190326807	chr1:103385697-103385698	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181060450	chr1:103385758-103385759	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375730571	chr1:103385759-103385760	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370929718	chr1:103385760-103385761	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571200623	chr1:103385772-103385773	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs538649207	chr1:103385782-103385783	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573624795	chr1:103385784-103385785	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs140614884	chr1:103385785-103385786	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	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:204 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103345600-103385600	Weak transcription	HSMMtube	muscle
2	chr1:103352600-103403200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:103363800-103385400	Weak transcription	NH-A	brain
4	chr1:103369600-103498600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:103371200-103385000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:103376000-103385800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:103378800-103400000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:103380000-103399000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:103380800-103393000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:103381200-103399400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:103381400-103385800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:103382200-103393000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr1:103384400-103385800	Enhancers	HSMM	muscle
14	chr1:103384400-103386200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr1:103384400-103386200	Enhancers	Osteobl	bone
16	chr1:103384400-103387400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:103384600-103385200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:103384600-103386200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:103385000-103387000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:103385200-103386000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:103385400-103385600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:103385400-103386000	Enhancers	NH-A	brain
23	chr1:103385600-103385800	Enhancers	HSMMtube	muscle
24	chr1:103385600-103386000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:103385800-103386000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:103385800-103388800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:103385800-103401000	Weak transcription	HSMM	muscle
28	chr1:103386000-103386200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:103386000-103407000	Weak transcription	NH-A	brain
30	chr1:103386200-103393000	Weak transcription	Osteobl	bone
31	chr1:103386200-103399600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:103386200-103482000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:103387000-103394400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:103387400-103392800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:103388800-103392800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:103392800-103394200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:103392800-103394200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:103393000-103393400	Active TSS	Osteobl	bone
39	chr1:103393000-103393600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:103393000-103394200	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr1:103393400-103393600	Flanking Active TSS	Osteobl	bone
42	chr1:103393600-103399200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:103394200-103399000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:103394200-103399000	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr1:103394200-103399000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:103394400-103395000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:103395000-103395200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:103395200-103397800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:103397800-103399400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr1:103397800-103414200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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