Variant report

Variant	nsv1045932
Chromosome Location	chr14:19117985-19877060
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3213)
CpG islands
(count:2320)
Chromatin interactive
region (count:0)
LncRNA
region (count:144)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:3213 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

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	chr14:19609027-19609227	K562	blood:	n/a	n/a
4	ATF1	chr14:19697695-19697910	K562	blood:	n/a	n/a
5	ATF1	chr14:19619825-19620010	K562	blood:	n/a	n/a
6	ATF1	chr14:19610591-19610826	K562	blood:	n/a	n/a
7	ATF1	chr14:19462190-19462538	K562	blood:	n/a	n/a
8	ATF1	chr14:19450073-19450214	K562	blood:	n/a	n/a
9	ATF1	chr14:19795048-19796237	K562	blood:	n/a	n/a
10	ATF1	chr14:19461425-19461537	K562	blood:	n/a	n/a
11	ATF1	chr14:19464826-19465023	K562	blood:	n/a	n/a
12	ATF1	chr14:19614523-19614771	K562	blood:	n/a	n/a
13	ATF1	chr14:19436953-19437483	K562	blood:	n/a	n/a
14	ATF3	chr14:19614578-19614850	K562	blood:	n/a	n/a
15	BACH1	chr14:19614506-19614753	K562	blood:	n/a	n/a
16	BACH1	chr14:19464051-19464239	K562	blood:	n/a	n/a
17	BACH1	chr14:19795663-19796213	K562	blood:	n/a	n/a
18	BACH1	chr14:19438368-19438886	K562	blood:	n/a	n/a
19	BACH1	chr14:19608951-19609223	K562	blood:	n/a	n/a
20	BACH1	chr14:19462184-19462510	K562	blood:	n/a	n/a
21	BATF	chr14:19123750-19124046	GM12878	blood:	n/a	n/a
22	BATF	chr14:19487460-19487744	GM12878	blood:	n/a	n/a
23	BATF	chr14:19827024-19827305	GM12878	blood:	n/a	n/a
24	BATF	chr14:19637495-19637851	GM12878	blood:	n/a	chr14:19637679-19637690
25	BATF	chr14:19548036-19548546	GM12878	blood:	n/a	n/a
26	BATF	chr14:19541484-19541694	GM12878	blood:	n/a	n/a
27	BATF	chr14:19135459-19135699	GM12878	blood:	n/a	n/a
28	BATF	chr14:19653590-19653843	GM12878	blood:	n/a	n/a
29	BATF	chr14:19183485-19183643	GM12878	blood:	n/a	chr14:19183575-19183586
30	BATF	chr14:19637509-19637829	GM12878	blood:	n/a	chr14:19637679-19637690
31	BATF	chr14:19135785-19136194	GM12878	blood:	n/a	n/a
32	BATF	chr14:19136515-19136845	GM12878	blood:	n/a	n/a
33	BATF	chr14:19135762-19136474	GM12878	blood:	n/a	n/a
34	BATF	chr14:19135407-19135704	GM12878	blood:	n/a	n/a
35	BATF	chr14:19748478-19748726	GM12878	blood:	n/a	n/a
36	BATF	chr14:19546952-19547321	GM12878	blood:	n/a	n/a
37	BATF	chr14:19548118-19548363	GM12878	blood:	n/a	n/a
38	BATF	chr14:19183487-19183665	GM12878	blood:	n/a	chr14:19183575-19183586
39	BATF	chr14:19541408-19541756	GM12878	blood:	n/a	n/a
40	BATF	chr14:19586478-19586681	GM12878	blood:	n/a	n/a
41	BCL11A	chr14:19135472-19135692	GM12878	blood:	n/a	n/a
42	BCL11A	chr14:19548084-19548501	GM12878	blood:	n/a	chr14:19548252-19548261
43	BCL11A	chr14:19637542-19637751	GM12878	blood:	n/a	n/a
44	BCL11A	chr14:19653966-19654150	GM12878	blood:	n/a	n/a
45	BCL11A	chr14:19827039-19827376	GM12878	blood:	n/a	n/a
46	BCL11A	chr14:19488926-19489115	GM12878	blood:	n/a	n/a
47	BCL11A	chr14:19826657-19827003	GM12878	blood:	n/a	n/a
48	BCL11A	chr14:19819837-19820033	GM12878	blood:	n/a	n/a
49	BCL11A	chr14:19135767-19136226	GM12878	blood:	n/a	n/a
50	BCL11A	chr14:19654370-19654535	GM12878	blood:	n/a	n/a

(count:2320 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:19641452-19641502	ECC-1	luminal epithelium:	n/a
2	chr14:19858845-19858895	CMK	blood:	n/a
3	chr14:19641452-19641502	ECC-1	luminal epithelium:	n/a
4	chr14:19858845-19858895	CMK	blood:	n/a
5	chr14:19602855-19602905	GM12878	blood:	n/a
6	chr14:19855113-19855163	LNCaP	prostate:	n/a
7	chr14:19686670-19686720	HEK293	kidney:	embryo
8	chr14:19747134-19747184	AG04450	lung:	fetal
9	chr14:19746900-19746950	Jurkat	blood:	n/a
10	chr14:19625154-19625204	A549	lung:	n/a
11	chr14:19614541-19614591	HRE	kidney:	n/a
12	chr14:19625820-19625870	SAEC	small airway:	n/a
13	chr14:19746900-19746950	HCT-116	colon:	n/a
14	chr14:19828288-19828338	HEK293	kidney:	embryo
15	chr14:19602855-19602905	AG04449	skin:	fetal
16	chr14:19360467-19360517	Hela-S3	cervix:	n/a
17	chr14:19745841-19745891	HEK293	kidney:	embryo
18	chr14:19719837-19719887	HAEpiC	amniotic membrane:	n/a
19	chr14:19421688-19421738	PFSK-1	brain:	n/a
20	chr14:19829406-19829456	Hepatocyte	liver:	n/a
21	chr14:19421688-19421738	GM12891	blood:	n/a
22	chr14:19686155-19686205	HEEpiC	esophagus:	n/a
23	chr14:19828288-19828338	PANC-1	pancreas:	n/a
24	chr14:19828288-19828338	HCPEpiC	choroid plexus:	n/a
25	chr14:19614556-19614606	NB4	blood:	n/a
26	chr14:19829406-19829456	HAEpiC	amniotic membrane:	n/a
27	chr14:19602855-19602905	AG09319	gingival:	n/a
28	chr14:19600442-19600492	Caco-2	colon:	n/a
29	chr14:19602855-19602905	HEK293	kidney:	embryo
30	chr14:19647166-19647216	GM06990	blood:	n/a
31	chr14:19686670-19686720	BE2_C	brain:	n/a
32	chr14:19614829-19614879	HCPEpiC	choroid plexus:	n/a
33	chr14:19719837-19719887	HCF	heart:	n/a
34	chr14:19360878-19360928	HepG2	liver:	n/a
35	chr14:19746900-19746950	NHDF-neo	bronchial:	n/a
36	chr14:19746900-19746950	PFSK-1	brain:	n/a
37	chr14:19597077-19597127	SAEC	small airway:	n/a
38	chr14:19828288-19828338	Hela-S3	cervix:	n/a
39	chr14:19602855-19602905	Hepatocyte	liver:	n/a
40	chr14:19719117-19719167	PrEC	prostate:	n/a
41	chr14:19562827-19562877	SK-N-SH_RA	brain:	n/a
42	chr14:19614541-19614591	HIPEpiC	eye:	n/a
43	chr14:19377109-19377159	HCF	heart:	n/a
44	chr14:19686155-19686205	NHBE	bronchial:	n/a
45	chr14:19855113-19855163	HEEpiC	esophagus:	n/a
46	chr14:19602855-19602905	HRE	kidney:	n/a
47	chr14:19626001-19626051	NHBE	bronchial:	n/a
48	chr14:19413192-19413242	Jurkat	blood:	n/a
49	chr14:19402845-19402895	GM19239	blood:	n/a
50	chr14:19585143-19585193	GM06990	blood:	n/a

No data

(count:144 , 50 per page) page: 1 2 3

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POTEG-6	chr14:19553365-19553937	NR_027480
2	lnc-POTEG-4	chr14:19655758-19655871	ENSG00000225210
3	lnc-OR11H12.1-5	chr14:19195252-19195750	NONHSAT035433
4	lnc-POTEG-4	chr14:19650021-19650126	ENSG00000225210
5	lnc-POTEG-4	chr14:19652244-19652354	NONHSAT035478
6	lnc-POTEM-6	chr14:19837830-19837836	ENSG00000257898.1
7	lnc-POTEG-5	chr14:19812176-19812247	ENSG00000258188.1
8	lnc-POTEG-3	chr14:19643174-19643316	NONHSAT035469
9	lnc-POTEM-8	chr14:19562689-19564808	ENSG00000258252
10	lnc-OR11H12.1-1	chr14:19412520-19412744	ENSG00000258364.1
11	lnc-POTEG-4	chr14:19680595-19680685	NONHSAT035478
12	lnc-POTEG-6	chr14:19563404-19563541	NR_027480
13	lnc-POTEM-8	chr14:19566286-19566731	ENSG00000258252
14	lnc-POTEG-7	chr14:19603204-19603279	NONHSAT035463
15	lnc-POTEG-3	chr14:19619448-19619513	NONHSAT035465
16	lnc-POTEM-9	chr14:19409573-19409681	NR_046104
17	lnc-POTEG-4	chr14:19650061-19650126	ENSG00000225210
18	lnc-POTEG-4	chr14:19691355-19691922	ENSG00000225210
19	lnc-POTEG-3	chr14:19646572-19646644	NONHSAT035469
20	lnc-POTEG-5	chr14:19859457-19859970	ENSG00000258188.1
21	lnc-POTEG-7	chr14:19602828-19602942	NONHSAT035463
22	lnc-POTEG-4	chr14:19650060-19650126	ENSG00000225210
23	lnc-POTEG-4	chr14:19656089-19656224	ENSG00000225210
24	lnc-POTEG-3	chr14:19626361-19626451	NONHSAT035469
25	lnc-POTEG-3	chr14:19643072-19643377	ENSG00000258314
26	lnc-POTEG-4	chr14:19650032-19650126	NR_110526
27	lnc-POTEG-3	chr14:19639008-19639483	NONHSAT035465
28	lnc-POTEG-1	chr14:19530730-19530898	ENSG00000258265.1
29	lnc-POTEG-6	chr14:19571348-19571418	NR_027480
30	lnc-POTEM-7	chr14:19678513-19678600	ENSG00000228294
31	lnc-POTEG-6	chr14:19573100-19573144	NR_027480
32	lnc-POTEG-4	chr14:19680595-19680685	NR_110526
33	lnc-POTEG-4	chr14:19653625-19653710	NONHSAT035478
34	lnc-POTEG-4	chr14:19655782-19655871	ENSG00000225210
35	lnc-POTEG-6	chr14:19584597-19584942	NR_027480
36	lnc-POTEM-15	chr14:19458358-19458713	NONHSAT035446
37	lnc-POTEG-4	chr14:19653723-19653772	NONHSAT035478
38	lnc-POTEM-5	chr14:19740033-19742744	ENSG00000257310
39	lnc-POTEM-7	chr14:19670792-19671105	ENSG00000228294
40	lnc-POTEG-3	chr14:19611768-19611964	ENSG00000258314.2
41	lnc-POTEG-4	chr14:19691355-19692916	NR_110526
42	lnc-POTEG-6	chr14:19558717-19558831	NR_027480
43	lnc-POTEG-2	chr14:19515341-19515613	ENSG00000257891.1
44	lnc-OR11H12.1-6	chr14:19118171-19118336	NONHSAT035431
45	lnc-POTEG-4	chr14:19653893-19654004	ENSG00000225210
46	lnc-POTEG-4	chr14:19650060-19650126	NONHSAT035478
47	lnc-POTEG-4	chr14:19653893-19654004	NR_110526
48	lnc-POTEG-6	chr14:19582971-19583089	NR_027480
49	lnc-POTEG-4	chr14:19691355-19691404	NONHSAT035478
50	lnc-POTEG-4	chr14:19691355-19695180	ENSG00000225210

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
ENSG00000258265	TF binding region
ENSG00000257558	TF binding region
ENSG00000238442	TF binding region
ENSG00000258364	TF binding region
ENSG00000257504	TF binding region
ENSG00000257175	TF binding region
ENSG00000257573	TF binding region
ARHGAP42P5	TF binding region
ENSG00000258314	TF binding region
OR11H13P	TF binding region
ENSG00000257731	TF binding region
ENSG00000257171	TF binding region
ENSG00000258198	TF binding region
RNU6-1239P	TF binding region
BMS1P17	TF binding region
ENSG00000258781	TF binding region
ENSG00000258252	TF binding region
NF1P4	TF binding region
ENSG00000257825	TF binding region
ENSG00000257891	TF binding region
ENSG00000257959	TF binding region
ENSG00000258076	TF binding region
ENSG00000271632	TF binding region
MED15P1	TF binding region
ENSG00000257635	TF binding region
ENSG00000257672	TF binding region
ENSG00000239200	TF binding region
ENSG00000225210	TF binding region
ENSG00000257310	TF binding region
RNU6-458P	TF binding region
ENSG00000257224	TF binding region
ENSG00000257749	TF binding region
ENSG00000258188	TF binding region
ENSG00000258367	TF binding region
ENSG00000257356	TF binding region
ENSG00000257721	TF binding region
ENSG00000257644	TF binding region
OR11H12	TF binding region
POTEG	TF binding region
DUXAP10	TF binding region
GRAMD4P3	CpG island
ENSG00000258265	CpG island
ENSG00000257558	CpG island
ENSG00000238442	CpG island
ENSG00000258364	CpG island
ENSG00000257504	CpG island
ENSG00000257175	CpG island
ENSG00000257573	CpG island
ARHGAP42P5	CpG island
ENSG00000258314	CpG island
OR11H13P	CpG island
ENSG00000257731	CpG island
ENSG00000257171	CpG island
ENSG00000258198	CpG island
RNU6-1239P	CpG island
BMS1P17	CpG island
ENSG00000258781	CpG island
ENSG00000258252	CpG island
NF1P4	CpG island
ENSG00000257825	CpG island
ENSG00000257891	CpG island
ENSG00000257959	CpG island
ENSG00000258076	CpG island
ENSG00000271632	CpG island
MED15P1	CpG island
ENSG00000257635	CpG island
ENSG00000257672	CpG island
ENSG00000239200	CpG island
ENSG00000225210	CpG island
ENSG00000257310	CpG island
RNU6-458P	CpG island
ENSG00000257224	CpG island
ENSG00000257749	CpG island
ENSG00000258188	CpG island
ENSG00000258367	CpG island
ENSG00000257356	CpG island
ENSG00000257721	CpG island
ENSG00000257644	CpG island
OR11H12	CpG island
POTEG	CpG island
DUXAP10	CpG island

Extended variants
information (count: 4660 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:4660 , 50 per page) page: 1 2 3 4 5 6 7 ... 94

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552772776	chr14:19118119-19118120	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs570573542	chr14:19118154-19118155	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs531386056	chr14:19118162-19118163	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs549846956	chr14:19118175-19118176	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs77434589	chr14:19118192-19118193	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs28740973	chr14:19118194-19118195	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs200265814	chr14:19118217-19118218	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs535416155	chr14:19118226-19118227	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs147013435	chr14:19118232-19118233	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs28526835	chr14:19118237-19118238	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs140014336	chr14:19118254-19118255	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs565806453	chr14:19118271-19118272	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs370815673	chr14:19118277-19118278	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs201578790	chr14:19118283-19118284	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs576970293	chr14:19118289-19118290	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs201813899	chr14:19118308-19118309	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs544291312	chr14:19118327-19118328	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs199716087	chr14:19118330-19118331	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs145546189	chr14:19118365-19118366	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs145722730	chr14:19118375-19118376	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs556174679	chr14:19118379-19118380	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs574755613	chr14:19118382-19118383	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs146152937	chr14:19118405-19118406	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs541832016	chr14:19118416-19118417	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs560859089	chr14:19118420-19118421	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs527941429	chr14:19118429-19118430	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs546419553	chr14:19118433-19118434	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs564664494	chr14:19118435-19118436	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs201691113	chr14:19118453-19118454	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs374546895	chr14:19118455-19118456	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs531472362	chr14:19118463-19118464	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs549884102	chr14:19118465-19118466	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs377177911	chr14:19124017-19124018	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs567582675	chr14:19124113-19124114	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs528668955	chr14:19124122-19124123	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs546740243	chr14:19124145-19124146	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs370801945	chr14:19124146-19124147	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs200139655	chr14:19124155-19124156	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs571054213	chr14:19124180-19124181	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs373185104	chr14:19124187-19124188	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs538720622	chr14:19124188-19124189	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs180970591	chr14:19124189-19124190	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs568815913	chr14:19124190-19124191	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs376827105	chr14:19193101-19193102	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs369352247	chr14:19193131-19193132	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs373158522	chr14:19193153-19193154	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs377446751	chr14:19193206-19193207	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs370015465	chr14:19193215-19193216	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs535477544	chr14:19193260-19193261	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs554079647	chr14:19193315-19193316	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Lung cancer	18438408	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
Breast cancer	21364760	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	22522925	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
Pancreatic cancer	17952125	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
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

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:19124000-19124200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:19265200-19265800	Active TSS	Fetal Heart	heart
3	chr14:19265400-19268400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:19265800-19266200	ZNF genes & repeats	Fetal Heart	heart
5	chr14:19265800-19268200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
6	chr14:19267800-19268200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:19433200-19433800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
8	chr14:19433600-19433800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr14:19435400-19439200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
10	chr14:19444400-19444800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr14:19444400-19445200	ZNF genes & repeats	Fetal Lung	lung
12	chr14:19444400-19445800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
13	chr14:19444400-19446000	Active TSS	Fetal Heart	heart
14	chr14:19445000-19445200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr14:19462400-19462800	ZNF genes & repeats	Fetal Kidney	kidney
16	chr14:19500000-19500200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:19597000-19597600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr14:19597200-19597600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:19607400-19609600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr14:19608600-19609200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:19610800-19612800	Weak transcription	Fetal Lung	lung
22	chr14:19611000-19611200	Enhancers	Lung	lung
23	chr14:19611200-19612800	Weak transcription	Lung	lung
24	chr14:19612600-19615200	Weak transcription	Right Atrium	heart
25	chr14:19612800-19613400	ZNF genes & repeats	Fetal Kidney	kidney
26	chr14:19612800-19613400	ZNF genes & repeats	Fetal Lung	lung
27	chr14:19612800-19613400	ZNF genes & repeats	Lung	lung
28	chr14:19613000-19613200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:19613000-19613200	ZNF genes & repeats	Gastric	stomach
30	chr14:19613000-19613200	Bivalent Enhancer	K562	blood
31	chr14:19613000-19613400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr14:19613000-19613400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
33	chr14:19613000-19613400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr14:19613000-19613400	ZNF genes & repeats	Fetal Brain Male	brain
35	chr14:19613000-19613400	ZNF genes & repeats	Pancreas	Pancrea
36	chr14:19613000-19615000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr14:19613400-19614200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr14:19613400-19614400	Weak transcription	Pancreas	Pancrea
39	chr14:19613400-19614600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr14:19613400-19616200	Weak transcription	Fetal Lung	lung
41	chr14:19613600-19614200	Weak transcription	Lung	lung
42	chr14:19614200-19614800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr14:19614200-19614800	Active TSS	K562	blood
44	chr14:19614400-19614800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr14:19614400-19614800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr14:19614400-19614800	Bivalent Enhancer	Lung	lung
47	chr14:19614400-19614800	ZNF genes & repeats	Pancreas	Pancrea
48	chr14:19614400-19615000	Bivalent/Poised TSS	A549	lung
49	chr14:19614600-19614800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr14:19614600-19614800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links