Variant report

Variant	nsv871916
Chromosome Location	chr1:95143999-95189230
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:690)
CpG islands
(count:366)
Chromatin interactive
region (count:16)
LncRNA
region (count:27)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:690 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:95163278-95164990	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:95179164-95179662	HepG2	liver:	n/a	n/a
3	ATF2	chr1:95186678-95187285	GM12878	blood:	n/a	n/a
4	ATF2	chr1:95154249-95154715	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr1:95185839-95186400	GM12878	blood:	n/a	n/a
6	ATF2	chr1:95154094-95154593	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr1:95186774-95187202	GM12878	blood:	n/a	n/a
8	BATF	chr1:95185860-95186289	GM12878	blood:	n/a	n/a
9	BATF	chr1:95186813-95187117	GM12878	blood:	n/a	n/a
10	BCL11A	chr1:95186837-95187108	GM12878	blood:	n/a	n/a
11	BCL11A	chr1:95185950-95186259	GM12878	blood:	n/a	n/a
12	BCL11A	chr1:95186839-95187098	GM12878	blood:	n/a	n/a
13	BCLAF1	chr1:95185858-95187250	GM12878	blood:	n/a	n/a
14	BCLAF1	chr1:95185907-95186323	GM12878	blood:	n/a	n/a
15	BHLHE40	chr1:95179320-95179573	GM12878	blood:	n/a	n/a
16	BHLHE40	chr1:95186807-95187205	GM12878	blood:	n/a	n/a
17	BHLHE40	chr1:95185935-95186301	GM12878	blood:	n/a	n/a
18	BHLHE40	chr1:95179365-95179560	K562	blood:	n/a	n/a
19	BRCA1	chr1:95179090-95179726	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr1:95158752-95158847	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr1:95179080-95179742	A549	lung:	n/a	n/a
22	CEBPB	chr1:95179268-95179562	K562	blood:	n/a	n/a
23	CEBPB	chr1:95164339-95164865	HepG2	liver:	n/a	n/a
24	CEBPB	chr1:95178787-95179888	HCT-116	colon:	n/a	n/a
25	CEBPB	chr1:95179219-95179669	IMR90	lung:	n/a	n/a
26	CEBPB	chr1:95163958-95164765	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr1:95148401-95148713	IMR90	lung:	n/a	chr1:95148548-95148559
28	CEBPB	chr1:95148455-95148686	Hela-S3	cervix:	n/a	chr1:95148548-95148559
29	CEBPB	chr1:95143729-95144065	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr1:95148526-95148547	HepG2	liver:	n/a	n/a
31	CEBPB	chr1:95179209-95179570	K562	blood:	n/a	n/a
32	CEBPB	chr1:95179217-95179667	HepG2	liver:	n/a	n/a
33	CEBPB	chr1:95179146-95179680	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr1:95179125-95179675	MCF-7	breast:	n/a	n/a
35	CEBPB	chr1:95179206-95179630	ECC-1	luminal epithelium:	n/a	n/a
36	CEBPB	chr1:95179266-95179547	HepG2	liver:	n/a	n/a
37	CEBPB	chr1:95182533-95182874	IMR90	lung:	n/a	chr1:95182706-95182717 chr1:95182705-95182718 chr1:95182705-95182716
38	CEBPB	chr1:95166348-95166496	HepG2	liver:	n/a	chr1:95166376-95166387
39	CEBPB	chr1:95179225-95179611	A549	lung:	n/a	n/a
40	CEBPB	chr1:95171496-95171527	HepG2	liver:	n/a	n/a
41	CEBPB	chr1:95175700-95175996	Hela-S3	cervix:	n/a	n/a
42	CEBPB	chr1:95179214-95179660	A549	lung:	n/a	n/a
43	CEBPB	chr1:95152451-95152699	HepG2	liver:	n/a	n/a
44	CEBPB	chr1:95179296-95179550	HepG2	liver:	n/a	n/a
45	CEBPB	chr1:95179028-95179831	HCT-116	colon:	n/a	n/a
46	CEBPB	chr1:95182561-95182802	HepG2	liver:	n/a	chr1:95182706-95182717 chr1:95182705-95182718 chr1:95182705-95182716
47	CEBPB	chr1:95164329-95164853	A549	lung:	n/a	n/a
48	CEBPB	chr1:95155506-95155922	IMR90	lung:	n/a	n/a
49	CEBPB	chr1:95179231-95179615	HepG2	liver:	n/a	n/a
50	CEBPB	chr1:95179251-95179653	MCF-7	breast:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:95173050-95173100	HRE	kidney:	n/a
2	chr1:95155557-95155607	BE2_C	brain:	n/a
3	chr1:95167783-95167833	NT2-D1	testis:	n/a
4	chr1:95167783-95167833	AG10803	skin:	n/a
5	chr1:95149580-95149630	ProgFib	skin:	n/a
6	chr1:95155557-95155607	BJ	skin:	n/a
7	chr1:95149580-95149630	NHDF-neo	bronchial:	n/a
8	chr1:95173050-95173100	HMEC	breast:	n/a
9	chr1:95149580-95149630	Hela-S3	cervix:	n/a
10	chr1:95179425-95179475	HCPEpiC	choroid plexus:	n/a
11	chr1:95155557-95155607	HAEpiC	amniotic membrane:	n/a
12	chr1:95167783-95167833	AG04450	lung:	fetal
13	chr1:95155557-95155607	NT2-D1	testis:	n/a
14	chr1:95167783-95167833	MCF-7	breast:	n/a
15	chr1:95167783-95167833	Caco-2	colon:	n/a
16	chr1:95179425-95179475	IMR90	lung:	fetal
17	chr1:95149580-95149630	AoSMC	blood vessel:	n/a
18	chr1:95173050-95173100	A549	lung:	n/a
19	chr1:95155557-95155607	Hepatocyte	liver:	n/a
20	chr1:95155557-95155607	PrEC	prostate:	n/a
21	chr1:95155557-95155607	AG04450	lung:	fetal
22	chr1:95163986-95164036	HMEC	breast:	n/a
23	chr1:95167783-95167833	NHDF-neo	bronchial:	n/a
24	chr1:95179425-95179475	AG04449	skin:	fetal
25	chr1:95167783-95167833	GM06990	blood:	n/a
26	chr1:95155557-95155607	PFSK-1	brain:	n/a
27	chr1:95179425-95179475	HRCEpiC	kidney:	n/a
28	chr1:95163986-95164036	AG09319	gingival:	n/a
29	chr1:95163986-95164036	HCM	heart:	n/a
30	chr1:95167783-95167833	PANC-1	pancreas:	n/a
31	chr1:95167783-95167833	NB4	blood:	n/a
32	chr1:95179425-95179475	MCF-7	breast:	n/a
33	chr1:95167783-95167833	HRE	kidney:	n/a
34	chr1:95173050-95173100	HUVEC	blood vessel:	n/a
35	chr1:95163986-95164036	GM06990	blood:	n/a
36	chr1:95167783-95167833	HUVEC	blood vessel:	n/a
37	chr1:95163986-95164036	ECC-1	luminal epithelium:	n/a
38	chr1:95173050-95173100	HCPEpiC	choroid plexus:	n/a
39	chr1:95179425-95179475	SKMC	muscle:	n/a
40	chr1:95167783-95167833	ECC-1	luminal epithelium:	n/a
41	chr1:95155557-95155607	HCPEpiC	choroid plexus:	n/a
42	chr1:95179425-95179475	ECC-1	luminal epithelium:	n/a
43	chr1:95179425-95179475	GM19239	blood:	n/a
44	chr1:95149580-95149630	ECC-1	luminal epithelium:	n/a
45	chr1:95155557-95155607	LNCaP	prostate:	n/a
46	chr1:95167783-95167833	HCM	heart:	n/a
47	chr1:95179425-95179475	RPTEC	kidney:	n/a
48	chr1:95149580-95149630	BE2_C	brain:	n/a
49	chr1:95173050-95173100	HCM	heart:	n/a
50	chr1:95167783-95167833	AG04449	skin:	fetal

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:95147936..95149911-chr1:95157813..95160581,2	K562	blood:
2	chr1:95145448..95146125-chr1:113615023..113615898,2	K562	blood:
3	chr1:95168507..95171353-chr1:95175689..95177754,2	K562	blood:
4	chr1:95177526..95179943-chr1:95182751..95185160,2	K562	blood:
5	chr1:95116283..95118037-chr1:95153158..95155389,2	K562	blood:
6	chr1:95174355..95177199-chr1:95178886..95181211,2	K562	blood:
7	chr1:95134967..95137782-chr1:95144953..95147356,2	K562	blood:
8	chr1:95135759..95138517-chr1:95142176..95146453,3	K562	blood:
9	chr1:95177526..95179943-chr1:95182751..95185160,2	K562	blood:
10	chr1:95158375..95159264-chr1:95267288..95268011,2	MCF-7	breast:
11	chr1:95187400..95190207-chr1:95191116..95193484,2	MCF-7	breast:
12	chr1:95147936..95149911-chr1:95157813..95160581,2	K562	blood:
13	chr1:95174355..95177199-chr1:95178886..95181211,2	K562	blood:
14	chr1:95143459..95146021-chr1:95146335..95147850,2	K562	blood:
15	chr1:95143459..95146021-chr1:95146335..95147850,2	K562	blood:
16	chr1:95168507..95171353-chr1:95175689..95177754,2	K562	blood:

(count:27 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC44A3-2	chr1:95153449-95153875	XLOC_000303
2	lnc-F3-2	chr1:95144981-95145163	NONHSAT004613
3	lnc-F3-2	chr1:95145136-95145163	ENSG00000224081.3
4	lnc-F3-2	chr1:95144981-95145163	NONHSAT004609
5	lnc-SLC44A3-2	chr1:95153449-95155440	XLOC_000303
6	lnc-CNN3-3	chr1:95144981-95145163	ENSG00000224081.2
7	lnc-SLC44A3-3	chr1:95166172-95166546	refGeneNc_4335_NR_033998
8	lnc-CNN3-3	chr1:95144981-95145163	ENSG00000224081.2
9	lnc-SLC44A3-2	chr1:95148857-95149176	XLOC_000303
10	lnc-F3-2	chr1:95180324-95180858	NONHSAT004613
11	lnc-SLC44A3-2	chr1:95143531-95144178	NONHSAT004611
12	lnc-CNN3-3	chr1:95144981-95145163	ENSG00000224081.2
13	lnc-SLC44A3-2	chr1:95149856-95150619	XLOC_000303
14	lnc-CNN3-3	chr1:95170995-95171113	ENSG00000224081.2
15	lnc-F3-2	chr1:95144981-95145163	NONHSAT004608
16	lnc-SLC44A3-2	chr1:95153449-95153875	XLOC_000303
17	lnc-F3-2	chr1:95144981-95145163	NONHSAT004607
18	lnc-CNN3-3	chr1:95170995-95171113	ENSG00000224081.2
19	lnc-F3-2	chr1:95181138-95181467	NONHSAT004613
20	lnc-SLC44A3-2	chr1:95149016-95149176	XLOC_000303
21	lnc-F3-2	chr1:95170995-95171113	ENSG00000224081.3
22	lnc-CNN3-3	chr1:95144981-95145163	ENSG00000224081.2
23	lnc-F3-2	chr1:95170995-95171095	NONHSAT004607
24	lnc-CNN3-3	chr1:95144981-95145163	ENSG00000224081.2
25	lnc-SLC44A3-2	chr1:95144981-95145163	NONHSAT004611
26	lnc-SLC44A3-3	chr1:95170016-95170129	refGeneNc_4335_NR_033998
27	lnc-CNN3-3	chr1:95170995-95171113	ENSG00000224081.2

No data

Variant related genes	Relation type
PGBD4P7	TF binding region
PGBD4P7	CpG island
ENSG00000232857	chromatin interactions
ENSG00000238198	chromatin interactions
ENSG00000198799	chromatin interactions
SPTLC1	miRNA target sites
FUBP1	miRNA target sites
FUBP3	miRNA target sites

Extended variants
information (count: 1882 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1882 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11165211	chr1:95143999-95144000	Weak transcription Enhancers Genic enhancers	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs554101219	chr1:95144016-95144017	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs182365243	chr1:95144017-95144018	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs841341	chr1:95144116-95144117	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs186125000	chr1:95144156-95144157	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs77887886	chr1:95144231-95144232	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs576423084	chr1:95144264-95144265	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545216018	chr1:95144330-95144331	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565164930	chr1:95144334-95144335	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541165852	chr1:95144382-95144383	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572290097	chr1:95144408-95144409	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541365467	chr1:95144411-95144412	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561419674	chr1:95144418-95144419	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528893220	chr1:95144506-95144507	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542225075	chr1:95144519-95144520	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1146459	chr1:95144532-95144533	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs376490587	chr1:95144577-95144578	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191932581	chr1:95144592-95144593	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551487693	chr1:95144607-95144608	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148542512	chr1:95144617-95144618	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142784698	chr1:95144647-95144648	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183553901	chr1:95144648-95144649	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187445563	chr1:95144673-95144674	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536663237	chr1:95144720-95144721	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147678990	chr1:95144733-95144734	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570011175	chr1:95144751-95144752	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192291168	chr1:95144758-95144759	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs3789696	chr1:95144800-95144801	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs572349235	chr1:95144827-95144828	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541187959	chr1:95144854-95144855	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140984953	chr1:95144981-95144982	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs575004421	chr1:95145041-95145042	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs144944547	chr1:95145058-95145059	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs544072388	chr1:95145092-95145093	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs562381462	chr1:95145175-95145176	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs117208924	chr1:95145217-95145218	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs545173540	chr1:95145240-95145241	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs564928043	chr1:95145287-95145288	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs841354	chr1:95145404-95145405	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs535397221	chr1:95145433-95145434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs80237439	chr1:95145447-95145448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147923297	chr1:95145449-95145450	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs12021681	chr1:95145453-95145454	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs841355	chr1:95145467-95145468	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs183079532	chr1:95145472-95145473	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs538643795	chr1:95145485-95145486	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs558628645	chr1:95145524-95145525	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs113770162	chr1:95145600-95145601	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs4847337	chr1:95145601-95145602	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs554894106	chr1:95145602-95145603	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Gastric cancer	16891809	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:760 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95126800-95164200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:95128400-95154600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:95135000-95154400	Weak transcription	NHLF	lung
4	chr1:95135200-95144200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr1:95135400-95150400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:95138200-95148800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:95140000-95155600	Weak transcription	HSMMtube	muscle
8	chr1:95140400-95151000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:95141000-95144400	Genic enhancers	Fetal Intestine Small	intestine
10	chr1:95141000-95145200	Enhancers	Stomach Mucosa	stomach
11	chr1:95141600-95144200	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr1:95141800-95144400	Weak transcription	Gastric	stomach
13	chr1:95142200-95144200	Enhancers	Duodenum Mucosa	Duodenum
14	chr1:95142600-95144000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:95142800-95148600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:95142800-95149400	Weak transcription	Fetal Muscle Leg	muscle
17	chr1:95142800-95167800	Weak transcription	Pancreas	Pancrea
18	chr1:95143000-95151000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:95143200-95144000	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr1:95143400-95149200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:95143400-95149200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr1:95143600-95144000	Weak transcription	Fetal Intestine Large	intestine
23	chr1:95143800-95144200	Enhancers	Fetal Kidney	kidney
24	chr1:95143800-95154400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:95144000-95144600	Enhancers	Ovary	ovary
26	chr1:95144000-95144600	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr1:95144000-95144800	Enhancers	Hela-S3	cervix
28	chr1:95144000-95145200	Strong transcription	Fetal Intestine Large	intestine
29	chr1:95144000-95146400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:95144000-95147000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:95144200-95145400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr1:95144400-95144600	Strong transcription	Fetal Intestine Small	intestine
33	chr1:95144400-95144600	Enhancers	Gastric	stomach
34	chr1:95144600-95148600	Weak transcription	Fetal Intestine Small	intestine
35	chr1:95145200-95145400	Bivalent Enhancer	Osteobl	bone
36	chr1:95145200-95157200	Weak transcription	Fetal Intestine Large	intestine
37	chr1:95145200-95163600	Weak transcription	Stomach Mucosa	stomach
38	chr1:95145400-95150400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr1:95146400-95148200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:95147000-95148200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:95148200-95148800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:95148200-95148800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:95148400-95148800	Enhancers	NHDF-Ad	bronchial
44	chr1:95148600-95149600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:95148600-95153000	Strong transcription	Fetal Intestine Small	intestine
46	chr1:95148800-95150600	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr1:95148800-95152400	Weak transcription	NHDF-Ad	bronchial
48	chr1:95148800-95152600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:95148800-95154200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:95149200-95149400	Enhancers	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links