Variant report

Variant	nsv817488
Chromosome Location	chr1:242330066-243121127
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3694)
CpG islands
(count:2325)
Chromatin interactive
region (count:85)
LncRNA
region (count:31)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3694 , 50 per page) page: 1 2 3 4 5 6 7 ... 74

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:242374596-242374843	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:242588617-242588811	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:243088083-243088303	K562	blood:	n/a	n/a
4	ATF1	chr1:242446572-242446576	K562	blood:	n/a	n/a
5	ATF2	chr1:242749196-242749772	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr1:242976778-242977056	GM12878	blood:	n/a	n/a
7	ATF2	chr1:242388834-242389344	GM12878	blood:	n/a	n/a
8	ATF2	chr1:242343090-242343519	GM12878	blood:	n/a	n/a
9	ATF2	chr1:242349067-242349387	GM12878	blood:	n/a	n/a
10	ATF2	chr1:242388576-242389413	GM12878	blood:	n/a	n/a
11	ATF3	chr1:242388796-242389447	A549	lung:	n/a	n/a
12	ATF3	chr1:242388881-242389752	A549	lung:	n/a	n/a
13	BACH1	chr1:242996994-242996997	K562	blood:	n/a	n/a
14	BACH1	chr1:242802067-242802078	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr1:242618940-242618963	K562	blood:	n/a	n/a
16	BACH1	chr1:242359546-242359693	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr1:242918799-242919176	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr1:242765415-242765554	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr1:242686703-242687743	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr1:242848092-242848258	K562	blood:	n/a	n/a
21	BACH1	chr1:242908535-242908689	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr1:242907415-242907671	H1-hESC	embryonic stem cell:	n/a	n/a
23	BATF	chr1:242349064-242349300	GM12878	blood:	n/a	n/a
24	BATF	chr1:242588702-242588830	GM12878	blood:	n/a	n/a
25	BATF	chr1:242343038-242343433	GM12878	blood:	n/a	n/a
26	BATF	chr1:242388659-242388935	GM12878	blood:	n/a	n/a
27	BATF	chr1:242343107-242343366	GM12878	blood:	n/a	n/a
28	BATF	chr1:242349079-242349337	GM12878	blood:	n/a	n/a
29	BATF	chr1:242388281-242389342	GM12878	blood:	n/a	n/a
30	BATF	chr1:242512997-242513219	GM12878	blood:	n/a	n/a
31	BATF	chr1:242406021-242406263	GM12878	blood:	n/a	n/a
32	BATF	chr1:242404324-242404602	GM12878	blood:	n/a	n/a
33	BCL11A	chr1:242976760-242977140	GM12878	blood:	n/a	chr1:242976959-242976968
34	BCL11A	chr1:242342269-242342637	H1-hESC	embryonic stem cell:	n/a	n/a
35	BCL11A	chr1:242976721-242977165	GM12878	blood:	n/a	chr1:242976959-242976968
36	BCL11A	chr1:242388333-242389298	GM12878	blood:	n/a	n/a
37	BCL11A	chr1:242349063-242349337	GM12878	blood:	n/a	n/a
38	BCL11A	chr1:242749309-242749565	H1-hESC	embryonic stem cell:	n/a	n/a
39	BCL11A	chr1:242343069-242343372	GM12878	blood:	n/a	n/a
40	BCL11A	chr1:242342327-242342487	H1-hESC	embryonic stem cell:	n/a	n/a
41	BCL3	chr1:242382595-242383234	A549	lung:	n/a	n/a
42	BCL3	chr1:242349126-242349356	GM12878	blood:	n/a	n/a
43	BCL3	chr1:242403292-242403905	A549	lung:	n/a	n/a
44	BCL3	chr1:242388790-242389876	A549	lung:	n/a	n/a
45	BCL3	chr1:242400192-242400753	A549	lung:	n/a	n/a
46	BCL3	chr1:242843399-242843681	GM12878	blood:	n/a	n/a
47	BCL3	chr1:242349075-242349372	GM12878	blood:	n/a	n/a
48	BCL3	chr1:242402519-242403128	A549	lung:	n/a	n/a
49	BCL3	chr1:242388773-242389831	A549	lung:	n/a	n/a
50	BCL3	chr1:242843343-242843676	GM12878	blood:	n/a	n/a

(count:2325 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:242687412-242687462	SAEC	small airway:	n/a
2	chr1:242613245-242613295	HAEpiC	amniotic membrane:	n/a
3	chr1:242690733-242690783	HNPCEpiC	eye:	n/a
4	chr1:242690593-242690643	AG09309	skin:	n/a
5	chr1:242688320-242688370	A549	lung:	n/a
6	chr1:242936925-242936975	HCT-116	colon:	n/a
7	chr1:242653362-242653412	NB4	blood:	n/a
8	chr1:242687412-242687462	SAEC	small airway:	n/a
9	chr1:242613245-242613295	HAEpiC	amniotic membrane:	n/a
10	chr1:242690733-242690783	HNPCEpiC	eye:	n/a
11	chr1:242690593-242690643	AG09309	skin:	n/a
12	chr1:242688320-242688370	A549	lung:	n/a
13	chr1:242936925-242936975	HCT-116	colon:	n/a
14	chr1:242653362-242653412	NB4	blood:	n/a
15	chr1:242687527-242687577	T-47D	breast:	n/a
16	chr1:242349206-242349256	ovcar-3	ovarian:	n/a
17	chr1:242688523-242688573	HAEpiC	amniotic membrane:	n/a
18	chr1:242613245-242613295	GM12891	blood:	n/a
19	chr1:242687465-242687515	BJ	skin:	n/a
20	chr1:242612849-242612899	PANC-1	pancreas:	n/a
21	chr1:242653362-242653412	A549	lung:	n/a
22	chr1:242688681-242688731	MCF-7	breast:	n/a
23	chr1:242936925-242936975	U87	brain:	n/a
24	chr1:242767727-242767777	Hela-S3	cervix:	n/a
25	chr1:242613203-242613253	A549	lung:	n/a
26	chr1:242688226-242688276	RPTEC	kidney:	n/a
27	chr1:242605061-242605111	H1-hESC	embryonic stem cell:	embryo
28	chr1:242349206-242349256	HNPCEpiC	eye:	n/a
29	chr1:242613203-242613253	SAEC	small airway:	n/a
30	chr1:242605061-242605111	HCM	heart:	n/a
31	chr1:242688144-242688194	HIPEpiC	eye:	n/a
32	chr1:242688591-242688641	PrEC	prostate:	n/a
33	chr1:242690733-242690783	NB4	blood:	n/a
34	chr1:242687412-242687462	T-47D	breast:	n/a
35	chr1:243053865-243053915	HEK293	kidney:	embryo
36	chr1:242767727-242767777	Hepatocyte	liver:	n/a
37	chr1:242684042-242684092	MCF-7	breast:	n/a
38	chr1:243050875-243050925	GM12891	blood:	n/a
39	chr1:243053673-243053723	AG10803	skin:	n/a
40	chr1:243050875-243050925	HCM	heart:	n/a
41	chr1:242684042-242684092	RPTEC	kidney:	n/a
42	chr1:242611826-242611876	BJ	skin:	n/a
43	chr1:242937866-242937916	HRE	kidney:	n/a
44	chr1:242612849-242612899	IMR90	lung:	fetal
45	chr1:242687527-242687577	SKMC	muscle:	n/a
46	chr1:242686709-242686759	BJ	skin:	n/a
47	chr1:243053425-243053475	PANC-1	pancreas:	n/a
48	chr1:242612787-242612837	HRPEpiC	eye:	n/a
49	chr1:242767727-242767777	MCF-7	breast:	n/a
50	chr1:242749065-242749115	HRCEpiC	kidney:	n/a

(count:85 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:242867321..242869149-chr1:242869227..242872156,2	MCF-7	breast:
2	chr1:242617811..242618559-chr1:242630673..242631426,2	MCF-7	breast:
3	chr1:242595107..242597872-chr1:242601027..242602558,2	K562	blood:
4	chr1:242617838..242618342-chr1:242955947..242956813,2	MCF-7	breast:
5	chr1:243019974..243021671-chr1:243028235..243030687,2	K562	blood:
6	chr1:242938370..242940205-chr1:242949135..242951746,2	K562	blood:
7	chr1:243080510..243082193-chr1:243083721..243085385,2	K562	blood:
8	chr1:242616929..242619643-chr1:242629672..242631653,2	K562	blood:
9	chr1:242353836..242355949-chr1:242363634..242366630,2	K562	blood:
10	chr1:242690016..242691872-chr1:242693633..242696620,2	K562	blood:
11	chr1:242617838..242618342-chr1:242955947..242956813,2	MCF-7	breast:
12	chr1:242388720..242391190-chr1:242392275..242394962,3	MCF-7	breast:
13	chr1:242334854..242337802-chr1:242340893..242343109,2	MCF-7	breast:
14	chr1:242616929..242619643-chr1:242629672..242631653,2	K562	blood:
15	chr1:242725284..242727359-chr1:242740097..242742633,2	K562	blood:
16	chr1:242626775..242629510-chr1:242632318..242634678,2	K562	blood:
17	chr1:242391078..242393994-chr1:242400532..242402994,2	MCF-7	breast:
18	chr1:243003845..243005366-chr1:243007691..243009298,2	K562	blood:
19	chr1:242617811..242618559-chr1:242630673..242631426,2	MCF-7	breast:
20	chr1:242595107..242597872-chr1:242601027..242602558,2	K562	blood:
21	chr1:242183008..242183632-chr1:242588513..242589035,2	MCF-7	breast:
22	chr1:242608265..242609787-chr20:56286531..56288293,2	MCF-7	breast:
23	chr1:242731452..242733233-chr1:242737501..242739906,2	K562	blood:
24	chr1:242387764..242390407-chr1:242402354..242404271,2	MCF-7	breast:
25	chr1:242182892..242183793-chr1:242638283..242638859,2	MCF-7	breast:
26	chr1:243080510..243082193-chr1:243083721..243085385,2	K562	blood:
27	chr1:243019974..243021671-chr1:243028235..243030687,2	K562	blood:
28	chr1:242989477..242991101-chr1:242991941..242994002,2	K562	blood:
29	chr1:243028092..243030417-chr1:243031884..243034309,2	K562	blood:
30	chr1:242344558..242347409-chr1:242350180..242352444,2	MCF-7	breast:
31	chr1:242731452..242733233-chr1:242737501..242739906,2	K562	blood:
32	chr1:242991254..242992220-chr1:243099841..243100636,3	MCF-7	breast:
33	chr1:242998388..243001295-chr1:243002456..243004745,2	K562	blood:
34	chr1:242388720..242391190-chr1:242392275..242394962,3	MCF-7	breast:
35	chr1:242868996..242871474-chr1:242872273..242874608,2	K562	blood:
36	chr1:242867321..242869149-chr1:242869227..242872156,2	MCF-7	breast:
37	chr1:242907367..242907987-chr1:242917774..242918489,2	MCF-7	breast:
38	chr1:242391078..242393994-chr1:242400532..242402994,2	MCF-7	breast:
39	chr1:242595852..242597675-chr1:242599631..242602192,2	MCF-7	breast:
40	chr1:243028092..243030417-chr1:243031884..243034309,2	K562	blood:
41	chr1:242570206..242572074-chr1:242586277..242589124,2	K562	blood:
42	chr1:242363202..242365570-chr1:242368002..242370016,2	K562	blood:
43	chr1:242989477..242991101-chr1:242991941..242994002,2	K562	blood:
44	chr1:242334854..242337802-chr1:242340893..242343109,2	MCF-7	breast:
45	chr1:242576728..242577460-chr2:3592302..3593192,2	MCF-7	breast:
46	chr1:242590294..242592687-chr1:242593690..242595305,2	K562	blood:
47	chr1:242725284..242727359-chr1:242740097..242742633,2	K562	blood:
48	chr1:242389704..242391777-chr1:242398206..242400493,2	MCF-7	breast:
49	chr1:243028922..243031643-chr1:243036505..243039074,2	K562	blood:
50	chr1:242868996..242871474-chr1:242872273..242874608,2	K562	blood:

(count:31 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CEP170-7	chr1:243078426-243078834	expReg_chr1_22680_-
2	lnc-EXO1-9	chr1:242338601-242338936	NONHSAT010562
3	lnc-EXO1-9	chr1:242337290-242337520	NONHSAT010562
4	lnc-EXO1-10	chr1:242341031-242341205	ENSG00000272865.1
5	lnc-EXO1-2	chr1:242373671-242374129	ENSG00000224525.2
6	lnc-SDCCAG8-4	chr1:242834442-242834878	NONHSAT010573
7	lnc-PLD5-1	chr1:242690923-242691021	NONHSAT010569
8	lnc-PLD5-2	chr1:242717038-242717147	XLOC_001281
9	lnc-MAP1LC3C-7	chr1:242681118-242681325	expReg_chr1_22661_-
10	lnc-EXO1-2	chr1:242372565-242372637	ENSG00000224525.1
11	lnc-EXO1-10	chr1:242372394-242372431	ENSG00000272865.1
12	lnc-MAP1LC3C-6	chr1:242680432-242680918	expReg_chr1_22659_-
13	lnc-MAP1LC3C-5	chr1:242676012-242676332	expReg_chr1_22653_-
14	lnc-EXO1-10	chr1:242341597-242341667	ENSG00000272865.1
15	lnc-MAP1LC3C-4	chr1:242654836-242655140	expReg_chr1_22645_-
16	lnc-PLD5-2	chr1:242717724-242718022	XLOC_001281
17	lnc-MAP1LC3C-1	chr1:242373671-242373825	ENSG00000232689.1
18	lnc-MAP1LC3C-1	chr1:242366857-242367045	ENSG00000232689.1
19	lnc-EXO1-2	chr1:242372520-242372637	ENSG00000224525.2
20	lnc-EXO1-2	chr1:242373671-242374129	ENSG00000224525.1
21	lnc-MAP1LC3C-3	chr1:242654490-242654577	NONHSAT010568
22	lnc-CEP170-9	chr1:243070564-243075269	refGeneNc_994_NR_026778
23	lnc-MAP1LC3C-1	chr1:242372520-242372637	ENSG00000232689.1
24	lnc-EXO1-10	chr1:242355457-242355606	ENSG00000272865.1
25	lnc-MAP1LC3C-3	chr1:242652877-242653660	NONHSAT010568
26	lnc-CEP170-9	chr1:243076807-243077141	expReg_chr1_22678_-
27	lnc-CEP170-8	chr1:243077153-243077520	expReg_chr1_22679_-
28	lnc-PLD5-1	chr1:242692647-242692740	NONHSAT010569
29	lnc-EXO1-2	chr1:242366857-242367045	ENSG00000224525.2
30	lnc-PLD5-1	chr1:242693049-242693341	NONHSAT010569
31	lnc-CEP170-9	chr1:243076529-243076866	refGeneNc_994_NR_026778

No data

Variant related genes	Relation type
ENSG00000270859	TF binding region
ENSG00000235467	TF binding region
ENSG00000270818	TF binding region
RN7SKP12	TF binding region
PLD5	TF binding region
ENSG00000213690	TF binding region
RSL24D1P4	TF binding region
ENSG00000264972	TF binding region
ENSG00000226750	TF binding region
ENSG00000224525	TF binding region
ENSG00000270859	CpG island
ENSG00000235467	CpG island
ENSG00000270818	CpG island
RN7SKP12	CpG island
PLD5	CpG island
ENSG00000213690	CpG island
RSL24D1P4	CpG island
ENSG00000264972	CpG island
ENSG00000226750	CpG island
ENSG00000224525	CpG island
ENSG00000090266	chromatin interactions
ENSG00000124225	chromatin interactions
ENSG00000252084	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000240889	chromatin interactions
ENSG00000213690	chromatin interactions
ENSG00000180287	chromatin interactions
DAB2IP	miRNA target sites
DACT1	miRNA target sites

Extended variants
information (count: 27518 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:27518 , 50 per page) page: 1 2 3 4 5 6 7 ... 551

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186501301	chr1:242330075-242330076	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543615111	chr1:242330139-242330140	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571050085	chr1:242330150-242330151	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565482084	chr1:242330179-242330180	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536744463	chr1:242330200-242330201	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566582274	chr1:242330364-242330365	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200649069	chr1:242330372-242330373	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201629345	chr1:242330375-242330376	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs199946254	chr1:242330376-242330377	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201147270	chr1:242330378-242330379	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571199276	chr1:242330379-242330380	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577417357	chr1:242330380-242330381	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377540462	chr1:242330381-242330382	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538599299	chr1:242330410-242330411	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199764889	chr1:242330416-242330417	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571998418	chr1:242330417-242330418	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs66868518	chr1:242330418-242330419	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2636246	chr1:242330463-242330464	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs188147740	chr1:242330476-242330477	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs180991280	chr1:242330479-242330480	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377114319	chr1:242330487-242330488	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139881613	chr1:242330554-242330555	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545185870	chr1:242330637-242330638	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565064406	chr1:242330666-242330667	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116224513	chr1:242330694-242330695	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532649337	chr1:242330695-242330696	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7549662	chr1:242330718-242330719	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs142113305	chr1:242330719-242330720	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546979933	chr1:242330740-242330741	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150782505	chr1:242330756-242330757	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557317041	chr1:242330769-242330770	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532656366	chr1:242330820-242330821	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548155345	chr1:242330874-242330875	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143917125	chr1:242330882-242330883	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569083942	chr1:242330925-242330926	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536778084	chr1:242330931-242330932	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550613409	chr1:242330982-242330983	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567174741	chr1:242330996-242330997	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536200361	chr1:242331069-242331070	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs316895	chr1:242331083-242331084	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs573218280	chr1:242331084-242331085	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531371312	chr1:242331110-242331111	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538931294	chr1:242331133-242331134	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558816232	chr1:242331137-242331138	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs386641241	chr1:242331156-242331157	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369923893	chr1:242331177-242331178	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575496213	chr1:242331202-242331203	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544395976	chr1:242331239-242331240	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185617834	chr1:242331297-242331298	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574748903	chr1:242331311-242331312	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:2341 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242322000-242332400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:242325800-242331000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:242327800-242351200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:242329600-242330600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:242330000-242331000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:242330000-242331400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
7	chr1:242330600-242331200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:242331000-242331600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:242331000-242334600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:242331200-242334400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
11	chr1:242331600-242341200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:242332400-242333000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:242333000-242333600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:242333000-242348200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:242333400-242341000	Weak transcription	Aorta	Aorta
16	chr1:242339000-242341000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:242340400-242348200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:242341000-242341200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:242341000-242341200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:242341000-242341200	ZNF genes & repeats	Aorta	Aorta
21	chr1:242341000-242342000	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr1:242341000-242344600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr1:242341000-242344600	Enhancers	Brain Substantia Nigra	brain
24	chr1:242341200-242341400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:242341200-242341400	Strong transcription	Aorta	Aorta
26	chr1:242341200-242342000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
27	chr1:242341200-242342000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:242341200-242342200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr1:242341200-242342600	Enhancers	Brain Angular Gyrus	brain
30	chr1:242341200-242343600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:242341200-242344000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:242341200-242344400	Enhancers	Brain Cingulate Gyrus	brain
33	chr1:242341200-242344600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:242341200-242344600	Enhancers	Brain Hippocampus Middle	brain
35	chr1:242341400-242342000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr1:242341400-242342200	Weak transcription	Aorta	Aorta
37	chr1:242341400-242342800	Enhancers	Brain Germinal Matrix	brain
38	chr1:242341400-242343600	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr1:242341400-242343600	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr1:242341400-242343600	Enhancers	Brain Anterior Caudate	brain
41	chr1:242341400-242344400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:242341600-242342600	Enhancers	Fetal Brain Female	brain
43	chr1:242341600-242342800	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr1:242341600-242343000	Enhancers	Fetal Brain Male	brain
45	chr1:242341600-242343600	Enhancers	H1 Cell Line	embryonic stem cell
46	chr1:242341800-242342200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr1:242341800-242343000	Enhancers	H9 Cell Line	embryonic stem cell
48	chr1:242341800-242343600	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr1:242342000-242342200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
50	chr1:242342000-242342200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links