Variant report

Variant	nsv430558
Chromosome Location	chr13:49914393-50059354
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1616)
CpG islands
(count:1892)
Chromatin interactive
region (count:74)
LncRNA
region (count:16)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1616 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr13:50018824-50019531	K562	blood:	n/a	n/a
2	ARID3A	chr13:50017884-50018589	HepG2	liver:	n/a	n/a
3	ARID3A	chr13:50038795-50039574	HepG2	liver:	n/a	n/a
4	ARID3A	chr13:49995639-49995842	HepG2	liver:	n/a	n/a
5	ARID3A	chr13:50040074-50041075	HepG2	liver:	n/a	n/a
6	ARID3A	chr13:50022201-50022473	K562	blood:	n/a	n/a
7	ARID3A	chr13:50018043-50018342	K562	blood:	n/a	n/a
8	ARID3A	chr13:49928927-49929184	HepG2	liver:	n/a	n/a
9	ATF1	chr13:49948735-49949011	K562	blood:	n/a	n/a
10	ATF2	chr13:50017524-50018660	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr13:50028547-50029303	GM12878	blood:	n/a	n/a
12	ATF2	chr13:50017799-50018696	GM12878	blood:	n/a	n/a
13	ATF2	chr13:50017722-50018650	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr13:50017921-50018315	GM12878	blood:	n/a	n/a
15	ATF2	chr13:50028627-50029260	GM12878	blood:	n/a	n/a
16	BACH1	chr13:49974206-49974216	K562	blood:	n/a	n/a
17	BATF	chr13:50028580-50029122	GM12878	blood:	n/a	n/a
18	BATF	chr13:50033735-50034011	GM12878	blood:	n/a	n/a
19	BATF	chr13:50033761-50033980	GM12878	blood:	n/a	n/a
20	BATF	chr13:50028595-50029091	GM12878	blood:	n/a	n/a
21	BCLAF1	chr13:50017479-50018901	GM12878	blood:	n/a	chr13:50018730-50018743
22	BCLAF1	chr13:50017854-50018762	GM12878	blood:	n/a	chr13:50018730-50018743
23	BHLHE40	chr13:50017924-50019861	GM12878	blood:	n/a	n/a
24	BHLHE40	chr13:49995589-49995906	HepG2	liver:	n/a	n/a
25	BHLHE40	chr13:49946064-49946407	HepG2	liver:	n/a	n/a
26	BHLHE40	chr13:50019167-50019537	HepG2	liver:	n/a	n/a
27	BHLHE40	chr13:49984789-49984955	GM12878	blood:	n/a	n/a
28	BHLHE40	chr13:50040050-50040053	HepG2	liver:	n/a	n/a
29	BHLHE40	chr13:50017572-50017700	HepG2	liver:	n/a	n/a
30	BHLHE40	chr13:50028754-50029257	GM12878	blood:	n/a	n/a
31	BHLHE40	chr13:50019165-50019509	A549	lung:	n/a	n/a
32	BHLHE40	chr13:50017907-50019581	K562	blood:	n/a	n/a
33	BRCA1	chr13:50017752-50018443	H1-hESC	embryonic stem cell:	n/a	n/a
34	BRCA1	chr13:50017958-50018595	HepG2	liver:	n/a	n/a
35	BRCA1	chr13:49948748-49949109	Hela-S3	cervix:	n/a	chr13:49949075-49949082
36	BRCA1	chr13:50017808-50018576	GM12878	blood:	n/a	n/a
37	BRCA1	chr13:50017797-50019617	Hela-S3	cervix:	n/a	n/a
38	CBX3	chr13:50017976-50018310	K562	blood:	n/a	n/a
39	CBX3	chr13:49978763-49979094	K562	blood:	n/a	n/a
40	CBX3	chr13:50017739-50018627	K562	blood:	n/a	n/a
41	CBX3	chr13:50037375-50037753	HCT-116	colon:	n/a	n/a
42	CBX3	chr13:49978764-49979124	K562	blood:	n/a	n/a
43	CBX3	chr13:50037345-50037712	K562	blood:	n/a	n/a
44	CBX3	chr13:50037420-50037685	K562	blood:	n/a	n/a
45	CCNT2	chr13:50018091-50019133	K562	blood:	n/a	chr13:50018752-50018761
46	CEBPB	chr13:49991266-49991550	IMR90	lung:	n/a	chr13:49991414-49991425
47	CEBPB	chr13:50011867-50012135	H1-hESC	embryonic stem cell:	n/a	chr13:50012012-50012023
48	CEBPB	chr13:49916126-49916436	IMR90	lung:	n/a	chr13:49916282-49916293
49	CEBPB	chr13:50018081-50018270	K562	blood:	n/a	n/a
50	CEBPB	chr13:49948646-49949091	Hela-S3	cervix:	n/a	n/a

(count:1892 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:49921879-49921929	HPAEpiC	pulmonary alveolar:	n/a
2	chr13:49921879-49921929	HPAEpiC	pulmonary alveolar:	n/a
3	chr13:50018355-50018405	CMK	blood:	n/a
4	chr13:50018044-50018094	PrEC	prostate:	n/a
5	chr13:49921879-49921929	AG09309	skin:	n/a
6	chr13:50018171-50018221	NT2-D1	testis:	n/a
7	chr13:49976473-49976523	HRCEpiC	kidney:	n/a
8	chr13:50014904-50014954	H1-hESC	embryonic stem cell:	embryo
9	chr13:50018514-50018564	NT2-D1	testis:	n/a
10	chr13:50018380-50018430	HAEpiC	amniotic membrane:	n/a
11	chr13:50018359-50018409	MCF-7	breast:	n/a
12	chr13:50021335-50021385	HUVEC	blood vessel:	n/a
13	chr13:50025780-50025830	GM19239	blood:	n/a
14	chr13:49975383-49975433	SAEC	small airway:	n/a
15	chr13:50018137-50018187	LNCaP	prostate:	n/a
16	chr13:50018171-50018221	ProgFib	skin:	n/a
17	chr13:49975643-49975693	CMK	blood:	n/a
18	chr13:50030794-50030844	HAEpiC	amniotic membrane:	n/a
19	chr13:50018359-50018409	H1-hESC	embryonic stem cell:	embryo
20	chr13:49990767-49990817	IMR90	lung:	fetal
21	chr13:50018352-50018402	U87	brain:	n/a
22	chr13:50030794-50030844	GM12892	blood:	n/a
23	chr13:49975383-49975433	HNPCEpiC	eye:	n/a
24	chr13:49925538-49925588	ECC-1	luminal epithelium:	n/a
25	chr13:50019081-50019131	AG10803	skin:	n/a
26	chr13:49976473-49976523	GM12891	blood:	n/a
27	chr13:50018352-50018402	SK-N-SH	brain:	n/a
28	chr13:49925538-49925588	HRE	kidney:	n/a
29	chr13:50056284-50056334	NHBE	bronchial:	n/a
30	chr13:50018409-50018459	BE2_C	brain:	n/a
31	chr13:50030794-50030844	HCT-116	colon:	n/a
32	chr13:50018359-50018409	PrEC	prostate:	n/a
33	chr13:50024281-50024331	PFSK-1	brain:	n/a
34	chr13:50018359-50018409	HEEpiC	esophagus:	n/a
35	chr13:50024293-50024343	BE2_C	brain:	n/a
36	chr13:50018406-50018456	HEEpiC	esophagus:	n/a
37	chr13:49975383-49975433	BJ	skin:	n/a
38	chr13:50018359-50018409	HUVEC	blood vessel:	n/a
39	chr13:49977110-49977160	SK-N-MC	brain:	n/a
40	chr13:50018406-50018456	AG09319	gingival:	n/a
41	chr13:50018359-50018409	HIPEpiC	eye:	n/a
42	chr13:49976473-49976523	HepG2	liver:	n/a
43	chr13:50018514-50018564	ProgFib	skin:	n/a
44	chr13:50018636-50018686	U87	brain:	n/a
45	chr13:50018157-50018207	HCPEpiC	choroid plexus:	n/a
46	chr13:50019081-50019131	GM12878	blood:	n/a
47	chr13:50019081-50019131	ProgFib	skin:	n/a
48	chr13:49921879-49921929	MCF10A-Er-Src	breast:	n/a
49	chr13:50018359-50018409	HCF	heart:	n/a
50	chr13:50018044-50018094	SK-N-MC	brain:	n/a

(count:74 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr13:50018060..50018635-chr18:9475189..9475739,2	NB4	blood:
2	chr13:49820441..49822930-chr13:50018500..50020473,2	K562	blood:
3	chr13:49959574..49961755-chr13:50016698..50018510,2	MCF-7	breast:
4	chr13:50016481..50018378-chr13:50070335..50072171,3	K562	blood:
5	chr13:49908949..49913075-chr13:49914769..49917405,4	K562	blood:
6	chr13:50011471..50014414-chr13:50018159..50020318,3	K562	blood:
7	chr13:49948746..49951030-chr13:49963060..49965178,2	K562	blood:
8	chr13:49937629..49939824-chr13:49947316..49949983,2	MCF-7	breast:
9	chr13:49978042..49980061-chr13:49981033..49983689,2	K562	blood:
10	chr13:49895624..49898255-chr13:49912286..49914508,2	K562	blood:
11	chr13:49993633..49996417-chr13:50068251..50070383,2	K562	blood:
12	chr13:49885803..49888221-chr13:49971631..49973979,2	MCF-7	breast:
13	chr13:50018375..50018943-chr9:33025160..33025792,2	NB4	blood:
14	chr13:50027025..50029589-chr13:50038716..50040663,2	MCF-7	breast:
15	chr13:49874986..49875912-chr13:49995476..49996152,3	MCF-7	breast:
16	chr13:49978561..49980656-chr13:49982189..49983984,2	K562	blood:
17	chr13:49909208..49911721-chr13:49915236..49917405,2	K562	blood:
18	chr13:49978042..49980061-chr13:49981033..49983689,2	K562	blood:
19	chr13:50017708..50019470-chr13:50036743..50039424,2	MCF-7	breast:
20	chr13:49875221..49876253-chr13:50010820..50011928,3	K562	blood:
21	chr13:50027025..50029589-chr13:50038716..50040663,2	MCF-7	breast:
22	chr13:50022438..50024030-chr13:50027384..50029296,2	MCF-7	breast:
23	chr13:50017920..50018425-chr3:127317278..127318186,2	NB4	blood:
24	chr13:50016483..50020444-chr13:50068529..50072853,4	MCF-7	breast:
25	chr13:50013502..50016015-chr13:50068967..50071697,2	K562	blood:
26	chr13:50017253..50018810-chr16:3331703..3334184,2	MCF-7	breast:
27	chr13:49938960..49941756-chr13:49943750..49946277,2	K562	blood:
28	chr13:50027049..50030534-chr13:50032779..50035441,4	K562	blood:
29	chr13:49974198..49976511-chr13:50002118..50003753,2	MCF-7	breast:
30	chr13:49938960..49941756-chr13:49943750..49946277,2	K562	blood:
31	chr13:49668884..49671428-chr13:50017958..50020169,2	MCF-7	breast:
32	chr13:49994580..49997137-chr13:49999140..50001619,2	MCF-7	breast:
33	chr1:36554087..36554720-chr13:50018951..50019561,2	NB4	blood:
34	chr13:50029751..50032528-chr13:50034704..50037567,2	MCF-7	breast:
35	chr10:75173616..75174305-chr13:50017762..50018728,2	HCT-116	colon:
36	chr13:50022438..50024030-chr13:50027384..50029296,2	MCF-7	breast:
37	chr13:50016638..50018754-chr19:46028466..46031236,2	MCF-7	breast:
38	chr13:50016895..50018613-chr13:50024420..50026981,2	MCF-7	breast:
39	chr13:49980803..49985123-chr13:49985194..49988213,3	MCF-7	breast:
40	chr13:50038863..50040866-chr13:50041548..50043299,2	K562	blood:
41	chr13:50033311..50035354-chr13:50074002..50076664,2	MCF-7	breast:
42	chr13:50010568..50013780-chr13:50016581..50020506,3	MCF-7	breast:
43	chr13:50007011..50008886-chr13:50012564..50014839,2	MCF-7	breast:
44	chr13:49948746..49951030-chr13:49963060..49965178,2	K562	blood:
45	chr13:50018061..50019687-chr13:50035601..50037129,2	MCF-7	breast:
46	chr13:49820702..49823407-chr13:50017509..50020339,3	MCF-7	breast:
47	chr13:50016508..50019619-chr13:50158297..50162493,5	MCF-7	breast:
48	chr13:50029751..50032528-chr13:50034704..50037567,2	MCF-7	breast:
49	chr13:49875049..49876153-chr13:50010754..50011724,7	MCF-7	breast:
50	chr13:50038863..50040866-chr13:50041548..50043299,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL136218.1-2	chr13:50008222-50008359	NONHSAT033741
2	lnc-AL136218.1-2	chr13:50018122-50018200	NONHSAT033741
3	lnc-AL136218.1-1	chr13:49999396-49999977	NONHSAT033743
4	lnc-AL136218.1-2	chr13:49988140-49988335	NONHSAT033741
5	lnc-AL136218.1-1	chr13:49999416-49999586	NONHSAT033742
6	lnc-AL136218.1-1	chr13:49993070-49993573	NONHSAT033742
7	lnc-AL136218.1-1	chr13:49998089-49998144	NONHSAT033742
8	lnc-AL136218.1-2	chr13:49975269-49975406	NONHSAT033740
9	lnc-AL136218.1-2	chr13:49987048-49987176	NONHSAT033740
10	lnc-AL136218.1-1	chr13:49999345-49999351	NONHSAT033743
11	lnc-AL136218.1-2	chr13:50007454-50007529	NONHSAT033741
12	lnc-AL136218.1-2	chr13:49956643-49957077	NONHSAT033740
13	lnc-PHF11-2	chr13:50019689-50020088	NONHSAT033744
14	lnc-AL136218.1-2	chr13:49975632-49975723	NONHSAT033741
15	lnc-PHF11-2	chr13:50018820-50018993	NONHSAT033744
16	lnc-AL136218.1-2	chr13:49975531-49975723	NONHSAT033740

No data

Variant related genes	Relation type
CAB39L	TF binding region
SETDB2	TF binding region
SNRPGP14	TF binding region
ENSG00000215462	TF binding region
CAB39L	CpG island
SETDB2	CpG island
SNRPGP14	CpG island
ENSG00000215462	CpG island
ENSG00000125753	chromatin interactions
ENSG00000136169	chromatin interactions
ENSG00000199788	chromatin interactions
ENSG00000006194	chromatin interactions
ENSG00000137074	chromatin interactions
ENSG00000198755	chromatin interactions
ENSG00000017797	chromatin interactions
ENSG00000102547	chromatin interactions
ENSG00000136147	chromatin interactions
ENSG00000086061	chromatin interactions
ENSG00000215462	chromatin interactions
ENSG00000136144	chromatin interactions
ENSG00000138279	chromatin interactions
ENSG00000073111	chromatin interactions
ENSG00000116863	chromatin interactions
ENSG00000102543	chromatin interactions

Extended variants
information (count: 4880 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:4880 , 50 per page) page: 1 2 3 4 5 6 7 ... 98

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17072833	chr13:49914393-49914394	ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs71434469	chr13:49914395-49914396	ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs73485422	chr13:49914495-49914496	ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs186354805	chr13:49914542-49914543	ZNF genes & repeats Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570357396	chr13:49914610-49914611	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534899221	chr13:49914629-49914630	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553027857	chr13:49914630-49914631	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574694680	chr13:49914637-49914638	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114398575	chr13:49914659-49914660	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371747463	chr13:49914662-49914663	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569471945	chr13:49914670-49914671	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556919996	chr13:49914684-49914685	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs150989211	chr13:49914695-49914696	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574186919	chr13:49914814-49914815	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545962614	chr13:49914836-49914837	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73485423	chr13:49914877-49914878	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs369518522	chr13:49914941-49914942	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541627735	chr13:49914967-49914968	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559767795	chr13:49914994-49914995	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530423793	chr13:49915032-49915033	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548246246	chr13:49915040-49915041	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569752769	chr13:49915066-49915067	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74074586	chr13:49915094-49915095	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs531891639	chr13:49915145-49915146	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552279970	chr13:49915147-49915148	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73485426	chr13:49915182-49915183	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs150175837	chr13:49915184-49915185	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571736797	chr13:49915221-49915222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191102613	chr13:49915241-49915242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs77983504	chr13:49915258-49915259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535750248	chr13:49915273-49915274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559940032	chr13:49915383-49915384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527258096	chr13:49915384-49915385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs6561520	chr13:49915391-49915392	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs557850983	chr13:49915402-49915403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs200675554	chr13:49915407-49915408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369379295	chr13:49915408-49915409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1198499	chr13:49915450-49915451	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs541219819	chr13:49915471-49915472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559904073	chr13:49915481-49915482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376409363	chr13:49915536-49915537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567564079	chr13:49915583-49915584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1198500	chr13:49915634-49915635	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs563319605	chr13:49915640-49915641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530849330	chr13:49915663-49915664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182393534	chr13:49915703-49915704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1198501	chr13:49915708-49915709	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs567872309	chr13:49915792-49915793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs113166366	chr13:49915804-49915805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546438114	chr13:49915844-49915845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:126)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	19435819	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Myelofibrosis	22110671	CNVD
Hereditary prostate cancer	22028916	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Prostate cancer	17217626	CNVD
Ovarian cancer	21781307	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Chronic myeloid leukemia	21384125	CNVD
Sezary syndrome	18413736	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21990379	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Alcoholism	21790672	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:2889 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49876200-49935600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr13:49884600-49933600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr13:49884800-49925600	Weak transcription	Brain Substantia Nigra	brain
4	chr13:49885600-49933400	Weak transcription	Primary T cells from cord blood	blood
5	chr13:49885800-49926000	Weak transcription	Brain Germinal Matrix	brain
6	chr13:49888400-49922200	Weak transcription	Gastric	stomach
7	chr13:49888600-49922200	Weak transcription	Lung	lung
8	chr13:49889000-49944600	Weak transcription	Brain Angular Gyrus	brain
9	chr13:49889000-49947600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr13:49889200-49919400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr13:49889200-49933400	Weak transcription	Brain Anterior Caudate	brain
12	chr13:49889200-49944600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr13:49889600-49914400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr13:49889600-49914400	Weak transcription	Small Intestine	intestine
15	chr13:49889600-49927400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr13:49891800-49922000	Weak transcription	Left Ventricle	heart
17	chr13:49895000-49916400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr13:49895000-49927600	Weak transcription	NHLF	lung
19	chr13:49895600-49918000	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr13:49895600-49933200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr13:49895800-49935600	Weak transcription	Esophagus	oesophagus
22	chr13:49897800-49916800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr13:49902800-49927600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr13:49903000-49918400	Weak transcription	Psoas Muscle	Psoas
25	chr13:49904400-49919800	Weak transcription	Ovary	ovary
26	chr13:49904400-49922200	Weak transcription	Pancreas	Pancrea
27	chr13:49904400-49929200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr13:49904400-49929400	Weak transcription	Fetal Brain Female	brain
29	chr13:49904600-49922000	Weak transcription	Right Ventricle	heart
30	chr13:49904600-49930800	Weak transcription	Aorta	Aorta
31	chr13:49905400-49922200	Weak transcription	Fetal Muscle Trunk	muscle
32	chr13:49905800-49919600	Weak transcription	Fetal Lung	lung
33	chr13:49909200-49914400	Weak transcription	Fetal Intestine Large	intestine
34	chr13:49909200-49923800	Weak transcription	Fetal Intestine Small	intestine
35	chr13:49910000-49917600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr13:49911200-49916800	Weak transcription	Adipose Nuclei	Adipose
37	chr13:49911200-49922400	Weak transcription	Placenta	Placenta
38	chr13:49911800-49915400	Weak transcription	HepG2	liver
39	chr13:49912600-49948800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr13:49912800-49917400	Weak transcription	NHDF-Ad	bronchial
41	chr13:49912800-49924200	Weak transcription	Fetal Muscle Leg	muscle
42	chr13:49913200-49932600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr13:49913600-49915200	Enhancers	Fetal Heart	heart
44	chr13:49913800-49915000	Strong transcription	Stomach Smooth Muscle	stomach
45	chr13:49913800-49915200	Strong transcription	Colon Smooth Muscle	Colon
46	chr13:49914000-49914800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr13:49914000-49925200	Weak transcription	Rectal Smooth Muscle	rectum
48	chr13:49914200-49914600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr13:49914200-49914600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr13:49914200-49914600	Enhancers	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links