Variant report

Variant	nsv1044592
Chromosome Location	chr14:19416179-20232626
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4273)
CpG islands
(count:4156)
Chromatin interactive
region (count:0)
LncRNA
region (count:251)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:4273 , 50 per page) page: 1 2 3 4 5 6 7 ... 86

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:19614565-19614964	K562	blood:	n/a	n/a
2	ATF1	chr14:19792967-19794009	K562	blood:	n/a	n/a
3	ATF1	chr14:19697695-19697910	K562	blood:	n/a	n/a
4	ATF1	chr14:19795048-19796237	K562	blood:	n/a	n/a
5	ATF1	chr14:19610591-19610826	K562	blood:	n/a	n/a
6	ATF1	chr14:19461425-19461537	K562	blood:	n/a	n/a
7	ATF1	chr14:19450073-19450214	K562	blood:	n/a	n/a
8	ATF1	chr14:19464826-19465023	K562	blood:	n/a	n/a
9	ATF1	chr14:19436953-19437483	K562	blood:	n/a	n/a
10	ATF1	chr14:19619825-19620010	K562	blood:	n/a	n/a
11	ATF1	chr14:19462190-19462538	K562	blood:	n/a	n/a
12	ATF1	chr14:19614523-19614771	K562	blood:	n/a	n/a
13	ATF1	chr14:19609027-19609227	K562	blood:	n/a	n/a
14	ATF3	chr14:19614578-19614850	K562	blood:	n/a	n/a
15	BACH1	chr14:19464051-19464239	K562	blood:	n/a	n/a
16	BACH1	chr14:19462184-19462510	K562	blood:	n/a	n/a
17	BACH1	chr14:19795663-19796213	K562	blood:	n/a	n/a
18	BACH1	chr14:19608951-19609223	K562	blood:	n/a	n/a
19	BACH1	chr14:19438368-19438886	K562	blood:	n/a	n/a
20	BACH1	chr14:19614506-19614753	K562	blood:	n/a	n/a
21	BATF	chr14:19548118-19548363	GM12878	blood:	n/a	n/a
22	BATF	chr14:19541484-19541694	GM12878	blood:	n/a	n/a
23	BATF	chr14:19986920-19987123	GM12878	blood:	n/a	n/a
24	BATF	chr14:19637509-19637829	GM12878	blood:	n/a	chr14:19637679-19637690
25	BATF	chr14:20025214-20025459	GM12878	blood:	n/a	n/a
26	BATF	chr14:19937503-19937859	GM12878	blood:	n/a	chr14:19937698-19937709
27	BATF	chr14:19827024-19827305	GM12878	blood:	n/a	n/a
28	BATF	chr14:20131255-20131487	GM12878	blood:	n/a	n/a
29	BATF	chr14:20031700-20032016	GM12878	blood:	n/a	n/a
30	BATF	chr14:19921485-19921738	GM12878	blood:	n/a	n/a
31	BATF	chr14:19546952-19547321	GM12878	blood:	n/a	n/a
32	BATF	chr14:20085953-20086237	GM12878	blood:	n/a	n/a
33	BATF	chr14:20025031-20025541	GM12878	blood:	n/a	n/a
34	BATF	chr14:19653590-19653843	GM12878	blood:	n/a	n/a
35	BATF	chr14:20026256-20026650	GM12878	blood:	n/a	n/a
36	BATF	chr14:19586478-19586681	GM12878	blood:	n/a	n/a
37	BATF	chr14:19541408-19541756	GM12878	blood:	n/a	n/a
38	BATF	chr14:19637495-19637851	GM12878	blood:	n/a	chr14:19637679-19637690
39	BATF	chr14:19487460-19487744	GM12878	blood:	n/a	n/a
40	BATF	chr14:19748478-19748726	GM12878	blood:	n/a	n/a
41	BATF	chr14:19548036-19548546	GM12878	blood:	n/a	n/a
42	BATF	chr14:19937525-19937845	GM12878	blood:	n/a	chr14:19937698-19937709
43	BCL11A	chr14:19829015-19829207	GM12878	blood:	n/a	n/a
44	BCL11A	chr14:19637480-19637880	GM12878	blood:	n/a	n/a
45	BCL11A	chr14:19826185-19826607	GM12878	blood:	n/a	n/a
46	BCL11A	chr14:19753894-19754206	GM12878	blood:	n/a	n/a
47	BCL11A	chr14:19653966-19654150	GM12878	blood:	n/a	n/a
48	BCL11A	chr14:19637542-19637751	GM12878	blood:	n/a	n/a
49	BCL11A	chr14:19819837-19820033	GM12878	blood:	n/a	n/a
50	BCL11A	chr14:20025076-20025493	GM12878	blood:	n/a	chr14:20025351-20025360

(count:4156 , 50 per page) page: 1 2 3 4 5 6 7 ... 84

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:19643599-19643649	ECC-1	luminal epithelium:	n/a
2	chr14:19614541-19614591	RPTEC	kidney:	n/a
3	chr14:20146493-20146543	Hepatocyte	liver:	n/a
4	chr14:19421688-19421738	HCF	heart:	n/a
5	chr14:19647166-19647216	PANC-1	pancreas:	n/a
6	chr14:20146694-20146744	HAEpiC	amniotic membrane:	n/a
7	chr14:20139478-20139528	CMK	blood:	n/a
8	chr14:19962440-19962490	GM12892	blood:	n/a
9	chr14:19643599-19643649	ECC-1	luminal epithelium:	n/a
10	chr14:19614541-19614591	RPTEC	kidney:	n/a
11	chr14:20146493-20146543	Hepatocyte	liver:	n/a
12	chr14:19421688-19421738	HCF	heart:	n/a
13	chr14:19647166-19647216	PANC-1	pancreas:	n/a
14	chr14:20146694-20146744	HAEpiC	amniotic membrane:	n/a
15	chr14:20139478-20139528	CMK	blood:	n/a
16	chr14:19962440-19962490	GM12892	blood:	n/a
17	chr14:19964024-19964074	Jurkat	blood:	n/a
18	chr14:19890601-19890651	MCF-7	breast:	n/a
19	chr14:20137365-20137415	NH-A	brain:	n/a
20	chr14:19858845-19858895	HEK293	kidney:	embryo
21	chr14:19959522-19959572	H1-hESC	embryonic stem cell:	embryo
22	chr14:19855113-19855163	H1-hESC	embryonic stem cell:	embryo
23	chr14:20146694-20146744	AG04449	skin:	fetal
24	chr14:19585143-19585193	BJ	skin:	n/a
25	chr14:20136822-20136872	Hepatocyte	liver:	n/a
26	chr14:20148125-20148175	SK-N-MC	brain:	n/a
27	chr14:20137365-20137415	AG10803	skin:	n/a
28	chr14:20147187-20147237	HPAEpiC	pulmonary alveolar:	n/a
29	chr14:20136693-20136743	A549	lung:	n/a
30	chr14:20146694-20146744	GM06990	blood:	n/a
31	chr14:19602855-19602905	PrEC	prostate:	n/a
32	chr14:20215980-20216030	K562	blood:	n/a
33	chr14:19829406-19829456	NB4	blood:	n/a
34	chr14:20020668-20020718	Hela-S3	cervix:	n/a
35	chr14:19887082-19887132	NH-A	brain:	n/a
36	chr14:20148125-20148175	U87	brain:	n/a
37	chr14:19686155-19686205	AG04450	lung:	fetal
38	chr14:19855113-19855163	MCF10A-Er-Src	breast:	n/a
39	chr14:19602855-19602905	HepG2	liver:	n/a
40	chr14:20135228-20135278	PANC-1	pancreas:	n/a
41	chr14:19641452-19641502	T-47D	breast:	n/a
42	chr14:20012038-20012088	HIPEpiC	eye:	n/a
43	chr14:20136693-20136743	SKMC	muscle:	n/a
44	chr14:19888434-19888484	AoSMC	blood vessel:	n/a
45	chr14:19600442-19600492	SAEC	small airway:	n/a
46	chr14:20106919-20106969	HRE	kidney:	n/a
47	chr14:19643599-19643649	H1-hESC	embryonic stem cell:	embryo
48	chr14:20012038-20012088	Hepatocyte	liver:	n/a
49	chr14:19686155-19686205	HMEC	breast:	n/a
50	chr14:19858845-19858895	LNCaP	prostate:	n/a

No data

(count:251 , 50 per page) page: 1 2 3 4 5 6

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POTEG-3	chr14:19611768-19611964	ENSG00000258314.2
2	lnc-POTEG-4	chr14:19652244-19652354	NR_110526
3	lnc-POTEG-6	chr14:19571348-19571418	NR_027480
4	lnc-POTEG-4	chr14:19653625-19653772	ENSG00000225210
5	lnc-POTEG-4	chr14:19680595-19681519	ENSG00000225210
6	lnc-POTEG-4	chr14:19650032-19650126	NR_110526
7	lnc-POTEG-4	chr14:19680595-19680685	NR_110526
8	lnc-POTEG-9	chr14:19468509-19468885	NONHSAT035447
9	lnc-POTEG-4	chr14:19653893-19654004	ENSG00000225210
10	lnc-POTEM-2	chr14:19919492-19919581	ENSG00000244306
11	lnc-POTEG-7	chr14:19603658-19603689	NONHSAT035463
12	lnc-POTEM-6	chr14:19887445-19887497	ENSG00000257898.1
13	lnc-POTEG-6	chr14:19574186-19574352	NR_027480
14	lnc-POTEG-4	chr14:19650060-19650126	NONHSAT035478
15	lnc-POTEG-4	chr14:19680591-19680685	ENSG00000225210
16	lnc-OR4N2-3	chr14:20006913-20007358	ENSG00000258276
17	lnc-POTEM-2	chr14:19872436-19872514	ENSG00000244306
18	lnc-POTEM-4	chr14:20145803-20146140	ENSG00000259069.1
19	lnc-POTEG-6	chr14:19553365-19553937	NR_027480
20	lnc-POTEM-2	chr14:19919492-19919629	NONHSAT035521
21	lnc-POTEG-1	chr14:19529958-19530169	ENSG00000258265.1
22	lnc-POTEM-8	chr14:19563712-19564808	NR_046571
23	lnc-POTEG-5	chr14:19859457-19859970	ENSG00000258188.1
24	lnc-OR4N2-3	chr14:20008836-20010958	ENSG00000258276
25	lnc-POTEM-2	chr14:19925240-19925294	NONHSAT035522
26	lnc-POTEM-1	chr14:19935898-19936380	ENSG00000257931
27	lnc-OR4N2-4	chr14:19904259-19904890	ENSG00000215394
28	lnc-POTEG-7	chr14:19595933-19596023	NONHSAT035463
29	lnc-POTEG-4	chr14:19650018-19650126	ENSG00000225210
30	lnc-POTEG-4	chr14:19662179-19662608	ENSG00000225210
31	lnc-POTEG-4	chr14:19653625-19653772	NR_110526
32	lnc-POTEG-4	chr14:19690487-19690609	ENSG00000225210
33	lnc-POTEM-2	chr14:19919138-19919273	ENSG00000244306
34	lnc-POTEG-7	chr14:19603204-19603279	NONHSAT035463
35	lnc-POTEM-2	chr14:19918476-19918662	ENSG00000244306
36	lnc-POTEG-5	chr14:19812176-19812247	ENSG00000258188.1
37	lnc-POTEG-4	chr14:19656089-19656224	NR_110526
38	lnc-POTEM-1	chr14:19968877-19969021	ENSG00000257931
39	lnc-POTEM-2	chr14:19880209-19884029	NONHSAT035503
40	lnc-POTEG-4	chr14:19683336-19683870	ENSG00000225210
41	lnc-POTEG-3	chr14:19605328-19606529	NONHSAT035465
42	lnc-POTEG-2	chr14:19519800-19519837	ENSG00000257891.1
43	lnc-POTEM-1	chr14:19932012-19932316	ENSG00000257931
44	lnc-POTEM-2	chr14:19925240-19925348	ENSG00000244306
45	lnc-POTEG-2	chr14:19517501-19517607	ENSG00000257891.1
46	lnc-POTEM-12	chr14:19806437-19807415	NONHSAT035495
47	lnc-POTEG-4	chr14:19680595-19681593	ENSG00000225210
48	lnc-POTEM-1	chr14:19944559-19944820	ENSG00000257931
49	lnc-POTEM-7	chr14:19680694-19681016	XLOC_010962
50	lnc-POTEM-2	chr14:19925240-19925306	ENSG00000244306

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	POTEG	hsa-miR-26b-5p	chr14:19563442-19563464

Variant related genes	Relation type
GRAMD4P3	TF binding region
ENSG00000244306	TF binding region
ENSG00000257142	TF binding region
ENSG00000258265	TF binding region
ENSG00000257558	TF binding region
ENSG00000259069	TF binding region
ENSG00000257884	TF binding region
ENSG00000258324	TF binding region
ARHGAP42P4	TF binding region
ENSG00000238492	TF binding region
ENSG00000257175	TF binding region
ENSG00000257573	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
ENSG00000258314	TF binding region
OR11H13P	TF binding region
ENSG00000257731	TF binding region
ENSG00000258027	TF binding region
ENSG00000258198	TF binding region
MED15P6	TF binding region
RNU6-1239P	TF binding region
BMS1P17	TF binding region
ENSG00000258781	TF binding region
ENSG00000258252	TF binding region
NF1P4	TF binding region
OR11K2P	TF binding region
ENSG00000257891	TF binding region
ENSG00000257395	TF binding region
ENSG00000257493	TF binding region
ENSG00000258076	TF binding region
OR4Q3	TF binding region
ENSG00000258276	TF binding region
ENSG00000271632	TF binding region
MED15P1	TF binding region
OR4H12P	TF binding region
ENSG00000257931	TF binding region
ENSG00000257635	TF binding region
ENSG00000239200	TF binding region
ENSG00000225210	TF binding region
ENSG00000257310	TF binding region
GRAMD4P4	TF binding region
ENSG00000257224	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
POTEG	TF binding region
DUXAP10	TF binding region
GRAMD4P3	CpG island
ENSG00000244306	CpG island
ENSG00000257142	CpG island
ENSG00000258265	CpG island
ENSG00000257558	CpG island
ENSG00000259069	CpG island
ENSG00000257884	CpG island
ENSG00000258324	CpG island
ARHGAP42P4	CpG island
ENSG00000238492	CpG island
ENSG00000257175	CpG island
ENSG00000257573	CpG island
ENSG00000257846	CpG island
BMS1P18	CpG island
OR11H2	CpG island
ENSG00000257357	CpG island
ENSG00000257868	CpG island
OR4N2	CpG island
ENSG00000258314	CpG island
OR11H13P	CpG island
ENSG00000257731	CpG island
ENSG00000258027	CpG island
ENSG00000258198	CpG island
MED15P6	CpG island
RNU6-1239P	CpG island
BMS1P17	CpG island
ENSG00000258781	CpG island
ENSG00000258252	CpG island
NF1P4	CpG island
OR11K2P	CpG island
ENSG00000257891	CpG island
ENSG00000257395	CpG island
ENSG00000257493	CpG island
ENSG00000258076	CpG island
OR4Q3	CpG island
ENSG00000258276	CpG island
ENSG00000271632	CpG island
MED15P1	CpG island
OR4H12P	CpG island
ENSG00000257931	CpG island
ENSG00000257635	CpG island
ENSG00000239200	CpG island
ENSG00000225210	CpG island
ENSG00000257310	CpG island
GRAMD4P4	CpG island
ENSG00000257224	CpG island
ENSG00000257751	CpG island
RNU6-1268P	CpG island
ENSG00000257749	CpG island
ENSG00000258188	CpG island
ENSG00000257977	CpG island
ENSG00000257432	CpG island
POTEM	CpG island
POTEG	CpG island
DUXAP10	CpG island

Extended variants
information (count: 6313 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:6313 , 50 per page) page: 1 2 3 4 5 6 7 ... 127

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2051239	chr14:19417356-19417357	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs552638127	chr14:19417642-19417643	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs570890792	chr14:19417664-19417665	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs538023430	chr14:19417666-19417667	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs556414193	chr14:19417678-19417679	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs568326792	chr14:19417689-19417690	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs202091113	chr14:19417694-19417695	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs141233001	chr14:19417702-19417703	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs111821601	chr14:19419019-19419020	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs372689032	chr14:19419059-19419060	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs61971297	chr14:19419068-19419069	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs201090882	chr14:19419073-19419074	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs202157404	chr14:19419075-19419076	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs200521658	chr14:19419093-19419094	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs201380322	chr14:19419127-19419128	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs192817593	chr14:19421689-19421690	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
17	rs148781802	chr14:19421698-19421699	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
18	rs369968575	chr14:19421702-19421703	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
19	rs569656528	chr14:19421736-19421737	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
20	rs536634290	chr14:19421754-19421755	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs200524349	chr14:19421796-19421797	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs548590191	chr14:19421805-19421806	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs566988028	chr14:19421809-19421810	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs534428139	chr14:19421811-19421812	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs540063899	chr14:19421962-19421963	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs180833886	chr14:19421995-19421996	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs558149066	chr14:19422023-19422024	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs61971315	chr14:19422027-19422028	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs576834440	chr14:19422028-19422029	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs377762937	chr14:19422056-19422057	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs543813457	chr14:19422065-19422066	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs555816208	chr14:19422066-19422067	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs201446142	chr14:19422092-19422093	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs199578360	chr14:19422097-19422098	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs546366752	chr14:19422339-19422340	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
36	rs185346523	chr14:19422347-19422348	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
37	rs79164553	chr14:19422352-19422353	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
38	rs558402986	chr14:19422367-19422368	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
39	rs28659938	chr14:19422742-19422743	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs376147594	chr14:19422743-19422744	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs61971317	chr14:19422757-19422758	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs567985091	chr14:19422791-19422792	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs534688677	chr14:19422797-19422798	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs553353911	chr14:19422814-19422815	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs532121549	chr14:19422975-19422976	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs578003707	chr14:19422997-19422998	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs112034562	chr14:19424425-19424426	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs531111963	chr14:19424879-19424880	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs369282772	chr14:19424960-19424961	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs28706756	chr14:19424976-19424977	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Schizophrenia	20967226	CNVD
Autism	19287141	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	20932292	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	17142309	CNVD
Rett syndrome	21593744	CNVD
Breast cancer	20369283	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Incontinentia Pigmenti	22033527	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
Breast cancer	21364760	CNVD
Oligozoospermia	20877625	CNVD
Sertoli-cell only syndrome	20877625	CNVD
Ependymoma	20639864	CNVD
Williams Syndrome	20824207	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glioma	20126413	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	23813976	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

Chromatin state (count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:19433200-19433800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr14:19433600-19433800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr14:19435400-19439200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr14:19444400-19444800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr14:19444400-19445200	ZNF genes & repeats	Fetal Lung	lung
6	chr14:19444400-19445800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr14:19444400-19446000	Active TSS	Fetal Heart	heart
8	chr14:19445000-19445200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:19462400-19462800	ZNF genes & repeats	Fetal Kidney	kidney
10	chr14:19500000-19500200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:19597000-19597600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr14:19597200-19597600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:19607400-19609600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr14:19608600-19609200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:19610800-19612800	Weak transcription	Fetal Lung	lung
16	chr14:19611000-19611200	Enhancers	Lung	lung
17	chr14:19611200-19612800	Weak transcription	Lung	lung
18	chr14:19612600-19615200	Weak transcription	Right Atrium	heart
19	chr14:19612800-19613400	ZNF genes & repeats	Fetal Kidney	kidney
20	chr14:19612800-19613400	ZNF genes & repeats	Fetal Lung	lung
21	chr14:19612800-19613400	ZNF genes & repeats	Lung	lung
22	chr14:19613000-19613200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:19613000-19613200	ZNF genes & repeats	Gastric	stomach
24	chr14:19613000-19613200	Bivalent Enhancer	K562	blood
25	chr14:19613000-19613400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr14:19613000-19613400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
27	chr14:19613000-19613400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr14:19613000-19613400	ZNF genes & repeats	Fetal Brain Male	brain
29	chr14:19613000-19613400	ZNF genes & repeats	Pancreas	Pancrea
30	chr14:19613000-19615000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr14:19613400-19614200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr14:19613400-19614400	Weak transcription	Pancreas	Pancrea
33	chr14:19613400-19614600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr14:19613400-19616200	Weak transcription	Fetal Lung	lung
35	chr14:19613600-19614200	Weak transcription	Lung	lung
36	chr14:19614200-19614800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr14:19614200-19614800	Active TSS	K562	blood
38	chr14:19614400-19614800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr14:19614400-19614800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr14:19614400-19614800	Bivalent Enhancer	Lung	lung
41	chr14:19614400-19614800	ZNF genes & repeats	Pancreas	Pancrea
42	chr14:19614400-19615000	Bivalent/Poised TSS	A549	lung
43	chr14:19614600-19614800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr14:19614600-19614800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
45	chr14:19614600-19614800	Bivalent Enhancer	Right Ventricle	heart
46	chr14:19614800-19616000	Weak transcription	Pancreas	Pancrea
47	chr14:19619800-19620000	Bivalent Enhancer	A549	lung
48	chr14:19641200-19641400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr14:19641200-19641400	Enhancers	K562	blood
50	chr14:19641200-19641600	Active TSS	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links