Variant report

Variant	nsv541476
Chromosome Location	chr12:38453609-39029275
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3708)
CpG islands
(count:3177)
Chromatin interactive
region (count:44)
LncRNA
region (count:25)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3708 , 50 per page) page: 1 2 3 4 5 6 7 ... 75

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:38532537-38532888	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:38543626-38543997	K562	blood:	n/a	n/a
3	ARID3A	chr12:38710113-38710696	HepG2	liver:	n/a	chr12:38710204-38710220 chr12:38710205-38710221
4	ARID3A	chr12:38778647-38778789	HepG2	liver:	n/a	n/a
5	ARID3A	chr12:38710301-38710555	K562	blood:	n/a	n/a
6	ARID3A	chr12:38722213-38722403	K562	blood:	n/a	n/a
7	ARID3A	chr12:38722185-38722490	HepG2	liver:	n/a	n/a
8	ARID3A	chr12:38493896-38494086	K562	blood:	n/a	n/a
9	ARID3A	chr12:38518229-38518929	HepG2	liver:	n/a	n/a
10	ARID3A	chr12:38482212-38482642	K562	blood:	n/a	n/a
11	ATF1	chr12:38562455-38562511	K562	blood:	n/a	n/a
12	ATF1	chr12:38710296-38710661	K562	blood:	n/a	n/a
13	ATF1	chr12:38457173-38457374	K562	blood:	n/a	n/a
14	ATF1	chr12:38580930-38581004	K562	blood:	n/a	n/a
15	ATF1	chr12:38592349-38592545	K562	blood:	n/a	n/a
16	ATF2	chr12:38710159-38710775	GM12878	blood:	n/a	n/a
17	ATF2	chr12:38744225-38745089	GM12878	blood:	n/a	n/a
18	ATF2	chr12:38710293-38710713	GM12878	blood:	n/a	n/a
19	ATF2	chr12:38744101-38745067	GM12878	blood:	n/a	n/a
20	ATF3	chr12:38518161-38518657	A549	lung:	n/a	n/a
21	ATF3	chr12:38710219-38710780	A549	lung:	n/a	n/a
22	ATF3	chr12:38710223-38710780	A549	lung:	n/a	n/a
23	BACH1	chr12:38543625-38544007	K562	blood:	n/a	n/a
24	BACH1	chr12:38778825-38779049	H1-hESC	embryonic stem cell:	n/a	n/a
25	BACH1	chr12:38501131-38501616	K562	blood:	n/a	n/a
26	BACH1	chr12:38535652-38536024	K562	blood:	n/a	n/a
27	BACH1	chr12:38493592-38493998	K562	blood:	n/a	n/a
28	BACH1	chr12:38536600-38536974	K562	blood:	n/a	n/a
29	BACH1	chr12:38534226-38534319	K562	blood:	n/a	n/a
30	BACH1	chr12:38541011-38541384	K562	blood:	n/a	n/a
31	BACH1	chr12:38722036-38722207	H1-hESC	embryonic stem cell:	n/a	n/a
32	BACH1	chr12:38483362-38483596	K562	blood:	n/a	n/a
33	BATF	chr12:38514328-38514564	GM12878	blood:	n/a	n/a
34	BATF	chr12:38978937-38979254	GM12878	blood:	n/a	chr12:38978975-38978984 chr12:38979090-38979101
35	BATF	chr12:38780253-38780450	GM12878	blood:	n/a	chr12:38780343-38780354
36	BATF	chr12:38786453-38786734	GM12878	blood:	n/a	chr12:38786626-38786637
37	BATF	chr12:38710378-38710679	GM12878	blood:	n/a	n/a
38	BATF	chr12:38978987-38979244	GM12878	blood:	n/a	chr12:38979090-38979101
39	BATF	chr12:38744388-38744934	GM12878	blood:	n/a	n/a
40	BATF	chr12:38744451-38744982	GM12878	blood:	n/a	n/a
41	BATF	chr12:38710371-38710641	GM12878	blood:	n/a	n/a
42	BCL11A	chr12:38744355-38744996	GM12878	blood:	n/a	n/a
43	BCL11A	chr12:38710258-38710721	GM12878	blood:	n/a	n/a
44	BCL11A	chr12:38744417-38744818	GM12878	blood:	n/a	n/a
45	BCL3	chr12:38710209-38710812	A549	lung:	n/a	n/a
46	BCL3	chr12:38710141-38710775	A549	lung:	n/a	n/a
47	BCL3	chr12:38744447-38744862	GM12878	blood:	n/a	n/a
48	BCLAF1	chr12:38710098-38710795	GM12878	blood:	n/a	n/a
49	BCLAF1	chr12:38744312-38744895	GM12878	blood:	n/a	n/a
50	BCLAF1	chr12:38710352-38710785	K562	blood:	n/a	n/a

(count:3177 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:38714149-38714199	GM06990	blood:	n/a
2	chr12:38493678-38493728	PFSK-1	brain:	n/a
3	chr12:38557350-38557400	HepG2	liver:	n/a
4	chr12:38493678-38493728	HL-60	blood:	n/a
5	chr12:38532352-38532402	GM06990	blood:	n/a
6	chr12:38714149-38714199	GM06990	blood:	n/a
7	chr12:38493678-38493728	PFSK-1	brain:	n/a
8	chr12:38557350-38557400	HepG2	liver:	n/a
9	chr12:38493678-38493728	HL-60	blood:	n/a
10	chr12:38532352-38532402	GM06990	blood:	n/a
11	chr12:38806793-38806843	HRPEpiC	eye:	n/a
12	chr12:38546326-38546376	Jurkat	blood:	n/a
13	chr12:38535710-38535760	SK-N-SH_RA	brain:	n/a
14	chr12:38714149-38714199	Hepatocyte	liver:	n/a
15	chr12:38710491-38710541	HRPEpiC	eye:	n/a
16	chr12:38557136-38557186	NT2-D1	testis:	n/a
17	chr12:38546326-38546376	AG04449	skin:	fetal
18	chr12:38553846-38553896	A549	lung:	n/a
19	chr12:38806793-38806843	H1-hESC	embryonic stem cell:	embryo
20	chr12:38806793-38806843	HNPCEpiC	eye:	n/a
21	chr12:38547397-38547447	GM19239	blood:	n/a
22	chr12:38493714-38493764	RPTEC	kidney:	n/a
23	chr12:38555758-38555808	NB4	blood:	n/a
24	chr12:38548782-38548832	HEK293	kidney:	embryo
25	chr12:38547397-38547447	HCT-116	colon:	n/a
26	chr12:38550112-38550162	LNCaP	prostate:	n/a
27	chr12:38984007-38984057	HCF	heart:	n/a
28	chr12:38710433-38710483	SKMC	muscle:	n/a
29	chr12:38545214-38545264	AG04450	lung:	fetal
30	chr12:38554220-38554270	ovcar-3	ovarian:	n/a
31	chr12:38555758-38555808	NHBE	bronchial:	n/a
32	chr12:38806793-38806843	HRE	kidney:	n/a
33	chr12:38544936-38544986	GM19239	blood:	n/a
34	chr12:38532129-38532179	ECC-1	luminal epithelium:	n/a
35	chr12:38493714-38493764	NHBE	bronchial:	n/a
36	chr12:38595601-38595651	MCF10A-Er-Src	breast:	n/a
37	chr12:38531077-38531127	MCF-7	breast:	n/a
38	chr12:38551782-38551832	GM19239	blood:	n/a
39	chr12:38710504-38710554	HCF	heart:	n/a
40	chr12:38552636-38552686	MCF-7	breast:	n/a
41	chr12:38532129-38532179	HCPEpiC	choroid plexus:	n/a
42	chr12:38710452-38710502	SK-N-SH	brain:	n/a
43	chr12:38532614-38532664	GM12892	blood:	n/a
44	chr12:38710154-38710204	HRCEpiC	kidney:	n/a
45	chr12:38984007-38984057	GM12878	blood:	n/a
46	chr12:38595863-38595913	Caco-2	colon:	n/a
47	chr12:38556969-38557019	GM12891	blood:	n/a
48	chr12:38532129-38532179	AG04450	lung:	fetal
49	chr12:38710606-38710656	RPTEC	kidney:	n/a
50	chr12:38710606-38710656	NHBE	bronchial:	n/a

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:38722084..38722866-chr12:39667246..39667987,2	MCF-7	breast:
2	chr12:38542302..38543806-chr20:26188737..26191492,2	K562	blood:
3	chr12:38535401..38535902-chr2:133016817..133017415,2	MCF-7	breast:
4	chr12:38637847..38640659-chr12:38643822..38646474,2	K562	blood:
5	chr12:38676913..38678502-chr12:38709612..38711993,2	MCF-7	breast:
6	chr12:38843134..38845389-chr12:38847279..38849955,2	MCF-7	breast:
7	chr1:156185862..156186566-chr12:38543820..38544329,3	MCF-7	breast:
8	chr12:38543803..38545320-chr21:9824316..9826615,2	K562	blood:
9	chr12:38954957..38957532-chr12:38958850..38960983,2	K562	blood:
10	chr12:38532267..38533149-chr12:38709875..38710612,2	K562	blood:
11	chr1:156184890..156186421-chr12:38543820..38545329,2	MCF-7	breast:
12	chr12:38543320..38543832-chr21:9825931..9826770,2	K562	blood:
13	chr12:38845594..38847956-chr12:38851662..38853438,2	K562	blood:
14	chr1:186105531..186106141-chr12:38883322..38883955,2	MCF-7	breast:
15	chr12:38843134..38845389-chr12:38847279..38849955,2	MCF-7	breast:
16	chr12:34175001..34175865-chr12:38710413..38711151,3	HCT-116	colon:
17	chr12:38542325..38545309-chr16:33964713..33967583,2	K562	blood:
18	chr12:38778961..38781578-chr12:38784417..38786236,2	MCF-7	breast:
19	chr12:38990179..38991129-chr4:2331691..2332483,2	Hela-S3	cervix:
20	chr12:38917479..38920369-chr12:38920412..38922084,2	K562	blood:
21	chr12:38532568..38533113-chr12:39666750..39667387,2	K562	blood:
22	chr12:34241238..34243550-chr12:38853316..38855678,2	MCF-7	breast:
23	chr12:38536304..38537296-chr14:88237622..88238153,2	K562	blood:
24	chr12:38542306..38543824-chr20:26188496..26191492,2	K562	blood:
25	chr12:38532230..38532845-chr12:38709831..38710738,3	MCF-7	breast:
26	chr12:38837698..38839402-chr12:38841166..38843830,2	K562	blood:
27	chr12:38464739..38465619-chr4:45719335..45720093,2	MCF-7	breast:
28	chr12:38721798..38722714-chr12:39305427..39306254,2	MCF-7	breast:
29	chr1:156185820..156186795-chr12:38543314..38544329,6	MCF-7	breast:
30	chr12:38837698..38839402-chr12:38841166..38843830,2	K562	blood:
31	chr10:83534180..83535134-chr12:39026306..39026897,2	HCT-116	colon:
32	chr12:38778961..38781578-chr12:38784417..38786236,2	MCF-7	breast:
33	chr12:38536776..38537298-chr14:88237597..88238190,6	MCF-7	breast:
34	chr12:38637847..38640659-chr12:38643822..38646474,2	K562	blood:
35	chr12:34405769..34407368-chr12:38464924..38466718,2	K562	blood:
36	chr12:38845594..38847956-chr12:38851662..38853438,2	K562	blood:
37	chr12:38721916..38722780-chr12:39497511..39498068,2	MCF-7	breast:
38	chr12:38764399..38764899-chr18:71815043..71815544,2	Hela-S3	cervix:
39	chr12:38876753..38877648-chr6:116268599..116269448,2	MCF-7	breast:
40	chr12:38954957..38957532-chr12:38958850..38960983,2	K562	blood:
41	chr1:156184764..156186317-chr12:38543820..38545325,2	K562	blood:
42	chr12:38917479..38920369-chr12:38920412..38922084,2	K562	blood:
43	chr1:156185732..156186437-chr12:38543803..38544322,4	MCF-7	breast:
44	chr1:156185761..156186730-chr12:38543308..38544330,7	MCF-7	breast:

(count:25 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CPNE8-5	chr12:38832098-38832212	l_629_chr12:38821325-38838592_lung
2	lnc-CPNE8-1	chr12:38940187-38940279	ENSG00000258119
3	lnc-CPNE8-7	chr12:38472331-38472801	NONHSAT027673
4	lnc-CPNE8-5	chr12:38821326-38822703	l_629_chr12:38821325-38838592_lung
5	lnc-CPNE8-1	chr12:38983517-38983614	ENSG00000258119
6	lnc-CPNE8-1	chr12:38983132-38983232	XLOC_010050
7	lnc-ALG10B-4	chr12:38520814-38520995	NONHSAT027675
8	lnc-ALG10B-3	chr12:38847317-38847681	NONHSAT027682
9	lnc-CPNE8-1	chr12:38937979-38938333	ENSG00000258119
10	lnc-ALG10B-7	chr12:39020465-39020542	NONHSAT027688
11	lnc-CPNE8-6	chr12:38599188-38599814	NONHSAT027678
12	lnc-ALG10B-3	chr12:38847317-38847776	NONHSAT027683
13	lnc-CPNE8-1	chr12:38983132-38983232	ENSG00000258119
14	lnc-ALG10B-7	chr12:39009229-39009654	NONHSAT027688
15	lnc-CPNE8-1	chr12:38940187-38940310	XLOC_010050
16	lnc-ALG10B-3	chr12:38836308-38836412	NONHSAT027682
17	lnc-CPNE8-1	chr12:38940187-38940310	ENSG00000258119
18	lnc-CPNE8-5	chr12:38838505-38838592	l_629_chr12:38821325-38838592_lung
19	lnc-CPNE8-5	chr12:38824250-38824373	l_629_chr12:38821325-38838592_lung
20	lnc-CPNE8-1	chr12:38937980-38938333	XLOC_010050
21	lnc-ALG10B-4	chr12:38517498-38517593	NONHSAT027675
22	lnc-ALG10B-3	chr12:38846321-38846419	NONHSAT027683
23	lnc-CPNE8-1	chr12:38938130-38938378	ENSG00000258119
24	lnc-CPNE8-1	chr12:38983517-38983614	XLOC_010050
25	lnc-CPNE8-5	chr12:38837923-38838124	l_629_chr12:38821325-38838592_lung

No data

Variant related genes	Relation type
RNA5SP359	TF binding region
ENSG00000257173	TF binding region
TUBB8P5	TF binding region
ALG10B	TF binding region
ENSG00000253016	TF binding region
ENSG00000257292	TF binding region
ENSG00000258119	TF binding region
ENSG00000258278	TF binding region
ENSG00000266333	TF binding region
ENSG00000258360	TF binding region
RNA5SP358	TF binding region
ENSG00000257645	TF binding region
ENSG00000256878	TF binding region
RNA5SP359	CpG island
ENSG00000257173	CpG island
TUBB8P5	CpG island
ALG10B	CpG island
ENSG00000253016	CpG island
ENSG00000257292	CpG island
ENSG00000258119	CpG island
ENSG00000258278	CpG island
ENSG00000266333	CpG island
ENSG00000258360	CpG island
RNA5SP358	CpG island
ENSG00000257645	CpG island
ENSG00000256878	CpG island
ENSG00000264063	chromatin interactions
ENSG00000227195	chromatin interactions
ENSG00000139133	chromatin interactions
ENSG00000264462	chromatin interactions
ENSG00000141665	chromatin interactions
ENSG00000200434	chromatin interactions
ENSG00000175548	chromatin interactions
GREB1	miRNA target sites
NSF	miRNA target sites
SLC39A10	miRNA target sites
C1D	miRNA target sites
SLC39A14	miRNA target sites
ZFP1	miRNA target sites
HECTD3	miRNA target sites
SLC39A11	miRNA target sites

Extended variants
information (count: 16217 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:16217 , 50 per page) page: 1 2 3 4 5 6 7 ... 325

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546980222	chr12:38453619-38453620	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs375922555	chr12:38453662-38453663	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534707928	chr12:38453673-38453674	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4882258	chr12:38453686-38453687	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs4882311	chr12:38453687-38453688	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs536836035	chr12:38453688-38453689	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556768054	chr12:38453713-38453714	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186212054	chr12:38453729-38453730	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185756319	chr12:38453732-38453733	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150868300	chr12:38453740-38453741	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112486522	chr12:38453743-38453744	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189211344	chr12:38453789-38453790	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140000231	chr12:38453791-38453792	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4882312	chr12:38453798-38453799	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143893537	chr12:38453799-38453800	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4882259	chr12:38453805-38453806	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs116305019	chr12:38453819-38453820	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544027737	chr12:38453856-38453857	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539567403	chr12:38453862-38453863	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554328243	chr12:38453867-38453868	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs180840856	chr12:38453868-38453869	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115243969	chr12:38453877-38453878	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528449327	chr12:38453880-38453881	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548213248	chr12:38453901-38453902	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147270457	chr12:38453911-38453912	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184910370	chr12:38453931-38453932	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189666698	chr12:38453944-38453945	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75695969	chr12:38453950-38453951	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570586168	chr12:38453956-38453957	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79700406	chr12:38453964-38453965	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181593492	chr12:38453973-38453974	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553204723	chr12:38453974-38453975	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557796339	chr12:38453975-38453976	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566687488	chr12:38453978-38453979	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535406072	chr12:38453979-38453980	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191158146	chr12:38453980-38453981	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186262438	chr12:38453988-38453989	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112304799	chr12:38454002-38454003	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575400458	chr12:38454004-38454005	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4882313	chr12:38454011-38454012	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs557887557	chr12:38454016-38454017	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111673390	chr12:38454023-38454024	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140764563	chr12:38454026-38454027	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546093643	chr12:38454029-38454030	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201147269	chr12:38454047-38454048	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559982695	chr12:38454062-38454063	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528812902	chr12:38454064-38454065	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75621261	chr12:38454074-38454075	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576717603	chr12:38454087-38454088	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149766780	chr12:38454094-38454095	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Breast cancer	22522925	CNVD
Cancer	21272361	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20531469	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Osteosarcoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1466 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:38449000-38453800	Weak transcription	Right Atrium	heart
2	chr12:38450200-38453800	Weak transcription	Pancreas	Pancrea
3	chr12:38450600-38456600	Weak transcription	Gastric	stomach
4	chr12:38453200-38454000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr12:38453200-38454200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr12:38453400-38454200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr12:38453800-38454000	ZNF genes & repeats	Pancreas	Pancrea
8	chr12:38453800-38454000	ZNF genes & repeats	Right Atrium	heart
9	chr12:38456800-38458000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr12:38457000-38457400	Enhancers	HepG2	liver
11	chr12:38473400-38473800	Enhancers	HepG2	liver
12	chr12:38475600-38484400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:38475800-38476200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:38479400-38480200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:38479400-38482400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:38479400-38482800	Enhancers	GM12878-XiMat	blood
17	chr12:38479600-38479800	Enhancers	Primary T cells fromperipheralblood	blood
18	chr12:38479600-38479800	Enhancers	K562	blood
19	chr12:38479600-38481200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:38479800-38480200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
21	chr12:38479800-38480600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
22	chr12:38479800-38482200	Weak transcription	K562	blood
23	chr12:38480000-38480200	ZNF genes & repeats	Primary T cells from cord blood	blood
24	chr12:38480200-38480400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
25	chr12:38480200-38480400	Bivalent Enhancer	HepG2	liver
26	chr12:38480200-38481000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:38480200-38482400	Weak transcription	Primary T cells from cord blood	blood
28	chr12:38480400-38480600	Flanking Bivalent TSS/Enh	HepG2	liver
29	chr12:38482000-38482400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
30	chr12:38482200-38482600	Enhancers	K562	blood
31	chr12:38482400-38482600	Enhancers	Primary T cells from cord blood	blood
32	chr12:38482800-38483200	Weak transcription	GM12878-XiMat	blood
33	chr12:38483200-38483600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:38483200-38483800	Enhancers	GM12878-XiMat	blood
35	chr12:38484400-38485000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
36	chr12:38493200-38494000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:38493200-38494000	Active TSS	Primary T cells from cord blood	blood
38	chr12:38493200-38494000	Active TSS	HSMM	muscle
39	chr12:38493200-38494200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
40	chr12:38493200-38494200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:38493200-38494200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
42	chr12:38493200-38494200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
43	chr12:38493200-38494200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
44	chr12:38493200-38494200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:38493200-38494200	Active TSS	HUVEC	blood vessel
46	chr12:38493200-38494600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:38493400-38493600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr12:38493400-38493600	Bivalent/Poised TSS	Primary T cells fromperipheralblood	blood
49	chr12:38493400-38493800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:38493400-38493800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links