Variant report

Variant	nsv1002595
Chromosome Location	chr1:246774036-246846548
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:497)
CpG islands
(count:855)
Chromatin interactive
region (count:53)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:497 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr1:246803049-246803274	K562	blood:	n/a	n/a
2	ATF2	chr1:246792272-246792758	GM12878	blood:	n/a	n/a
3	ATF2	chr1:246792236-246792998	GM12878	blood:	n/a	n/a
4	BATF	chr1:246793347-246793611	GM12878	blood:	n/a	n/a
5	BATF	chr1:246793253-246793608	GM12878	blood:	n/a	n/a
6	BATF	chr1:246792329-246792692	GM12878	blood:	n/a	n/a
7	BATF	chr1:246792324-246792693	GM12878	blood:	n/a	n/a
8	BCLAF1	chr1:246792278-246792798	GM12878	blood:	n/a	n/a
9	CBX3	chr1:246810392-246810814	K562	blood:	n/a	n/a
10	CCNT2	chr1:246813221-246813364	K562	blood:	n/a	n/a
11	CEBPB	chr1:246795940-246796613	IMR90	lung:	n/a	chr1:246796412-246796425 chr1:246796414-246796425 chr1:246796412-246796425 chr1:246796412-246796423
12	CEBPB	chr1:246796267-246796556	K562	blood:	n/a	chr1:246796412-246796425 chr1:246796414-246796425 chr1:246796412-246796425 chr1:246796412-246796423
13	CEBPB	chr1:246779032-246779201	K562	blood:	n/a	n/a
14	CEBPB	chr1:246810167-246810722	H1-hESC	embryonic stem cell:	n/a	chr1:246810302-246810319 chr1:246810304-246810315
15	CEBPB	chr1:246840956-246841203	HepG2	liver:	n/a	chr1:246841092-246841103
16	CEBPB	chr1:246840959-246841470	Hela-S3	cervix:	n/a	chr1:246841092-246841103
17	CEBPB	chr1:246794845-246795163	IMR90	lung:	n/a	n/a
18	CEBPB	chr1:246841004-246841227	K562	blood:	n/a	chr1:246841092-246841103
19	CEBPB	chr1:246796265-246796569	HepG2	liver:	n/a	chr1:246796412-246796425 chr1:246796414-246796425 chr1:246796412-246796425 chr1:246796412-246796423
20	CEBPB	chr1:246796228-246796590	MCF-7	breast:	n/a	chr1:246796412-246796425 chr1:246796414-246796425 chr1:246796412-246796425 chr1:246796412-246796423
21	CEBPB	chr1:246810191-246810440	HepG2	liver:	n/a	chr1:246810302-246810319 chr1:246810304-246810315
22	CEBPB	chr1:246810187-246810481	IMR90	lung:	n/a	chr1:246810302-246810319 chr1:246810304-246810315
23	CEBPB	chr1:246810151-246810454	K562	blood:	n/a	chr1:246810302-246810319 chr1:246810304-246810315
24	CEBPB	chr1:246796270-246796547	A549	lung:	n/a	chr1:246796412-246796425 chr1:246796414-246796425 chr1:246796412-246796425 chr1:246796412-246796423
25	CEBPB	chr1:246796344-246796480	H1-hESC	embryonic stem cell:	n/a	chr1:246796412-246796425 chr1:246796414-246796425 chr1:246796412-246796425 chr1:246796412-246796423
26	CEBPB	chr1:246796251-246796522	MCF-7	breast:	n/a	chr1:246796412-246796425 chr1:246796414-246796425 chr1:246796412-246796425 chr1:246796412-246796423
27	CHD2	chr1:246830022-246830030	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD2	chr1:246802297-246802351	HepG2	liver:	n/a	n/a
29	CTCF	chr1:246810427-246810790	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr1:246810520-246810670	SAEC	small airway:	n/a	n/a
31	CTCF	chr1:246810340-246810490	K562	blood:	n/a	n/a
32	CTCF	chr1:246810500-246810650	HCFaa	heart:	n/a	n/a
33	CTCF	chr1:246810533-246810634	GM19238	blood:	n/a	n/a
34	CTCF	chr1:246810460-246810610	HCM	heart:	n/a	n/a
35	CTCF	chr1:246793200-246793350	GM12864	blood:	n/a	n/a
36	CTCF	chr1:246810520-246810670	SK-N-SH_RA	brain:	n/a	n/a
37	CTCF	chr1:246810520-246810670	HFF-Myc	foreskin:	n/a	n/a
38	CTCF	chr1:246810458-246810727	MCF-7	breast:	n/a	n/a
39	CTCF	chr1:246810540-246810690	HA-sp	spinal cord:	n/a	n/a
40	CTCF	chr1:246810500-246810650	AG04450	lung:	n/a	n/a
41	CTCF	chr1:246810456-246810701	MCF-7	breast:	n/a	n/a
42	CTCF	chr1:246810520-246810670	AG10803	skin:	n/a	n/a
43	CTCF	chr1:246810500-246810650	HPAF	blood vessel:	n/a	n/a
44	CTCF	chr1:246810340-246810490	HAc	cerebellar:	n/a	n/a
45	CTCF	chr1:246810540-246810690	HEK293	kidney:	n/a	n/a
46	CTCF	chr1:246810305-246810918	SK-N-SH	brain:	n/a	n/a
47	CTCF	chr1:246845200-246845350	GM12874	blood:	n/a	n/a
48	CTCF	chr1:246810338-246810766	K562	blood:	n/a	n/a
49	CTCF	chr1:246810480-246810630	BE2_C	brain:	n/a	n/a
50	CTCF	chr1:246810600-246810750	NB4	blood:	n/a	n/a

(count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:246785611-246785661	AG09309	skin:	n/a
2	chr1:246785611-246785661	AG09309	skin:	n/a
3	chr1:246783518-246783568	HAEpiC	amniotic membrane:	n/a
4	chr1:246799336-246799386	HPAEpiC	pulmonary alveolar:	n/a
5	chr1:246798258-246798308	BE2_C	brain:	n/a
6	chr1:246831331-246831381	MCF-7	breast:	n/a
7	chr1:246783166-246783216	K562	blood:	n/a
8	chr1:246781432-246781482	Hela-S3	cervix:	n/a
9	chr1:246781432-246781482	NHBE	bronchial:	n/a
10	chr1:246783166-246783216	AG10803	skin:	n/a
11	chr1:246783166-246783216	NHDF-neo	bronchial:	n/a
12	chr1:246783904-246783954	SK-N-SH_RA	brain:	n/a
13	chr1:246799336-246799386	NT2-D1	testis:	n/a
14	chr1:246787626-246787676	HepG2	liver:	n/a
15	chr1:246783198-246783248	GM19239	blood:	n/a
16	chr1:246831331-246831381	AG10803	skin:	n/a
17	chr1:246787626-246787676	PANC-1	pancreas:	n/a
18	chr1:246798258-246798308	LNCaP	prostate:	n/a
19	chr1:246783166-246783216	HL-60	blood:	n/a
20	chr1:246831331-246831381	NT2-D1	testis:	n/a
21	chr1:246785611-246785661	NHBE	bronchial:	n/a
22	chr1:246783518-246783568	LNCaP	prostate:	n/a
23	chr1:246783904-246783954	HNPCEpiC	eye:	n/a
24	chr1:246843900-246843950	K562	blood:	n/a
25	chr1:246799582-246799632	Hela-S3	cervix:	n/a
26	chr1:246799336-246799386	PANC-1	pancreas:	n/a
27	chr1:246783518-246783568	IMR90	lung:	fetal
28	chr1:246831331-246831381	PrEC	prostate:	n/a
29	chr1:246785611-246785661	HEK293	kidney:	embryo
30	chr1:246785611-246785661	MCF10A-Er-Src	breast:	n/a
31	chr1:246810637-246810687	PrEC	prostate:	n/a
32	chr1:246785611-246785661	HMEC	breast:	n/a
33	chr1:246783518-246783568	T-47D	breast:	n/a
34	chr1:246799582-246799632	NHBE	bronchial:	n/a
35	chr1:246781432-246781482	HL-60	blood:	n/a
36	chr1:246781432-246781482	U87	brain:	n/a
37	chr1:246783904-246783954	HRE	kidney:	n/a
38	chr1:246787626-246787676	Caco-2	colon:	n/a
39	chr1:246783904-246783954	IMR90	lung:	fetal
40	chr1:246783904-246783954	GM12891	blood:	n/a
41	chr1:246787626-246787676	GM12892	blood:	n/a
42	chr1:246843900-246843950	AG10803	skin:	n/a
43	chr1:246795610-246795660	AG09309	skin:	n/a
44	chr1:246831331-246831381	HCPEpiC	choroid plexus:	n/a
45	chr1:246831331-246831381	HCM	heart:	n/a
46	chr1:246810637-246810687	PFSK-1	brain:	n/a
47	chr1:246785611-246785661	CMK	blood:	n/a
48	chr1:246831331-246831381	MCF10A-Er-Src	breast:	n/a
49	chr1:246783518-246783568	HRCEpiC	kidney:	n/a
50	chr1:246785611-246785661	NT2-D1	testis:	n/a

(count:53 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:246811207..246813895-chr1:246830093..246833035,2	K562	blood:
2	chr1:246785700..246787934-chr1:246794155..246796121,2	MCF-7	breast:
3	chr1:246834497..246836021-chr1:246836490..246838405,2	K562	blood:
4	chr1:246813415..246815262-chr1:246816849..246818678,2	K562	blood:
5	chr1:246817586..246818454-chr1:246829878..246830575,2	K562	blood:
6	chr1:246704378..246705938-chr1:246830141..246833108,2	K562	blood:
7	chr1:246722538..246724149-chr1:246820776..246822354,2	K562	blood:
8	chr1:246774160..246776210-chr1:246811520..246814004,2	K562	blood:
9	chr1:246810760..246814409-chr1:246816683..246820922,4	K562	blood:
10	chr1:246810760..246814409-chr1:246816683..246820922,4	K562	blood:
11	chr1:246805689..246809236-chr1:246811706..246814341,4	K562	blood:
12	chr1:246817586..246818454-chr1:246829878..246830575,2	K562	blood:
13	chr1:246817628..246820326-chr1:246894643..246896981,2	MCF-7	breast:
14	chr1:246833383..246835466-chr1:246835764..246838210,2	K562	blood:
15	chr1:246833383..246835466-chr1:246835764..246838210,2	K562	blood:
16	chr1:246819262..246822483-chr1:246827489..246830691,4	K562	blood:
17	chr1:246775147..246776815-chr1:246778943..246781797,2	K562	blood:
18	chr1:246842065..246844479-chr1:246852979..246855083,3	K562	blood:
19	chr1:246817289..246819425-chr1:246820924..246823201,2	MCF-7	breast:
20	chr1:246727229..246731275-chr1:246773267..246778160,5	MCF-7	breast:
21	chr1:246834497..246836021-chr1:246836490..246838405,2	K562	blood:
22	chr1:246815669..246818664-chr1:246820426..246822139,2	K562	blood:
23	chr1:246815669..246818664-chr1:246820426..246822139,2	K562	blood:
24	chr1:246803588..246807692-chr1:246815416..246819511,4	K562	blood:
25	chr1:246802416..246804121-chr1:246807056..246809856,2	K562	blood:
26	chr1:246784360..246786280-chr1:246789850..246792060,3	K562	blood:
27	chr1:246774160..246776210-chr1:246811520..246814004,2	K562	blood:
28	chr1:246272101..246273950-chr1:246817056..246818596,2	K562	blood:
29	chr1:246769755..246771548-chr1:246776267..246778089,2	K562	blood:
30	chr1:246763228..246766814-chr1:246773284..246776572,4	K562	blood:
31	chr1:246792973..246795440-chr1:246887335..246889540,2	K562	blood:
32	chr1:246775147..246776815-chr1:246778943..246781797,2	K562	blood:
33	chr1:246826840..246829651-chr1:246886042..246887576,2	MCF-7	breast:
34	chr1:246805689..246809236-chr1:246811706..246814341,4	K562	blood:
35	chr1:246784949..246787437-chr1:246795091..246797673,2	K562	blood:
36	chr1:246802416..246804121-chr1:246807056..246809856,2	K562	blood:
37	chr1:246790522..246793411-chr1:246794361..246797146,2	K562	blood:
38	chr1:246779828..246782694-chr1:246783827..246786516,2	K562	blood:
39	chr1:246784360..246786280-chr1:246789850..246792060,3	K562	blood:
40	chr1:246813415..246815262-chr1:246816849..246818678,2	K562	blood:
41	chr1:246834302..246836576-chr1:246850858..246853240,2	K562	blood:
42	chr1:246828128..246831058-chr1:246844118..246846484,2	K562	blood:
43	chr1:246803588..246807692-chr1:246815416..246819511,4	K562	blood:
44	chr1:246763228..246765698-chr1:246773126..246775909,3	K562	blood:
45	chr1:246801219..246803848-chr1:246819940..246821442,2	MCF-7	breast:
46	chr1:246811207..246813895-chr1:246830093..246833035,2	K562	blood:
47	chr1:246801219..246803848-chr1:246819940..246821442,2	MCF-7	breast:
48	chr1:246810150..246810952-chr1:246916713..246917868,5	MCF-7	breast:
49	chr1:246819262..246822483-chr1:246827489..246830691,4	K562	blood:
50	chr1:246822078..246824863-chr1:247030582..247033303,2	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TFB2M-4	chr1:246795692-246795780	NONHSAT010713
2	lnc-CNST-1	chr1:246845410-246848377	ENSG00000260698.1
3	lnc-TFB2M-1	chr1:246831384-246831638	ENSG00000245759
4	lnc-SCCPDH-3	chr1:246831385-246831658	NONHSAT010714
5	lnc-TFB2M-4	chr1:246795553-246795685	NONHSAT010713
6	lnc-CNST-1	chr1:246846453-246846487	XLOC_000642
7	lnc-TFB2M-5	chr1:246831977-246832419	NONHSAT010715
8	lnc-SCCPDH-3	chr1:246830010-246830784	NONHSAT010714
9	lnc-TFB2M-1	chr1:246830009-246830785	ENSG00000245759

No data

Variant related genes	Relation type
ENSG00000228955	TF binding region
ENSG00000260698	TF binding region
ENSG00000228955	CpG island
ENSG00000260698	CpG island
ENSG00000260698	chromatin interactions
ENSG00000162851	chromatin interactions
ENSG00000143653	chromatin interactions
ENSG00000228955	chromatin interactions
ENSG00000162852	chromatin interactions
ENSG00000235021	chromatin interactions
ACVR2A	miRNA target sites
BRD3	miRNA target sites

Extended variants
information (count: 3231 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:3231 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191381902	chr1:246774072-246774073	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs182823712	chr1:246774088-246774089	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs373408573	chr1:246774092-246774093	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs187716145	chr1:246774094-246774095	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs139141087	chr1:246774095-246774096	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs565629832	chr1:246774099-246774100	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs79442409	chr1:246774109-246774110	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs143983755	chr1:246774111-246774112	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs79219807	chr1:246774112-246774113	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs537074680	chr1:246774158-246774159	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs544136290	chr1:246774165-246774166	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs145100045	chr1:246774214-246774215	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs149099314	chr1:246774220-246774221	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs542271479	chr1:246774228-246774229	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs142175487	chr1:246774249-246774250	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs545400349	chr1:246774261-246774262	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs572379510	chr1:246774262-246774263	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs76185924	chr1:246774281-246774282	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs564505579	chr1:246774284-246774285	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs533253510	chr1:246774297-246774298	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs543783319	chr1:246774300-246774301	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs563424487	chr1:246774307-246774308	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs529087632	chr1:246774311-246774312	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs151205104	chr1:246774370-246774371	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs565658254	chr1:246774380-246774381	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs193232237	chr1:246774452-246774453	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs551081763	chr1:246774512-246774513	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs570957498	chr1:246774516-246774517	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs140275558	chr1:246774564-246774565	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs549515131	chr1:246774597-246774598	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs7539592	chr1:246774600-246774601	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs569883496	chr1:246774603-246774604	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs116116837	chr1:246774627-246774628	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs200667352	chr1:246774641-246774642	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs555958084	chr1:246774649-246774650	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs114155921	chr1:246774650-246774651	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs184802854	chr1:246774651-246774652	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs77067988	chr1:246774695-246774696	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs114875674	chr1:246774761-246774762	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs187960214	chr1:246774779-246774780	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs191964237	chr1:246774793-246774794	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs529057464	chr1:246774839-246774840	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs542435587	chr1:246774871-246774872	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs571889322	chr1:246774906-246774907	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs201671347	chr1:246774909-246774910	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs10754530	chr1:246774917-246774918	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs528170204	chr1:246775103-246775104	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs551065891	chr1:246775116-246775117	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs117982247	chr1:246775179-246775180	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs371464532	chr1:246775209-246775210	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Neuroblastoma	21899760	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	20729466	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Oral cancer	21386901	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2357 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246739000-246806200	Weak transcription	Aorta	Aorta
2	chr1:246755400-246832800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:246764200-246784200	Weak transcription	Thymus	Thymus
4	chr1:246765800-246779600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:246766200-246784200	Weak transcription	Dnd41	blood
6	chr1:246770800-246774800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr1:246770800-246775200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:246770800-246775200	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr1:246771000-246774600	Enhancers	Lung	lung
10	chr1:246771400-246774600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:246771400-246784600	Weak transcription	Fetal Stomach	stomach
12	chr1:246771600-246774400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr1:246771600-246776800	Enhancers	Colon Smooth Muscle	Colon
14	chr1:246771800-246775800	Enhancers	Adipose Nuclei	Adipose
15	chr1:246772200-246774800	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr1:246772200-246775000	Enhancers	HUVEC	blood vessel
17	chr1:246772200-246795600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:246772400-246774200	Weak transcription	Brain Anterior Caudate	brain
19	chr1:246772400-246776800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:246772400-246784600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:246772600-246774200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr1:246772600-246776400	Weak transcription	K562	blood
23	chr1:246772600-246779600	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr1:246772600-246780000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:246772600-246784000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr1:246772600-246784000	Weak transcription	Liver	Liver
27	chr1:246772600-246784000	Weak transcription	GM12878-XiMat	blood
28	chr1:246772600-246784800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:246772600-246784800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr1:246772600-246790600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:246772600-246795600	Weak transcription	HepG2	liver
32	chr1:246772800-246783800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:246772800-246783800	Weak transcription	Fetal Intestine Small	intestine
34	chr1:246772800-246784000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr1:246772800-246784000	Weak transcription	Spleen	Spleen
36	chr1:246772800-246789200	Weak transcription	Ovary	ovary
37	chr1:246773000-246774200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:246773000-246774600	Enhancers	Osteobl	bone
39	chr1:246773000-246776400	Weak transcription	A549	lung
40	chr1:246773000-246776800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:246773000-246779200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr1:246773000-246782600	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr1:246773000-246784800	Weak transcription	Fetal Muscle Leg	muscle
44	chr1:246773000-246784800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr1:246773000-246790200	Weak transcription	Small Intestine	intestine
46	chr1:246773000-246790200	Weak transcription	HSMM	muscle
47	chr1:246773000-246792400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:246773200-246774200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr1:246773200-246774200	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr1:246773200-246774400	Weak transcription	Stomach Smooth Muscle	stomach

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