Variant report

Variant	esv3356808
Chromosome Location	chr1:239549154-239551702
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:124)
CpG islands
(count:916)
Chromatin interactive
region (count:0)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:124 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr1:239549812-239550171	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr1:239549707-239549979	H1-hESC	embryonic stem cell:	n/a	n/a
3	CHD1	chr1:239550036-239550282	H1-hESC	embryonic stem cell:	n/a	n/a
4	CHD1	chr1:239550579-239550595	H1-hESC	embryonic stem cell:	n/a	n/a
5	CHD2	chr1:239549614-239550093	H1-hESC	embryonic stem cell:	n/a	chr1:239549736-239549746
6	CTBP2	chr1:239549362-239551324	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr1:239549660-239549810	HCM	heart:	n/a	n/a
8	CTCF	chr1:239549820-239549970	NHDF-neo	bronchial:	n/a	n/a
9	CTCF	chr1:239549834-239550089	ProgFib	skin:	n/a	n/a
10	CTCF	chr1:239549880-239550030	AG04449	skin:	n/a	n/a
11	CTCF	chr1:239549800-239549950	NHDF-neo	bronchial:	n/a	n/a
12	CTCF	chr1:239549860-239550010	HRPEpiC	eye:	n/a	n/a
13	CTCF	chr1:239549880-239550030	SK-N-SH_RA	brain:	n/a	n/a
14	CTCF	chr1:239549880-239550030	HA-sp	spinal cord:	n/a	n/a
15	CTCF	chr1:239549815-239550072	A549	lung:	n/a	n/a
16	CTCF	chr1:239549880-239550030	HRPEpiC	eye:	n/a	n/a
17	CTCF	chr1:239549841-239550055	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr1:239549900-239550050	RPTEC	kidney:	n/a	n/a
19	CTCF	chr1:239549920-239550070	RPTEC	kidney:	n/a	n/a
20	CTCF	chr1:239549940-239550090	HRE	kidney:	n/a	n/a
21	CTCF	chr1:239549900-239550050	Caco-2	colon:	n/a	n/a
22	CTCF	chr1:239549897-239550023	Kidney_OC	kidney:	n/a	n/a
23	CTCF	chr1:239549760-239549910	HMEC	breast:	n/a	n/a
24	CTCF	chr1:239549860-239550010	HBMEC	blood vessel:	n/a	n/a
25	CTCF	chr1:239549894-239550055	GM19238	blood:	n/a	n/a
26	CTCF	chr1:239549860-239550010	SK-N-SH_RA	brain:	n/a	n/a
27	CTCF	chr1:239549854-239550087	Medullo	brain:	n/a	n/a
28	CTCF	chr1:239549878-239550048	LNCaP	prostate:	n/a	n/a
29	CTCF	chr1:239549900-239550050	BJ	skin:	n/a	n/a
30	CTCF	chr1:239549900-239550050	AG09309	skin:	n/a	n/a
31	CTCF	chr1:239549811-239550109	Gliobla	brain:	n/a	n/a
32	CTCF	chr1:239549860-239550010	WERI-Rb-1	eye:	n/a	n/a
33	CTCF	chr1:239550920-239551070	GM12866	blood:	n/a	n/a
34	CTCF	chr1:239549820-239549970	HMF	breast:	n/a	n/a
35	CTCF	chr1:239549860-239550010	HEK293	kidney:	n/a	n/a
36	CTCF	chr1:239549880-239550030	HMEC	breast:	n/a	n/a
37	CTCF	chr1:239549880-239550030	BE2_C	brain:	n/a	n/a
38	CTCF	chr1:239549880-239550030	HRE	kidney:	n/a	n/a
39	CTCF	chr1:239549860-239550010	Caco-2	colon:	n/a	n/a
40	CTCF	chr1:239549875-239550016	SK-N-SH_RA	brain:	n/a	n/a
41	CTCF	chr1:239549880-239550030	SAEC	small airway:	n/a	n/a
42	CTCF	chr1:239549870-239550030	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr1:239549833-239550091	Pancreas_OC	pancreas:	n/a	n/a
44	CTCF	chr1:239549860-239550010	A549	lung:	n/a	n/a
45	CTCF	chr1:239549900-239550050	HAc	cerebellar:	n/a	n/a
46	CTCF	chr1:239549911-239550003	MCF-7	breast:	n/a	n/a
47	CTCF	chr1:239549926-239550035	LNCaP	prostate:	n/a	n/a
48	CTCF	chr1:239549880-239550030	AG09309	skin:	n/a	n/a
49	CTCF	chr1:239549900-239550050	BE2_C	brain:	n/a	n/a
50	CTCF	chr1:239549958-239549976	MCF-7	breast:	n/a	n/a

(count:916 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:239549577-239549627	MCF10A-Er-Src	breast:	n/a
2	chr1:239549577-239549627	MCF10A-Er-Src	breast:	n/a
3	chr1:239551249-239551299	HAEpiC	amniotic membrane:	n/a
4	chr1:239550578-239550628	HepG2	liver:	n/a
5	chr1:239549577-239549627	AG09309	skin:	n/a
6	chr1:239551177-239551227	SK-N-SH_RA	brain:	n/a
7	chr1:239551177-239551227	AG04449	skin:	fetal
8	chr1:239549830-239549880	ECC-1	luminal epithelium:	n/a
9	chr1:239550578-239550628	U87	brain:	n/a
10	chr1:239551177-239551227	Jurkat	blood:	n/a
11	chr1:239550535-239550585	AG09319	gingival:	n/a
12	chr1:239549798-239549848	HPAEpiC	pulmonary alveolar:	n/a
13	chr1:239551177-239551227	A549	lung:	n/a
14	chr1:239551249-239551299	SK-N-SH	brain:	n/a
15	chr1:239549798-239549848	SK-N-SH	brain:	n/a
16	chr1:239550378-239550428	HRCEpiC	kidney:	n/a
17	chr1:239549577-239549627	SK-N-SH_RA	brain:	n/a
18	chr1:239550578-239550628	NH-A	brain:	n/a
19	chr1:239550578-239550628	HUVEC	blood vessel:	n/a
20	chr1:239550378-239550428	CMK	blood:	n/a
21	chr1:239551040-239551090	HRE	kidney:	n/a
22	chr1:239550283-239550333	A549	lung:	n/a
23	chr1:239551249-239551299	AG09309	skin:	n/a
24	chr1:239549600-239549650	AoSMC	blood vessel:	n/a
25	chr1:239551040-239551090	GM19239	blood:	n/a
26	chr1:239550303-239550353	H1-hESC	embryonic stem cell:	embryo
27	chr1:239550535-239550585	HRE	kidney:	n/a
28	chr1:239549853-239549903	HUVEC	blood vessel:	n/a
29	chr1:239550283-239550333	ECC-1	luminal epithelium:	n/a
30	chr1:239549830-239549880	BJ	skin:	n/a
31	chr1:239549853-239549903	LNCaP	prostate:	n/a
32	chr1:239550378-239550428	ECC-1	luminal epithelium:	n/a
33	chr1:239549853-239549903	BE2_C	brain:	n/a
34	chr1:239550535-239550585	BJ	skin:	n/a
35	chr1:239550578-239550628	MCF-7	breast:	n/a
36	chr1:239550378-239550428	HCM	heart:	n/a
37	chr1:239549600-239549650	HPAEpiC	pulmonary alveolar:	n/a
38	chr1:239550578-239550628	RPTEC	kidney:	n/a
39	chr1:239551249-239551299	HCT-116	colon:	n/a
40	chr1:239549798-239549848	NHDF-neo	bronchial:	n/a
41	chr1:239550303-239550353	HepG2	liver:	n/a
42	chr1:239550535-239550585	NB4	blood:	n/a
43	chr1:239551040-239551090	PFSK-1	brain:	n/a
44	chr1:239550378-239550428	NHDF-neo	bronchial:	n/a
45	chr1:239549798-239549848	HRPEpiC	eye:	n/a
46	chr1:239550378-239550428	HEEpiC	esophagus:	n/a
47	chr1:239550303-239550353	K562	blood:	n/a
48	chr1:239549626-239549676	SKMC	muscle:	n/a
49	chr1:239549577-239549627	GM06990	blood:	n/a
50	chr1:239550378-239550428	HCT-116	colon:	n/a

No data

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHRM3-1	chr1:239550010-239550527	NONHSAT010471
2	lnc-CHRM3-1	chr1:239550010-239550527	NONHSAT139940
3	lnc-CHRM3-1	chr1:239549865-239550527	NONHSAT010470
4	lnc-CHRM3-1	chr1:239550220-239550527	NONHSAT010472

No data

Variant related genes	Relation type
CHRM3	TF binding region
CHRM3	CpG island

Extended variants
information (count: 93 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148357402	chr1:239549160-239549161	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs367614073	chr1:239549237-239549238	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs373184859	chr1:239549238-239549239	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs71166867	chr1:239549275-239549276	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs111684458	chr1:239549277-239549278	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs538655204	chr1:239549286-239549287	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs552389466	chr1:239549291-239549292	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs192974413	chr1:239549292-239549293	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs568937466	chr1:239549296-239549297	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs537207275	chr1:239549299-239549300	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs571635675	chr1:239549312-239549313	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs555917620	chr1:239549355-239549356	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs36023018	chr1:239549367-239549368	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs143298187	chr1:239549379-239549380	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs147539763	chr1:239549385-239549386	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs10733125	chr1:239549407-239549408	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs114982377	chr1:239549522-239549523	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs115232917	chr1:239549524-239549525	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs545020802	chr1:239549535-239549536	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs563582450	chr1:239549547-239549548	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs531027704	chr1:239549598-239549599	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs137875549	chr1:239549602-239549603	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
23	rs371694362	chr1:239549612-239549613	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
24	rs143420030	chr1:239549632-239549633	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
25	rs528331365	chr1:239549655-239549656	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
26	rs375309205	chr1:239549676-239549677	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
27	rs571588993	chr1:239549678-239549679	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs113758785	chr1:239549684-239549685	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs532097822	chr1:239549691-239549692	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs182483325	chr1:239549717-239549718	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs79640090	chr1:239549738-239549739	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs536343327	chr1:239549775-239549776	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs572549454	chr1:239549803-239549804	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
34	rs4364866	chr1:239549825-239549826	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
35	rs548006699	chr1:239549887-239549888	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs567830472	chr1:239549901-239549902	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs186888898	chr1:239549987-239549988	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs534901996	chr1:239550006-239550007	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs553221301	chr1:239550011-239550012	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs78833580	chr1:239550067-239550068	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs72754648	chr1:239550124-239550125	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs191376576	chr1:239550130-239550131	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs575580162	chr1:239550151-239550152	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs543093946	chr1:239550159-239550160	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs561242949	chr1:239550243-239550244	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
46	rs573047626	chr1:239550245-239550246	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
47	rs540432352	chr1:239550249-239550250	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
48	rs117549427	chr1:239550255-239550256	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
49	rs376635904	chr1:239550269-239550270	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
50	rs550647411	chr1:239550286-239550287	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	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
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	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
Chronic lymphocytic leukemia	21546498	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
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:348 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:239548600-239549200	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr1:239548800-239549200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
3	chr1:239548800-239549400	Bivalent Enhancer	Fetal Brain Male	brain
4	chr1:239548800-239549800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:239548800-239550800	Active TSS	Rectal Smooth Muscle	rectum
6	chr1:239548800-239552400	Active TSS	Ovary	ovary
7	chr1:239548800-239553200	Active TSS	Stomach Smooth Muscle	stomach
8	chr1:239549000-239549200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
9	chr1:239549000-239549200	Enhancers	Primary hematopoietic stem cells	blood
10	chr1:239549000-239549200	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr1:239549000-239549200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
12	chr1:239549000-239549200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:239549000-239549200	Bivalent Enhancer	Fetal Heart	heart
14	chr1:239549000-239549200	Active TSS	Fetal Intestine Large	intestine
15	chr1:239549000-239549200	Bivalent Enhancer	Fetal Kidney	kidney
16	chr1:239549000-239549200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr1:239549000-239549200	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr1:239549000-239549400	Flanking Active TSS	Fetal Intestine Small	intestine
19	chr1:239549000-239549600	Bivalent Enhancer	Stomach Mucosa	stomach
20	chr1:239549000-239550400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:239549000-239550600	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr1:239549000-239551600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:239549200-239549400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
24	chr1:239549200-239549400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:239549200-239549400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:239549200-239549400	Bivalent Enhancer	Brain Germinal Matrix	brain
27	chr1:239549200-239549400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr1:239549200-239549400	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
29	chr1:239549200-239549400	Bivalent Enhancer	Fetal Lung	lung
30	chr1:239549200-239549400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
31	chr1:239549200-239549400	Bivalent/Poised TSS	Fetal Stomach	stomach
32	chr1:239549200-239549400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
33	chr1:239549200-239549400	Bivalent/Poised TSS	HMEC	breast
34	chr1:239549200-239549400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
35	chr1:239549200-239549400	Bivalent/Poised TSS	NH-A	brain
36	chr1:239549200-239549600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:239549200-239549600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
38	chr1:239549200-239549600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
39	chr1:239549200-239549600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
40	chr1:239549200-239549600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
41	chr1:239549200-239549600	Active TSS	Duodenum Mucosa	Duodenum
42	chr1:239549200-239549600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
43	chr1:239549200-239549600	Bivalent/Poised TSS	Right Ventricle	heart
44	chr1:239549200-239549800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr1:239549200-239549800	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr1:239549200-239549800	Flanking Bivalent TSS/Enh	Fetal Heart	heart
47	chr1:239549200-239549800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
48	chr1:239549200-239549800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr1:239549200-239550000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr1:239549200-239550000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links