Variant report

Variant	nsv901118
Chromosome Location	chr14:19755136-20425051
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2863)
CpG islands
(count:3173)
Chromatin interactive
region (count:5)
LncRNA
region (count:132)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2863 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:20346227-20346537	HepG2	liver:	n/a	n/a
2	ARID3A	chr14:20387153-20387455	HepG2	liver:	n/a	n/a
3	ARID3A	chr14:20346241-20346527	K562	blood:	n/a	n/a
4	ATF1	chr14:20374096-20374405	K562	blood:	n/a	n/a
5	ATF1	chr14:19792967-19794009	K562	blood:	n/a	n/a
6	ATF1	chr14:19795048-19796237	K562	blood:	n/a	n/a
7	ATF1	chr14:20319622-20319703	K562	blood:	n/a	n/a
8	ATF1	chr14:20325048-20325100	K562	blood:	n/a	n/a
9	ATF1	chr14:20388271-20388560	K562	blood:	n/a	n/a
10	BACH1	chr14:19795663-19796213	K562	blood:	n/a	n/a
11	BACH1	chr14:20348120-20348235	K562	blood:	n/a	n/a
12	BATF	chr14:19937503-19937859	GM12878	blood:	n/a	chr14:19937698-19937709
13	BATF	chr14:19937525-19937845	GM12878	blood:	n/a	chr14:19937698-19937709
14	BATF	chr14:20026256-20026650	GM12878	blood:	n/a	n/a
15	BATF	chr14:19827024-19827305	GM12878	blood:	n/a	n/a
16	BATF	chr14:20085953-20086237	GM12878	blood:	n/a	n/a
17	BATF	chr14:20031700-20032016	GM12878	blood:	n/a	n/a
18	BATF	chr14:20025031-20025541	GM12878	blood:	n/a	n/a
19	BATF	chr14:20025214-20025459	GM12878	blood:	n/a	n/a
20	BATF	chr14:19921485-19921738	GM12878	blood:	n/a	n/a
21	BATF	chr14:20131255-20131487	GM12878	blood:	n/a	n/a
22	BATF	chr14:19986920-19987123	GM12878	blood:	n/a	n/a
23	BCL11A	chr14:19819837-19820033	GM12878	blood:	n/a	n/a
24	BCL11A	chr14:19937603-19937812	GM12878	blood:	n/a	n/a
25	BCL11A	chr14:19921178-19921362	GM12878	blood:	n/a	n/a
26	BCL11A	chr14:20084307-20084477	GM12878	blood:	n/a	n/a
27	BCL11A	chr14:19920793-19920958	GM12878	blood:	n/a	n/a
28	BCL11A	chr14:19826657-19827003	GM12878	blood:	n/a	n/a
29	BCL11A	chr14:19821581-19821893	GM12878	blood:	n/a	n/a
30	BCL11A	chr14:19824315-19824574	GM12878	blood:	n/a	n/a
31	BCL11A	chr14:19827039-19827376	GM12878	blood:	n/a	n/a
32	BCL11A	chr14:20025076-20025493	GM12878	blood:	n/a	chr14:20025351-20025360
33	BCL11A	chr14:19776347-19776520	GM12878	blood:	n/a	n/a
34	BCL11A	chr14:19829015-19829207	GM12878	blood:	n/a	n/a
35	BCL11A	chr14:19827491-19827723	GM12878	blood:	n/a	n/a
36	BCL11A	chr14:19937474-19937874	GM12878	blood:	n/a	n/a
37	BCL11A	chr14:19826185-19826607	GM12878	blood:	n/a	n/a
38	BHLHE40	chr14:19973726-19973967	HepG2	liver:	n/a	n/a
39	BHLHE40	chr14:19925145-19925472	HepG2	liver:	n/a	n/a
40	BHLHE40	chr14:19921007-19921253	HepG2	liver:	n/a	n/a
41	BHLHE40	chr14:19984674-19984958	HepG2	liver:	n/a	n/a
42	BHLHE40	chr14:19918428-19918670	HepG2	liver:	n/a	n/a
43	BHLHE40	chr14:20136685-20136689	K562	blood:	n/a	n/a
44	BHLHE40	chr14:19978638-19978868	HepG2	liver:	n/a	n/a
45	BHLHE40	chr14:19762606-19762827	HepG2	liver:	n/a	n/a
46	BHLHE40	chr14:19937479-19937774	HepG2	liver:	n/a	n/a
47	BHLHE40	chr14:19932458-19932823	HepG2	liver:	n/a	chr14:19932665-19932681 chr14:19932534-19932550
48	BHLHE40	chr14:19933072-19933376	HepG2	liver:	n/a	n/a
49	CBX3	chr14:19937536-19938018	K562	blood:	n/a	n/a
50	CBX3	chr14:19925184-19925431	K562	blood:	n/a	n/a

(count:3173 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:19962440-19962490	Jurkat	blood:	n/a
2	chr14:19962440-19962490	Jurkat	blood:	n/a
3	chr14:19890601-19890651	GM12891	blood:	n/a
4	chr14:20136822-20136872	HEEpiC	esophagus:	n/a
5	chr14:19888327-19888377	T-47D	breast:	n/a
6	chr14:20148103-20148153	NB4	blood:	n/a
7	chr14:20147652-20147702	NT2-D1	testis:	n/a
8	chr14:19888629-19888679	NHDF-neo	bronchial:	n/a
9	chr14:19932946-19932996	NHDF-neo	bronchial:	n/a
10	chr14:19858845-19858895	AG04449	skin:	fetal
11	chr14:19932946-19932996	HIPEpiC	eye:	n/a
12	chr14:20148103-20148153	HEEpiC	esophagus:	n/a
13	chr14:19925080-19925130	HL-60	blood:	n/a
14	chr14:19949555-19949605	NT2-D1	testis:	n/a
15	chr14:20137365-20137415	PrEC	prostate:	n/a
16	chr14:20020668-20020718	HAEpiC	amniotic membrane:	n/a
17	chr14:19959522-19959572	GM12878	blood:	n/a
18	chr14:20148103-20148153	K562	blood:	n/a
19	chr14:20146493-20146543	CMK	blood:	n/a
20	chr14:20146694-20146744	T-47D	breast:	n/a
21	chr14:20247919-20247969	AG04449	skin:	fetal
22	chr14:20020024-20020074	PANC-1	pancreas:	n/a
23	chr14:19925080-19925130	NH-A	brain:	n/a
24	chr14:20146694-20146744	SK-N-SH	brain:	n/a
25	chr14:19962440-19962490	AoSMC	blood vessel:	n/a
26	chr14:20295616-20295666	RPTEC	kidney:	n/a
27	chr14:20139478-20139528	A549	lung:	n/a
28	chr14:20389177-20389227	Jurkat	blood:	n/a
29	chr14:19964024-19964074	AG10803	skin:	n/a
30	chr14:20148103-20148153	HCPEpiC	choroid plexus:	n/a
31	chr14:20136822-20136872	SK-N-SH	brain:	n/a
32	chr14:20403845-20403895	NT2-D1	testis:	n/a
33	chr14:20403239-20403289	MCF10A-Er-Src	breast:	n/a
34	chr14:20137365-20137415	IMR90	lung:	fetal
35	chr14:20137365-20137415	H1-hESC	embryonic stem cell:	embryo
36	chr14:19960920-19960970	RPTEC	kidney:	n/a
37	chr14:20136822-20136872	HRE	kidney:	n/a
38	chr14:20404281-20404331	H1-hESC	embryonic stem cell:	embryo
39	chr14:20134518-20134568	HepG2	liver:	n/a
40	chr14:20247919-20247969	BE2_C	brain:	n/a
41	chr14:20147187-20147237	SKMC	muscle:	n/a
42	chr14:19855113-19855163	AG09309	skin:	n/a
43	chr14:20215980-20216030	NHDF-neo	bronchial:	n/a
44	chr14:19932946-19932996	HCM	heart:	n/a
45	chr14:20215980-20216030	HCT-116	colon:	n/a
46	chr14:19950047-19950097	SK-N-MC	brain:	n/a
47	chr14:20137365-20137415	AG10803	skin:	n/a
48	chr14:19890601-19890651	NB4	blood:	n/a
49	chr14:20344920-20344970	GM12892	blood:	n/a
50	chr14:19890087-19890137	HMEC	breast:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:20421291..20423829-chr14:20424473..20427279,2	MCF-7	breast:
2	chr14:20382435..20385861-chr14:20389212..20390807,3	K562	blood:
3	chr14:20330082..20332945-chr14:20336237..20338891,2	K562	blood:
4	chr14:20378405..20379102-chr22:33621834..33622612,2	MCF-7	breast:
5	chr14:20382435..20385861-chr14:20389212..20390807,3	K562	blood:

(count:132 , 50 per page) page: 1 2 3

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POTEM-1	chr14:19968877-19972292	ENSG00000257931
2	lnc-POTEM-2	chr14:19872436-19872499	NONHSAT035499
3	lnc-POTEM-2	chr14:19919492-19919629	ENSG00000244306
4	lnc-POTEM-2	chr14:19918476-19918662	ENSG00000244306
5	lnc-POTEM-2	chr14:19921591-19921705	NONHSAT035521
6	lnc-POTEM-2	chr14:19856964-19857070	NONHSAT035499
7	lnc-POTEM-2	chr14:19921591-19921738	ENSG00000244306
8	lnc-POTEM-2	chr14:19880209-19884029	NONHSAT035503
9	lnc-POTEM-2	chr14:19919138-19919273	NONHSAT035503
10	lnc-POTEM-1	chr14:19944559-19944820	ENSG00000257931
11	lnc-POTEM-2	chr14:19894700-19894731	NONHSAT035499
12	lnc-POTEM-2	chr14:19880059-19884029	ENSG00000244306
13	lnc-POTEM-2	chr14:19925240-19925334	NR_110526
14	lnc-POTEM-2	chr14:19894700-19894794	ENSG00000244306
15	lnc-POTEM-2	chr14:19925240-19925333	NONHSAT035503
16	lnc-OR4N2-3	chr14:20006913-20007358	ENSG00000258276
17	lnc-OR4N2-4	chr14:19904259-19904571	XLOC_010749
18	lnc-POTEM-2	chr14:19894700-19894790	ENSG00000244306
19	lnc-POTEM-2	chr14:19923013-19923123	ENSG00000244306
20	lnc-POTEM-2	chr14:19919138-19919273	ENSG00000244306
21	lnc-POTEM-3	chr14:19858667-19861377	ENSG00000249549
22	lnc-OR4N2-4	chr14:19896785-19896872	XLOC_010749
23	lnc-POTEM-2	chr14:19921591-19921705	NONHSAT035520
24	lnc-POTEM-2	chr14:19925240-19925300	ENSG00000244306
25	lnc-POTEM-2	chr14:19919492-19919629	NONHSAT035521
26	lnc-POTEM-2	chr14:19921591-19921738	NR_110526
27	lnc-POTEM-2	chr14:19892138-19892361	ENSG00000244306
28	lnc-POTEM-2	chr14:19925240-19925306	ENSG00000244306
29	lnc-POTEM-2	chr14:19925240-19925334	ENSG00000244306
30	lnc-OR4N2-4	chr14:19894369-19894691	XLOC_010749
31	lnc-POTEM-1	chr14:19932012-19932316	ENSG00000257931.2
32	lnc-POTEM-2	chr14:19921359-19921470	ENSG00000244306
33	lnc-POTEM-2	chr14:19921359-19921470	NONHSAT035521
34	lnc-POTEM-2	chr14:19925240-19925333	NONHSAT140152
35	lnc-POTEM-2	chr14:19919492-19919629	NONHSAT035503
36	lnc-OR4N2-4	chr14:19904259-19904890	ENSG00000215394
37	lnc-POTEM-2	chr14:19921359-19921390	NONHSAT035499
38	lnc-POTEM-2	chr14:19921359-19921470	NONHSAT140152
39	lnc-POTEG-5	chr14:19812176-19812247	ENSG00000258188.1
40	lnc-POTEM-2	chr14:19919492-19919629	ENSG00000244306
41	lnc-OR4N2-3	chr14:20008836-20010956	NR_110505
42	lnc-POTEG-5	chr14:19859457-19859970	ENSG00000258188.1
43	lnc-OR4N2-3	chr14:20006913-20007358	NR_110505
44	lnc-POTEM-2	chr14:19925240-19925345	ENSG00000244306
45	lnc-POTEM-2	chr14:19921359-19921470	ENSG00000244306
46	lnc-POTEM-2	chr14:19893856-19894790	ENSG00000244306
47	lnc-POTEM-2	chr14:19921359-19921470	NONHSAT035520
48	lnc-POTEM-2	chr14:19894700-19894790	ENSG00000244306
49	lnc-POTEM-6	chr14:19887445-19887497	ENSG00000257898.1
50	lnc-POTEM-2	chr14:19921359-19921470	ENSG00000244306

No data

Variant related genes	Relation type
ENSG00000259016	TF binding region
OR4K5	TF binding region
ENSG00000244306	TF binding region
ENSG00000257142	TF binding region
ENSG00000259069	TF binding region
OR4K4P	TF binding region
ENSG00000257884	TF binding region
ENSG00000258324	TF binding region
OR4K3	TF binding region
ARHGAP42P4	TF binding region
ENSG00000238492	TF binding region
OR4K16P	TF binding region
ENSG00000257846	TF binding region
BMS1P18	TF binding region
OR11H2	TF binding region
ENSG00000257357	TF binding region
ENSG00000257868	TF binding region
OR4N2	TF binding region
OR11H13P	TF binding region
ENSG00000258027	TF binding region
OR4K1	TF binding region
ENSG00000258198	TF binding region
MED15P6	TF binding region
OR4M1	TF binding region
OR11K2P	TF binding region
ENSG00000257395	TF binding region
OR4N1P	TF binding region
ENSG00000257493	TF binding region
OR4Q3	TF binding region
ENSG00000258276	TF binding region
ENSG00000271632	TF binding region
OR4H12P	TF binding region
ENSG00000257931	TF binding region
OR4K6P	TF binding region
GRAMD4P4	TF binding region
ENSG00000257751	TF binding region
RNU6-1268P	TF binding region
ENSG00000257749	TF binding region
ENSG00000258188	TF binding region
ENSG00000257977	TF binding region
ENSG00000257432	TF binding region
POTEM	TF binding region
OR4K2	TF binding region
ENSG00000259016	CpG island
OR4K5	CpG island
ENSG00000244306	CpG island
ENSG00000257142	CpG island
ENSG00000259069	CpG island
OR4K4P	CpG island
ENSG00000257884	CpG island
ENSG00000258324	CpG island
OR4K3	CpG island
ARHGAP42P4	CpG island
ENSG00000238492	CpG island
OR4K16P	CpG island
ENSG00000257846	CpG island
BMS1P18	CpG island
OR11H2	CpG island
ENSG00000257357	CpG island
ENSG00000257868	CpG island
OR4N2	CpG island
OR11H13P	CpG island
ENSG00000258027	CpG island
OR4K1	CpG island
ENSG00000258198	CpG island
MED15P6	CpG island
OR4M1	CpG island
OR11K2P	CpG island
ENSG00000257395	CpG island
OR4N1P	CpG island
ENSG00000257493	CpG island
OR4Q3	CpG island
ENSG00000258276	CpG island
ENSG00000271632	CpG island
OR4H12P	CpG island
ENSG00000257931	CpG island
OR4K6P	CpG island
GRAMD4P4	CpG island
ENSG00000257751	CpG island
RNU6-1268P	CpG island
ENSG00000257749	CpG island
ENSG00000258188	CpG island
ENSG00000257977	CpG island
ENSG00000257432	CpG island
POTEM	CpG island
OR4K2	CpG island
ENSG00000176290	chromatin interactions
ENSG00000258822	chromatin interactions

Extended variants
information (count: 8389 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:8389 , 50 per page) page: 1 2 3 4 5 6 7 ... 168

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370217293	chr14:19761400-19761401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373109090	chr14:19761410-19761411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572089241	chr14:19761417-19761418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs201177755	chr14:19761439-19761440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534677768	chr14:19761476-19761477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201811511	chr14:19761477-19761478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113838295	chr14:19761519-19761520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368308232	chr14:19761551-19761552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201240243	chr14:19763868-19763869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2000502	chr14:19763892-19763893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541525028	chr14:19763901-19763902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369606508	chr14:19763929-19763930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200171772	chr14:19763935-19763936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373992826	chr14:19763978-19763979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376673609	chr14:19764002-19764003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370826945	chr14:19764005-19764006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139675691	chr14:19764007-19764008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554699250	chr14:19764016-19764017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201409724	chr14:19764023-19764024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200036148	chr14:19764027-19764028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369734448	chr14:19764031-19764032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540892585	chr14:19764044-19764045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200938152	chr14:19764067-19764068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543123697	chr14:19764105-19764106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs202237548	chr14:19764159-19764160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200234011	chr14:19764160-19764161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368959378	chr14:19764309-19764310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs55735626	chr14:19764344-19764345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201158776	chr14:19764365-19764366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201437155	chr14:19764424-19764425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61968429	chr14:19764452-19764453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs77543271	chr14:19764462-19764463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113461692	chr14:19764491-19764492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553529291	chr14:19764509-19764510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201559007	chr14:19764581-19764582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199749209	chr14:19764740-19764741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373326220	chr14:19764753-19764754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544277549	chr14:19764754-19764755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs199570022	chr14:19764780-19764781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200867937	chr14:19764783-19764784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558623286	chr14:19764784-19764785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs375570897	chr14:19764817-19764818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562875911	chr14:19764835-19764836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368787047	chr14:19764846-19764847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs61968430	chr14:19764850-19764851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61968431	chr14:19764878-19764879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200656135	chr14:19764934-19764935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200302209	chr14:19764950-19764951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201434857	chr14:19765030-19765031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375847775	chr14:19765058-19765059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Cancer	20164920	CNVD
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cone-rod dystrophy	18421352	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	21482944	CNVD
Mental retardation	19951919	CNVD
Neuroblastoma	21899760	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Esophageal cancer	20955586	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17440070	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Chronic myeloid leukemia	20724749	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	21509527	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ependymoma	20639864	CNVD
Autism	20531469	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD

Chromatin state (count:233 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:19761400-19761600	Enhancers	Dnd41	blood
2	chr14:19763800-19764600	Weak transcription	Dnd41	blood
3	chr14:19764600-19764800	Enhancers	Dnd41	blood
4	chr14:19764800-19766400	Weak transcription	Dnd41	blood
5	chr14:19766400-19768200	Enhancers	Dnd41	blood
6	chr14:19768200-19771800	Weak transcription	Dnd41	blood
7	chr14:19771800-19772200	Active TSS	Dnd41	blood
8	chr14:19772200-19772600	Flanking Active TSS	Dnd41	blood
9	chr14:19772600-19772800	Active TSS	Dnd41	blood
10	chr14:19772800-19774000	Transcr. at gene 5' and 3'	Dnd41	blood
11	chr14:19774000-19775200	Weak transcription	Dnd41	blood
12	chr14:19775200-19775600	Flanking Active TSS	Dnd41	blood
13	chr14:19775600-19781000	Weak transcription	Dnd41	blood
14	chr14:19781000-19781200	Enhancers	Dnd41	blood
15	chr14:19781200-19783600	Weak transcription	Dnd41	blood
16	chr14:19783800-19784200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:19784000-19784200	Enhancers	Dnd41	blood
18	chr14:19785800-19786000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:19789600-19790400	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr14:19792800-19794200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr14:19793000-19793200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
22	chr14:19793000-19793400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
23	chr14:19793000-19793800	ZNF genes & repeats	Fetal Lung	lung
24	chr14:19793000-19796000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr14:19793000-19796000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr14:19793000-19796000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
27	chr14:19793000-19796200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
28	chr14:19793200-19794400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
29	chr14:19793400-19795400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
30	chr14:19794000-19796000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr14:19794800-19795400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr14:19795000-19796200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr14:19795200-19795800	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr14:19795200-19796000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr14:19795400-19795600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr14:19795600-19795800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr14:19795800-19796000	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr14:19795800-19796000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr14:19806400-19806800	Active TSS	Brain Substantia Nigra	brain
40	chr14:19806600-19807200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr14:19806800-19807400	Bivalent/Poised TSS	Brain Substantia Nigra	brain
42	chr14:19807200-19810800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr14:19810800-19811000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr14:19811000-19812800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr14:19812800-19813000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr14:19814600-19814800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr14:19814800-19817400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr14:19817400-19820200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr14:19818600-19823600	Weak transcription	Pancreas	Pancrea
50	chr14:19819400-19820200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links