Variant report

Variant	esv3380038
Chromosome Location	chr3:49506748-49508796
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:593)
CpG islands
(count:489)
Chromatin interactive
region (count:28)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:593 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:49508127-49508140	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:49507921-49507987	K562	blood:	n/a	n/a
3	ARID3A	chr3:49507229-49507663	K562	blood:	n/a	n/a
4	ATF2	chr3:49507039-49507498	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr3:49506787-49507344	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr3:49506859-49507457	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCL3	chr3:49507111-49507464	A549	lung:	n/a	n/a
8	BCLAF1	chr3:49507220-49508257	GM12878	blood:	n/a	chr3:49507529-49507542 chr3:49507531-49507544
9	BHLHE40	chr3:49507265-49508115	K562	blood:	n/a	chr3:49507920-49507936 chr3:49507598-49507614
10	BHLHE40	chr3:49507202-49507815	HepG2	liver:	n/a	chr3:49507598-49507614
11	BHLHE40	chr3:49507119-49508162	GM12878	blood:	n/a	chr3:49507920-49507936 chr3:49507598-49507614
12	BRCA1	chr3:49507921-49507954	HepG2	liver:	n/a	n/a
13	BRCA1	chr3:49506988-49507393	H1-hESC	embryonic stem cell:	n/a	n/a
14	BRCA1	chr3:49506884-49507757	Hela-S3	cervix:	n/a	n/a
15	BRCA1	chr3:49507195-49507387	HepG2	liver:	n/a	n/a
16	CBX3	chr3:49507754-49508255	K562	blood:	n/a	n/a
17	CCNT2	chr3:49507283-49508340	K562	blood:	n/a	chr3:49507353-49507362
18	CEBPB	chr3:49507475-49507767	HepG2	liver:	n/a	chr3:49507491-49507499
19	CEBPB	chr3:49506379-49508231	Hela-S3	cervix:	n/a	chr3:49507491-49507499
20	CEBPB	chr3:49507151-49507483	GM12878	blood:	n/a	n/a
21	CEBPB	chr3:49506788-49507351	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr3:49507520-49507716	IMR90	lung:	n/a	n/a
23	CEBPD	chr3:49507006-49508138	HepG2	liver:	n/a	n/a
24	CHD1	chr3:49506945-49508260	GM12878	blood:	n/a	n/a
25	CHD1	chr3:49507009-49507283	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD1	chr3:49508478-49508783	GM12878	blood:	n/a	n/a
27	CHD1	chr3:49508285-49508485	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD2	chr3:49506826-49508138	Hela-S3	cervix:	n/a	n/a
29	CHD2	chr3:49506965-49508193	GM12878	blood:	n/a	n/a
30	CHD2	chr3:49507322-49507451	HepG2	liver:	n/a	n/a
31	CHD2	chr3:49506968-49507072	HepG2	liver:	n/a	n/a
32	CHD2	chr3:49507748-49507975	HepG2	liver:	n/a	n/a
33	CHD2	chr3:49507126-49507772	K562	blood:	n/a	n/a
34	CHD2	chr3:49506858-49507971	H1-hESC	embryonic stem cell:	n/a	n/a
35	CREB1	chr3:49507077-49508289	GM12878	blood:	n/a	n/a
36	CREB1	chr3:49506478-49508467	HepG2	liver:	n/a	n/a
37	CREB1	chr3:49507038-49507937	H1-hESC	embryonic stem cell:	n/a	n/a
38	CREB1	chr3:49506796-49508185	H1-hESC	embryonic stem cell:	n/a	n/a
39	CREB1	chr3:49506770-49508199	A549	lung:	n/a	n/a
40	CTBP2	chr3:49507721-49508261	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr3:49508180-49508330	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr3:49508180-49508330	SAEC	small airway:	n/a	n/a
43	CTCF	chr3:49508380-49508530	GM12868	blood:	n/a	n/a
44	CTCF	chr3:49508264-49508267	Spleen_OC	spleen:	n/a	n/a
45	CTCF	chr3:49508120-49508270	NHDF-neo	bronchial:	n/a	chr3:49508177-49508190
46	CTCF	chr3:49508212-49508262	Spleen_OC	spleen:	n/a	n/a
47	CTCF	chr3:49508160-49508310	HBMEC	blood vessel:	n/a	chr3:49508177-49508190
48	CTCF	chr3:49508140-49508290	GM12865	blood:	n/a	chr3:49508177-49508190
49	CTCF	chr3:49506720-49506870	NHDF-neo	bronchial:	n/a	n/a
50	CTCF	chr3:49508640-49508790	GM12864	blood:	n/a	n/a

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:49507844-49507894	AG10803	skin:	n/a
2	chr3:49507844-49507894	AG10803	skin:	n/a
3	chr3:49507186-49507236	HEK293	kidney:	embryo
4	chr3:49507266-49507316	NHBE	bronchial:	n/a
5	chr3:49507385-49507435	PANC-1	pancreas:	n/a
6	chr3:49507844-49507894	SK-N-SH	brain:	n/a
7	chr3:49507186-49507236	HCT-116	colon:	n/a
8	chr3:49507186-49507236	MCF-7	breast:	n/a
9	chr3:49507291-49507341	HUVEC	blood vessel:	n/a
10	chr3:49507478-49507528	CMK	blood:	n/a
11	chr3:49508289-49508339	RPTEC	kidney:	n/a
12	chr3:49507266-49507316	SAEC	small airway:	n/a
13	chr3:49507186-49507236	ovcar-3	ovarian:	n/a
14	chr3:49507545-49507595	MCF-7	breast:	n/a
15	chr3:49507266-49507316	SK-N-SH	brain:	n/a
16	chr3:49507385-49507435	AG04449	skin:	fetal
17	chr3:49507385-49507435	BE2_C	brain:	n/a
18	chr3:49507478-49507528	SK-N-SH_RA	brain:	n/a
19	chr3:49507385-49507435	HEK293	kidney:	embryo
20	chr3:49507266-49507316	AG09309	skin:	n/a
21	chr3:49507291-49507341	HEEpiC	esophagus:	n/a
22	chr3:49507478-49507528	H1-hESC	embryonic stem cell:	embryo
23	chr3:49508289-49508339	AG04449	skin:	fetal
24	chr3:49507291-49507341	U87	brain:	n/a
25	chr3:49508289-49508339	ovcar-3	ovarian:	n/a
26	chr3:49507266-49507316	ProgFib	skin:	n/a
27	chr3:49507266-49507316	GM06990	blood:	n/a
28	chr3:49507385-49507435	HL-60	blood:	n/a
29	chr3:49507291-49507341	HL-60	blood:	n/a
30	chr3:49507266-49507316	PrEC	prostate:	n/a
31	chr3:49508289-49508339	GM12891	blood:	n/a
32	chr3:49507545-49507595	HCM	heart:	n/a
33	chr3:49507266-49507316	HUVEC	blood vessel:	n/a
34	chr3:49507844-49507894	BE2_C	brain:	n/a
35	chr3:49507545-49507595	SKMC	muscle:	n/a
36	chr3:49507478-49507528	NHDF-neo	bronchial:	n/a
37	chr3:49507385-49507435	AG09309	skin:	n/a
38	chr3:49507844-49507894	HRCEpiC	kidney:	n/a
39	chr3:49507291-49507341	HCF	heart:	n/a
40	chr3:49507545-49507595	Hela-S3	cervix:	n/a
41	chr3:49508289-49508339	LNCaP	prostate:	n/a
42	chr3:49507266-49507316	NT2-D1	testis:	n/a
43	chr3:49507186-49507236	GM06990	blood:	n/a
44	chr3:49507545-49507595	HRPEpiC	eye:	n/a
45	chr3:49508289-49508339	GM12892	blood:	n/a
46	chr3:49507186-49507236	RPTEC	kidney:	n/a
47	chr3:49507844-49507894	GM12892	blood:	n/a
48	chr3:49507545-49507595	NHBE	bronchial:	n/a
49	chr3:49507385-49507435	Hela-S3	cervix:	n/a
50	chr3:49507186-49507236	HEEpiC	esophagus:	n/a

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:49506481..49509131-chr3:49546764..49549304,2	MCF-7	breast:
2	chr3:49503012..49504721-chr3:49506646..49509185,2	MCF-7	breast:
3	chr16:68056858..68057446-chr3:49507615..49508193,2	NB4	blood:
4	chr3:49447402..49451449-chr3:49505916..49509646,7	K562	blood:
5	chr3:49460325..49461920-chr3:49506460..49509220,2	MCF-7	breast:
6	chr3:49376524..49378988-chr3:49507303..49509521,2	MCF-7	breast:
7	chr3:49507200..49507717-chr5:65440276..65440998,2	Hela-S3	cervix:
8	chr3:49501861..49505109-chr3:49505439..49508808,5	K562	blood:
9	chr16:30536975..30539864-chr3:49506980..49509217,2	MCF-7	breast:
10	chr3:49506879..49507449-chr7:45018883..45019516,2	Hela-S3	cervix:
11	chr3:49506988..49509379-chr3:49529279..49532110,2	MCF-7	breast:
12	chr3:49507938..49509712-chr3:49512685..49515016,2	K562	blood:
13	chr3:49506494..49510419-chr3:49709515..49713189,4	MCF-7	breast:
14	chr3:49507518..49508282-chr5:43515171..43515703,2	Hela-S3	cervix:
15	chr3:49130007..49132020-chr3:49507888..49509693,2	K562	blood:
16	chr3:49448736..49451146-chr3:49507489..49509395,2	MCF-7	breast:
17	chr3:49448236..49450769-chr3:49505936..49509558,3	MCF-7	breast:
18	chr3:49447402..49452044-chr3:49506038..49509646,9	K562	blood:
19	chr3:49505441..49508480-chr3:49710122..49713377,5	MCF-7	breast:
20	chr3:49065352..49067075-chr3:49506284..49508355,2	K562	blood:
21	chr3:49507792..49509395-chr3:49538517..49540372,2	MCF-7	breast:
22	chr3:49507449..49508233-chr9:131940290..131940960,2	Hela-S3	cervix:
23	chr3:49056423..49060378-chr3:49506507..49510634,4	K562	blood:
24	chr3:49508269..49511222-chr3:49551619..49554342,2	K562	blood:
25	chr3:49506444..49509653-chr3:49710909..49714606,3	K562	blood:
26	chr3:49043383..49045852-chr3:49505855..49507402,2	MCF-7	breast:
27	chr3:49455358..49458192-chr3:49507443..49509538,2	MCF-7	breast:
28	chr3:49507807..49509484-chr3:49555798..49559257,3	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DAG1-1	chr3:49507722-49507866	NONHSAT089697
2	lnc-DAG1-1	chr3:49507787-49507866	NONHSAT089700
3	lnc-DAG1-1	chr3:49507735-49507866	NONHSAT089698

No data

Variant related genes	Relation type
DAG1	TF binding region
RNA5SP130	TF binding region
DAG1	CpG island
RNA5SP130	CpG island
ENSG00000188483	chromatin interactions
ENSG00000153914	chromatin interactions
ENSG00000248240	chromatin interactions
ENSG00000067560	chromatin interactions
ENSG00000272434	chromatin interactions
ENSG00000253744	chromatin interactions
ENSG00000145022	chromatin interactions
ENSG00000164062	chromatin interactions
ENSG00000169957	chromatin interactions
ENSG00000235261	chromatin interactions
ENSG00000178057	chromatin interactions
ENSG00000198218	chromatin interactions
ENSG00000199032	chromatin interactions
ENSG00000172244	chromatin interactions
ENSG00000173402	chromatin interactions
ENSG00000178149	chromatin interactions
ENSG00000167264	chromatin interactions
ENSG00000178252	chromatin interactions
ENSG00000207605	chromatin interactions
ENSG00000114316	chromatin interactions
ENSG00000201301	chromatin interactions
ENSG00000145020	chromatin interactions
ENSG00000178035	chromatin interactions

Extended variants
information (count: 42 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34653951	chr3:49506806-49506807	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
2	rs537587017	chr3:49506810-49506811	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
3	rs9860055	chr3:49506900-49506901	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs142658338	chr3:49506917-49506918	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
5	rs556026576	chr3:49506949-49506950	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
6	rs573767415	chr3:49506981-49506982	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
7	rs542074164	chr3:49506988-49506989	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
8	rs77012634	chr3:49507020-49507021	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
9	rs150568866	chr3:49507030-49507031	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
10	rs577568671	chr3:49507084-49507085	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
11	rs545248266	chr3:49507159-49507160	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
12	rs545326373	chr3:49507193-49507194	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
13	rs139896371	chr3:49507204-49507205	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
14	rs183225398	chr3:49507322-49507323	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
15	rs542395993	chr3:49507409-49507410	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
16	rs560787446	chr3:49507445-49507446	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
17	rs529343319	chr3:49507469-49507470	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
18	rs4855840	chr3:49507512-49507513	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
19	rs562858604	chr3:49507561-49507562	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
20	rs533186351	chr3:49507569-49507570	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
21	rs552020690	chr3:49507604-49507605	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
22	rs567150658	chr3:49507605-49507606	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
23	rs187508379	chr3:49507668-49507669	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
24	rs549592555	chr3:49507669-49507670	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
25	rs567908415	chr3:49507754-49507755	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
26	rs192870544	chr3:49507760-49507761	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
27	rs4855839	chr3:49507847-49507848	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs577533019	chr3:49508057-49508058	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
29	rs538278341	chr3:49508104-49508105	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
30	rs553384753	chr3:49508107-49508108	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
31	rs183558916	chr3:49508218-49508219	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
32	rs28364662	chr3:49508251-49508252	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
33	rs560702000	chr3:49508316-49508317	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
34	rs576164984	chr3:49508358-49508359	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
35	rs533297387	chr3:49508376-49508377	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
36	rs544656575	chr3:49508385-49508386	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
37	rs375782190	chr3:49508535-49508536	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
38	rs562861388	chr3:49508653-49508654	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
39	rs188043027	chr3:49508687-49508688	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
40	rs543159563	chr3:49508692-49508693	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
41	rs373403600	chr3:49508711-49508712	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
42	rs545059877	chr3:49508713-49508714	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medullary thyroid carcinoma	18765511	CNVD
abnormal development	18461090	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:420 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49502600-49506800	Enhancers	Fetal Heart	heart
2	chr3:49503600-49507200	Weak transcription	Spleen	Spleen
3	chr3:49504000-49507000	Weak transcription	Small Intestine	intestine
4	chr3:49504800-49506800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:49505600-49507000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:49505600-49507000	Enhancers	Left Ventricle	heart
7	chr3:49505800-49507000	Enhancers	Stomach Mucosa	stomach
8	chr3:49506000-49506800	Enhancers	Fetal Stomach	stomach
9	chr3:49506000-49507200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:49506000-49507400	Flanking Active TSS	Hela-S3	cervix
11	chr3:49506200-49507400	Flanking Active TSS	Placenta	Placenta
12	chr3:49506200-49507400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr3:49506400-49506800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr3:49506400-49506800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr3:49506400-49506800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr3:49506400-49506800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:49506400-49506800	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr3:49506400-49506800	Enhancers	Liver	Liver
19	chr3:49506400-49506800	Enhancers	Brain Cingulate Gyrus	brain
20	chr3:49506400-49506800	Enhancers	Brain Germinal Matrix	brain
21	chr3:49506400-49506800	Enhancers	Gastric	stomach
22	chr3:49506400-49506800	Enhancers	Right Atrium	heart
23	chr3:49506400-49507000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr3:49506400-49507000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:49506400-49507000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr3:49506400-49507000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr3:49506400-49507000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr3:49506400-49507000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr3:49506400-49507000	Enhancers	Fetal Intestine Large	intestine
30	chr3:49506400-49507000	Enhancers	Fetal Thymus	thymus
31	chr3:49506400-49507000	Enhancers	Lung	lung
32	chr3:49506400-49507000	Enhancers	Placenta Amnion	Placenta Amnion
33	chr3:49506400-49507000	Flanking Active TSS	HepG2	liver
34	chr3:49506400-49507000	Enhancers	HUVEC	blood vessel
35	chr3:49506400-49507200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:49506400-49507200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr3:49506400-49507200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr3:49506400-49507200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr3:49506400-49507200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
40	chr3:49506400-49507200	Flanking Active TSS	Colon Smooth Muscle	Colon
41	chr3:49506400-49507400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr3:49506400-49507400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr3:49506400-49507400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr3:49506400-49507400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr3:49506400-49507400	Flanking Active TSS	Colonic Mucosa	Colon
46	chr3:49506400-49507400	Flanking Active TSS	Rectal Smooth Muscle	rectum
47	chr3:49506400-49507400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr3:49506400-49507400	Flanking Active TSS	HSMMtube	muscle
49	chr3:49506400-49507600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr3:49506400-49507600	Flanking Active TSS	Stomach Smooth Muscle	stomach

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