Variant report

Variant	nsv541439
Chromosome Location	chr12:30951520-31191197
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3375)
CpG islands
(count:1712)
Chromatin interactive
region (count:79)
LncRNA
region (count:27)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3375 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:30960385-30960701	K562	blood:	n/a	n/a
2	ARID3A	chr12:31004235-31004672	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:31000205-31000403	K562	blood:	n/a	n/a
4	ARID3A	chr12:30960402-30960728	HepG2	liver:	n/a	n/a
5	ATF1	chr12:31004151-31004724	K562	blood:	n/a	n/a
6	ATF1	chr12:31000259-31000452	K562	blood:	n/a	n/a
7	ATF2	chr12:31004199-31004464	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr12:31004105-31004862	GM12878	blood:	n/a	n/a
9	ATF2	chr12:31004134-31004752	GM12878	blood:	n/a	n/a
10	ATF3	chr12:31004380-31004732	K562	blood:	n/a	n/a
11	ATF3	chr12:30997485-30997702	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF3	chr12:31004423-31004766	GM12878	blood:	n/a	n/a
13	ATF3	chr12:31004501-31004709	K562	blood:	n/a	n/a
14	ATF3	chr12:30960342-30960750	K562	blood:	n/a	n/a
15	ATF3	chr12:30997473-30997746	GM12878	blood:	n/a	n/a
16	BACH1	chr12:31004188-31004310	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr12:30975205-30975733	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr12:31182528-31182802	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr12:31058566-31058806	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr12:30976034-30976283	H1-hESC	embryonic stem cell:	n/a	n/a
21	BATF	chr12:31011472-31011728	GM12878	blood:	n/a	n/a
22	BATF	chr12:31004050-31004706	GM12878	blood:	n/a	n/a
23	BATF	chr12:31004320-31004658	GM12878	blood:	n/a	n/a
24	BATF	chr12:31000166-31000449	GM12878	blood:	n/a	n/a
25	BCL11A	chr12:31004230-31004722	GM12878	blood:	n/a	n/a
26	BCL11A	chr12:31133143-31133385	GM12878	blood:	n/a	n/a
27	BCLAF1	chr12:31004100-31004539	GM12878	blood:	n/a	n/a
28	BCLAF1	chr12:31004139-31004547	GM12878	blood:	n/a	n/a
29	BHLHE40	chr12:31000346-31000462	K562	blood:	n/a	n/a
30	BHLHE40	chr12:31019398-31019413	A549	lung:	n/a	n/a
31	BHLHE40	chr12:31004212-31004742	HepG2	liver:	n/a	n/a
32	BHLHE40	chr12:31004107-31004756	GM12878	blood:	n/a	n/a
33	BHLHE40	chr12:31143178-31143220	A549	lung:	n/a	n/a
34	BHLHE40	chr12:31004075-31004746	K562	blood:	n/a	n/a
35	BHLHE40	chr12:30973543-30973784	HepG2	liver:	n/a	n/a
36	BHLHE40	chr12:30960272-30960571	K562	blood:	n/a	n/a
37	BHLHE40	chr12:31138858-31138979	K562	blood:	n/a	n/a
38	BHLHE40	chr12:31165039-31165126	K562	blood:	n/a	n/a
39	BHLHE40	chr12:30997578-30997668	K562	blood:	n/a	n/a
40	BHLHE40	chr12:31004408-31004754	HepG2	liver:	n/a	n/a
41	BRCA1	chr12:31004156-31004580	Hela-S3	cervix:	n/a	n/a
42	BRCA1	chr12:30997450-30997677	H1-hESC	embryonic stem cell:	n/a	n/a
43	BRCA1	chr12:31064092-31064111	H1-hESC	embryonic stem cell:	n/a	n/a
44	BRCA1	chr12:30975509-30976068	H1-hESC	embryonic stem cell:	n/a	chr12:30975617-30975626
45	BRCA1	chr12:31000183-31000447	Hela-S3	cervix:	n/a	n/a
46	BRCA1	chr12:30960371-30960762	Hela-S3	cervix:	n/a	n/a
47	CBX3	chr12:31000158-31000574	K562	blood:	n/a	n/a
48	CBX3	chr12:30957141-30957486	K562	blood:	n/a	n/a
49	CBX3	chr12:31000083-31000589	HCT-116	colon:	n/a	n/a
50	CBX3	chr12:30997373-30997929	HCT-116	colon:	n/a	n/a

(count:1712 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:31075924-31075974	HPAEpiC	pulmonary alveolar:	n/a
2	chr12:31130225-31130275	PANC-1	pancreas:	n/a
3	chr12:31118985-31119035	PrEC	prostate:	n/a
4	chr12:31083391-31083441	HIPEpiC	eye:	n/a
5	chr12:31075924-31075974	HPAEpiC	pulmonary alveolar:	n/a
6	chr12:31130225-31130275	PANC-1	pancreas:	n/a
7	chr12:31118985-31119035	PrEC	prostate:	n/a
8	chr12:31083391-31083441	HIPEpiC	eye:	n/a
9	chr12:31078979-31079029	HAEpiC	amniotic membrane:	n/a
10	chr12:31075924-31075974	PANC-1	pancreas:	n/a
11	chr12:31156691-31156741	GM12891	blood:	n/a
12	chr12:30975386-30975436	HPAEpiC	pulmonary alveolar:	n/a
13	chr12:31118985-31119035	NT2-D1	testis:	n/a
14	chr12:31078790-31078840	HCM	heart:	n/a
15	chr12:30975386-30975436	SK-N-SH	brain:	n/a
16	chr12:31078790-31078840	PrEC	prostate:	n/a
17	chr12:30976016-30976066	HepG2	liver:	n/a
18	chr12:31079583-31079633	HCM	heart:	n/a
19	chr12:31156691-31156741	BE2_C	brain:	n/a
20	chr12:31145469-31145519	GM12891	blood:	n/a
21	chr12:31078979-31079029	HRCEpiC	kidney:	n/a
22	chr12:30976867-30976917	HCT-116	colon:	n/a
23	chr12:31078790-31078840	K562	blood:	n/a
24	chr12:31062809-31062859	Jurkat	blood:	n/a
25	chr12:31079694-31079744	HAEpiC	amniotic membrane:	n/a
26	chr12:31079583-31079633	HRPEpiC	eye:	n/a
27	chr12:30978660-30978710	HEK293	kidney:	embryo
28	chr12:31062809-31062859	HPAEpiC	pulmonary alveolar:	n/a
29	chr12:31078790-31078840	HEK293	kidney:	embryo
30	chr12:31156691-31156741	AoSMC	blood vessel:	n/a
31	chr12:31145469-31145519	NB4	blood:	n/a
32	chr12:30978660-30978710	Jurkat	blood:	n/a
33	chr12:30975363-30975413	Hepatocyte	liver:	n/a
34	chr12:31075924-31075974	AoSMC	blood vessel:	n/a
35	chr12:31145469-31145519	T-47D	breast:	n/a
36	chr12:31149418-31149468	PFSK-1	brain:	n/a
37	chr12:30971626-30971676	AoSMC	blood vessel:	n/a
38	chr12:31189289-31189339	SK-N-SH_RA	brain:	n/a
39	chr12:31083391-31083441	HRE	kidney:	n/a
40	chr12:31156691-31156741	AG09309	skin:	n/a
41	chr12:31149418-31149468	NT2-D1	testis:	n/a
42	chr12:31075924-31075974	HCF	heart:	n/a
43	chr12:30975749-30975799	HepG2	liver:	n/a
44	chr12:30976001-30976051	HepG2	liver:	n/a
45	chr12:31145469-31145519	H1-hESC	embryonic stem cell:	embryo
46	chr12:31138958-31139008	U87	brain:	n/a
47	chr12:31078790-31078840	Hepatocyte	liver:	n/a
48	chr12:30976016-30976066	GM12878	blood:	n/a
49	chr12:31156691-31156741	AG04450	lung:	fetal
50	chr12:30976867-30976917	NB4	blood:	n/a

(count:79 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:30970537..30972535-chr12:30974405..30976921,2	K562	blood:
2	chr12:31082310..31084451-chr12:31104159..31107270,3	MCF-7	breast:
3	chr12:31122020..31124643-chr12:31127496..31129096,2	K562	blood:
4	chr12:31113324..31114881-chr12:31120140..31121725,2	K562	blood:
5	chr12:31063874..31066002-chr12:31083561..31086374,2	MCF-7	breast:
6	chr12:31061546..31062526-chr20:26189168..26190012,2	MCF-7	breast:
7	chr12:31003713..31004456-chr12:31138363..31139354,3	MCF-7	breast:
8	chr12:31063874..31066002-chr12:31083561..31086374,2	MCF-7	breast:
9	chr12:30999874..31000492-chr12:31398859..31399728,2	K562	blood:
10	chr12:31116301..31118839-chr12:31122102..31125851,3	K562	blood:
11	chr12:30949838..30951631-chr12:30954389..30956016,2	K562	blood:
12	chr12:31108040..31110070-chr12:31110418..31112146,2	K562	blood:
13	chr12:30948160..30949736-chr12:30957208..30960153,2	K562	blood:
14	chr12:31070913..31073527-chr12:31081618..31083991,3	MCF-7	breast:
15	chr12:31116301..31118839-chr12:31122102..31125851,3	K562	blood:
16	chr12:31118586..31119188-chr12:31138566..31139432,2	MCF-7	breast:
17	chr12:31105834..31108432-chr12:31108761..31111175,2	K562	blood:
18	chr12:31048548..31050529-chr12:31126004..31127624,2	MCF-7	breast:
19	chr12:31003713..31004456-chr12:31138363..31139354,3	MCF-7	breast:
20	chr12:31173555..31175653-chr12:31188660..31191059,2	MCF-7	breast:
21	chr12:31011986..31013519-chr14:39572376..39574186,2	MCF-7	breast:
22	chr12:31122291..31124648-chr12:31129528..31132132,2	K562	blood:
23	chr12:31114199..31115183-chr12:31138028..31138949,2	MCF-7	breast:
24	chr12:31012779..31013296-chr14:39572481..39573142,2	NB4	blood:
25	chr12:31007128..31008868-chr12:31015958..31017480,2	MCF-7	breast:
26	chr12:31149175..31150805-chr12:31151820..31154429,2	K562	blood:
27	chr12:31013018..31014008-chr14:39572613..39573373,2	Hela-S3	cervix:
28	chr12:31086101..31088564-chr12:31089320..31090867,2	K562	blood:
29	chr12:31105834..31108432-chr12:31108761..31111175,2	K562	blood:
30	chr12:29672644..29673178-chr12:30960221..30960740,2	MCF-7	breast:
31	chr12:31068113..31070208-chr12:31087806..31090681,2	K562	blood:
32	chr12:31004147..31004726-chr12:31088536..31089374,2	MCF-7	breast:
33	chr12:31048548..31050529-chr12:31126004..31127624,2	MCF-7	breast:
34	chr12:31118639..31119261-chr12:31138195..31139078,2	MCF-7	breast:
35	chr12:31063762..31066653-chr12:31068189..31070611,2	K562	blood:
36	chr12:31112508..31114318-chr12:31114721..31117661,2	K562	blood:
37	chr12:31063762..31066653-chr12:31068189..31070611,2	K562	blood:
38	chr12:31070913..31073527-chr12:31081618..31083991,3	MCF-7	breast:
39	chr12:30999859..31000781-chr12:31142534..31143349,2	K562	blood:
40	chr12:31122020..31124643-chr12:31127496..31129096,2	K562	blood:
41	chr12:31012992..31013500-chr14:39572706..39573244,2	MCF-7	breast:
42	chr12:31173555..31175653-chr12:31188660..31191059,2	MCF-7	breast:
43	chr12:30999859..31000781-chr12:31142534..31143349,2	K562	blood:
44	chr12:30985502..30987572-chr12:30990040..30992748,2	MCF-7	breast:
45	chr12:30978947..30981494-chr12:30984065..30986688,2	K562	blood:
46	chr12:31086101..31088564-chr12:31089320..31090867,2	K562	blood:
47	chr12:29672539..29673136-chr12:30960381..30960998,2	MCF-7	breast:
48	chr12:31012012..31014998-chr14:39572460..39574108,2	MCF-7	breast:
49	chr12:31008430..31010968-chr12:31012685..31015174,2	K562	blood:
50	chr12:29669971..29670947-chr12:30997067..30997929,2	MCF-7	breast:

(count:27 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TSPAN11-2	chr12:30958276-30959015	NONHSAT027516
2	lnc-TSPAN11-2	chr12:30953468-30953535	NONHSAT027515
3	lnc-TSPAN11-2	chr12:30954635-30955212	NONHSAT027516
4	lnc-TSPAN11-2	chr12:30954635-30954846	XLOC_009702
5	lnc-TSPAN11-2	chr12:30963492-30963541	NONHSAT027516
6	lnc-TSPAN11-2	chr12:30952844-30953245	NONHSAT027518
7	lnc-TSPAN11-2	chr12:30954635-30955193	XLOC_009702
8	lnc-TSPAN11-2	chr12:30953468-30953535	XLOC_009702
9	lnc-TSPAN11-2	chr12:30952847-30952942	ENSG00000235884.2
10	lnc-TSPAN11-2	chr12:30954635-30955645	NONHSAT027515
11	lnc-CAPRIN2-6	chr12:31104861-31104971	ucscGeneNc_uc001rjq_1
12	lnc-CAPRIN2-6	chr12:31117396-31117961	ucscGeneNc_uc001rjq_1
13	lnc-CAPRIN2-6	chr12:31064964-31066230	ucscGeneNc_uc001rjq_1
14	lnc-TSPAN11-2	chr12:30953468-30953535	XLOC_009702
15	lnc-CAPRIN2-5	chr12:31076691-31076831	NONHSAT027523
16	lnc-TSPAN11-2	chr12:30953321-30953674	NONHSAT027518
17	lnc-TSPAN11-2	chr12:30952893-30952955	XLOC_009702
18	lnc-TSPAN11-2	chr12:30953468-30953535	XLOC_009702
19	lnc-TSPAN11-2	chr12:30952847-30952955	XLOC_009702
20	lnc-TSPAN11-2	chr12:30952847-30952955	NONHSAT027515
21	lnc-CAPRIN2-5	chr12:31073397-31074125	NONHSAT027523
22	lnc-TSPAN11-2	chr12:30952847-30952955	XLOC_009702
23	lnc-TSPAN11-2	chr12:30952847-30952955	NONHSAT027516
24	lnc-TSPAN11-2	chr12:30953145-30953535	ENSG00000235884.2
25	lnc-TSPAN11-2	chr12:30953135-30953673	NONHSAT027516
26	lnc-TSPAN11-2	chr12:30954635-30954931	ENSG00000235884.2
27	lnc-TSPAN11-2	chr12:30954635-30955645	XLOC_009702

No data

Variant related genes	Relation type
ENSG00000226472	TF binding region
ENSG00000256984	TF binding region
ENSG00000258118	TF binding region
TSPAN11	TF binding region
LINC00941	TF binding region
ENSG00000226472	CpG island
ENSG00000256984	CpG island
ENSG00000258118	CpG island
TSPAN11	CpG island
LINC00941	CpG island
ENSG00000110888	chromatin interactions
ENSG00000258118	chromatin interactions
ENSG00000227195	chromatin interactions
ENSG00000246331	chromatin interactions
ENSG00000257456	chromatin interactions
ENSG00000100934	chromatin interactions
ENSG00000235884	chromatin interactions
ENSG00000256984	chromatin interactions
ADCY9	miRNA target sites
RABGGTB	miRNA target sites
SNRPB	miRNA target sites

Extended variants
information (count: 8726 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:8726 , 50 per page) page: 1 2 3 4 5 6 7 ... 175

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568960399	chr12:30951536-30951537	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529621591	chr12:30951544-30951545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185367	chr12:30951607-30951608	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs192498922	chr12:30951623-30951624	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185363041	chr12:30951659-30951660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547448344	chr12:30951679-30951680	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs377094508	chr12:30951713-30951714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540022037	chr12:30951726-30951727	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559436361	chr12:30951727-30951728	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556810019	chr12:30951730-30951731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529704875	chr12:30951734-30951735	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190161682	chr12:30951784-30951785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192776046	chr12:30951813-30951814	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs114159244	chr12:30951886-30951887	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs184749193	chr12:30951954-30951955	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs571793247	chr12:30951966-30951967	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs188242902	chr12:30951993-30951994	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs180682596	chr12:30952036-30952037	Weak transcription Strong transcription ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
19	rs138953908	chr12:30952054-30952055	Weak transcription Strong transcription ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
20	rs200730406	chr12:30952079-30952080	Weak transcription Strong transcription ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs12822194	chr12:30952082-30952083	Weak transcription Strong transcription ZNF genes & repeats	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs554466115	chr12:30952146-30952147	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs576224575	chr12:30952147-30952148	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs144678961	chr12:30952213-30952214	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs58072744	chr12:30952308-30952309	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185043064	chr12:30952317-30952318	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541167866	chr12:30952331-30952332	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs35806012	chr12:30952341-30952342	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs78603582	chr12:30952353-30952354	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78526539	chr12:30952354-30952355	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368719753	chr12:30952361-30952362	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559448511	chr12:30952379-30952380	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs34681447	chr12:30952407-30952408	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs12821941	chr12:30952451-30952452	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs561581374	chr12:30952471-30952472	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs531943228	chr12:30952495-30952496	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs189506428	chr12:30952517-30952518	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs7297266	chr12:30952585-30952586	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532702922	chr12:30952591-30952592	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552951996	chr12:30952651-30952652	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182293219	chr12:30952665-30952666	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565809557	chr12:30952684-30952685	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536263016	chr12:30952744-30952745	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568463781	chr12:30952783-30952784	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs256656	chr12:30952800-30952801	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs147284456	chr12:30952921-30952922	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
47	rs536993845	chr12:30952965-30952966	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
48	rs557462543	chr12:30952980-30952981	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
49	rs542453363	chr12:30953052-30953053	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
50	rs576973712	chr12:30953080-30953081	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
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
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Sertoli-cell only syndrome	20877625	CNVD
Autism	21865298	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Williams Syndrome	20824207	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:2626 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30949600-30952200	Weak transcription	HepG2	liver
2	chr12:30950200-30954600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:30950200-30956400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:30950200-30956600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:30950200-30960200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr12:30950200-30960200	Weak transcription	Pancreas	Pancrea
7	chr12:30950400-30951800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:30950400-30952600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr12:30950400-30952800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:30950400-30952800	Weak transcription	A549	lung
11	chr12:30950400-30953000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:30950400-30953000	Weak transcription	HMEC	breast
13	chr12:30950400-30954600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:30950400-30954600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:30950400-30957000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:30950400-30957200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:30950400-30960000	Weak transcription	HUVEC	blood vessel
18	chr12:30950400-30960200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:30950400-30960200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr12:30950400-30960200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:30950800-30952400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr12:30950800-30952600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr12:30950800-30954600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr12:30950800-30955800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr12:30950800-30957000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:30950800-30957000	Weak transcription	NHEK	skin
27	chr12:30950800-30960200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr12:30951000-30951800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr12:30951000-30951800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr12:30951000-30956400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:30951000-30956600	Strong transcription	NH-A	brain
32	chr12:30951200-30951600	Strong transcription	HSMM	muscle
33	chr12:30951200-30952000	Strong transcription	Osteobl	bone
34	chr12:30951200-30953800	Strong transcription	Hela-S3	cervix
35	chr12:30951200-30957000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr12:30951400-30955200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:30951400-30956400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr12:30951600-30958200	Weak transcription	HSMM	muscle
39	chr12:30951800-30952800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr12:30951800-30953800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
41	chr12:30951800-30955200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:30952000-30953000	Weak transcription	Osteobl	bone
43	chr12:30952200-30952800	Enhancers	HepG2	liver
44	chr12:30952400-30956600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:30952400-30956600	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr12:30952600-30954000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
47	chr12:30952600-30955600	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr12:30952800-30953600	Strong transcription	A549	lung
49	chr12:30952800-30954000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr12:30952800-30955800	Strong transcription	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links