Variant report

Variant	nsv9431
Chromosome Location	chr16:30190537-30229846
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2045)
CpG islands
(count:1347)
Chromatin interactive
region (count:35)
LncRNA
region (count:18)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:2045 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:30194725-30194739	HepG2	liver:	n/a	n/a
2	ATF1	chr16:30198455-30198718	K562	blood:	n/a	n/a
3	ATF2	chr16:30195759-30196132	GM12878	blood:	n/a	n/a
4	ATF2	chr16:30198083-30199160	GM12878	blood:	n/a	n/a
5	ATF2	chr16:30194769-30195107	GM12878	blood:	n/a	n/a
6	ATF2	chr16:30193876-30194374	GM12878	blood:	n/a	n/a
7	ATF2	chr16:30198423-30199069	GM12878	blood:	n/a	n/a
8	ATF2	chr16:30196503-30197466	GM12878	blood:	n/a	n/a
9	ATF2	chr16:30195156-30197910	GM12878	blood:	n/a	n/a
10	BACH1	chr16:30198003-30198007	K562	blood:	n/a	n/a
11	BACH1	chr16:30198528-30198904	K562	blood:	n/a	n/a
12	BACH1	chr16:30198613-30198914	H1-hESC	embryonic stem cell:	n/a	n/a
13	BATF	chr16:30204418-30205489	GM12878	blood:	n/a	n/a
14	BATF	chr16:30221859-30222069	GM12878	blood:	n/a	n/a
15	BCL11A	chr16:30221855-30222106	GM12878	blood:	n/a	n/a
16	BCL11A	chr16:30204786-30205053	GM12878	blood:	n/a	n/a
17	BCL11A	chr16:30197818-30198265	GM12878	blood:	n/a	n/a
18	BCL11A	chr16:30202309-30202711	GM12878	blood:	n/a	n/a
19	BCL11A	chr16:30203933-30205250	GM12878	blood:	n/a	n/a
20	BCL11A	chr16:30203419-30203820	GM12878	blood:	n/a	n/a
21	BCL3	chr16:30198207-30199080	A549	lung:	n/a	n/a
22	BCL3	chr16:30195266-30195671	GM12878	blood:	n/a	chr16:30195642-30195655
23	BCLAF1	chr16:30194550-30195085	GM12878	blood:	n/a	chr16:30194870-30194879 chr16:30194825-30194838
24	BCLAF1	chr16:30195097-30199113	GM12878	blood:	n/a	chr16:30195642-30195655 chr16:30197167-30197180
25	BCLAF1	chr16:30194548-30199158	GM12878	blood:	n/a	chr16:30195642-30195655 chr16:30197167-30197180 chr16:30194870-30194879 chr16:30194825-30194838
26	BHLHE40	chr16:30219470-30219887	HepG2	liver:	n/a	n/a
27	BHLHE40	chr16:30195302-30196027	GM12878	blood:	n/a	n/a
28	BHLHE40	chr16:30194857-30194946	K562	blood:	n/a	n/a
29	BHLHE40	chr16:30218877-30219112	HepG2	liver:	n/a	n/a
30	BHLHE40	chr16:30198454-30198956	K562	blood:	n/a	n/a
31	BHLHE40	chr16:30221810-30222099	HepG2	liver:	n/a	n/a
32	BHLHE40	chr16:30193847-30194404	GM12878	blood:	n/a	n/a
33	BHLHE40	chr16:30196426-30197505	GM12878	blood:	n/a	chr16:30197435-30197451
34	BHLHE40	chr16:30197995-30198979	GM12878	blood:	n/a	n/a
35	BHLHE40	chr16:30204184-30204453	HepG2	liver:	n/a	n/a
36	BHLHE40	chr16:30198633-30198880	HepG2	liver:	n/a	n/a
37	BHLHE40	chr16:30204722-30205224	HepG2	liver:	n/a	n/a
38	BHLHE40	chr16:30205607-30205898	HepG2	liver:	n/a	n/a
39	BHLHE40	chr16:30210902-30211673	HepG2	liver:	n/a	n/a
40	BHLHE40	chr16:30194613-30195046	GM12878	blood:	n/a	n/a
41	BRCA1	chr16:30195351-30195364	GM12878	blood:	n/a	n/a
42	BRCA1	chr16:30198502-30198547	HepG2	liver:	n/a	n/a
43	CBX3	chr16:30198506-30198929	K562	blood:	n/a	n/a
44	CBX3	chr16:30204785-30205411	K562	blood:	n/a	n/a
45	CBX3	chr16:30198527-30198990	K562	blood:	n/a	n/a
46	CBX3	chr16:30204132-30205858	K562	blood:	n/a	n/a
47	CBX3	chr16:30221745-30222217	K562	blood:	n/a	n/a
48	CBX3	chr16:30210416-30211329	K562	blood:	n/a	n/a
49	CCNT2	chr16:30194744-30195127	K562	blood:	n/a	chr16:30194810-30194819
50	CCNT2	chr16:30198456-30198847	K562	blood:	n/a	n/a

(count:1347 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:30198509-30198559	MCF10A-Er-Src	breast:	n/a
2	chr16:30195318-30195368	AG04449	skin:	fetal
3	chr16:30194416-30194466	HNPCEpiC	eye:	n/a
4	chr16:30217452-30217502	Caco-2	colon:	n/a
5	chr16:30194416-30194466	SK-N-SH_RA	brain:	n/a
6	chr16:30198509-30198559	MCF10A-Er-Src	breast:	n/a
7	chr16:30195318-30195368	AG04449	skin:	fetal
8	chr16:30194416-30194466	HNPCEpiC	eye:	n/a
9	chr16:30217452-30217502	Caco-2	colon:	n/a
10	chr16:30194416-30194466	SK-N-SH_RA	brain:	n/a
11	chr16:30206076-30206126	GM12878	blood:	n/a
12	chr16:30194416-30194466	Hela-S3	cervix:	n/a
13	chr16:30194416-30194466	PrEC	prostate:	n/a
14	chr16:30195318-30195368	ProgFib	skin:	n/a
15	chr16:30196023-30196073	BJ	skin:	n/a
16	chr16:30198370-30198420	NT2-D1	testis:	n/a
17	chr16:30192587-30192637	ProgFib	skin:	n/a
18	chr16:30198505-30198555	GM12878	blood:	n/a
19	chr16:30198505-30198555	GM12891	blood:	n/a
20	chr16:30206076-30206126	NH-A	brain:	n/a
21	chr16:30197211-30197261	SK-N-SH	brain:	n/a
22	chr16:30194903-30194953	AG04449	skin:	fetal
23	chr16:30198370-30198420	U87	brain:	n/a
24	chr16:30198370-30198420	MCF-7	breast:	n/a
25	chr16:30194776-30194826	NB4	blood:	n/a
26	chr16:30206046-30206096	BJ	skin:	n/a
27	chr16:30195318-30195368	ECC-1	luminal epithelium:	n/a
28	chr16:30195318-30195368	LNCaP	prostate:	n/a
29	chr16:30198505-30198555	AoSMC	blood vessel:	n/a
30	chr16:30192587-30192637	HCPEpiC	choroid plexus:	n/a
31	chr16:30194776-30194826	HCF	heart:	n/a
32	chr16:30194416-30194466	AG09319	gingival:	n/a
33	chr16:30194717-30194767	HRE	kidney:	n/a
34	chr16:30194888-30194938	AG04449	skin:	fetal
35	chr16:30209202-30209252	HRCEpiC	kidney:	n/a
36	chr16:30192587-30192637	ECC-1	luminal epithelium:	n/a
37	chr16:30217452-30217502	AoSMC	blood vessel:	n/a
38	chr16:30206046-30206096	MCF-7	breast:	n/a
39	chr16:30196023-30196073	SK-N-MC	brain:	n/a
40	chr16:30196023-30196073	MCF10A-Er-Src	breast:	n/a
41	chr16:30194484-30194534	HEK293	kidney:	embryo
42	chr16:30194416-30194466	HUVEC	blood vessel:	n/a
43	chr16:30194886-30194936	IMR90	lung:	fetal
44	chr16:30194903-30194953	RPTEC	kidney:	n/a
45	chr16:30198517-30198567	T-47D	breast:	n/a
46	chr16:30197211-30197261	HUVEC	blood vessel:	n/a
47	chr16:30198509-30198559	GM12892	blood:	n/a
48	chr16:30194886-30194936	AG10803	skin:	n/a
49	chr16:30195067-30195117	BJ	skin:	n/a
50	chr16:30206073-30206123	HRE	kidney:	n/a

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30198315..30198870-chr16:30420884..30421401,2	MCF-7	breast:
2	chr16:30132759..30134974-chr16:30196981..30199413,2	MCF-7	breast:
3	chr16:30122202..30125558-chr16:30192872..30196155,3	MCF-7	breast:
4	chr16:30122556..30125865-chr16:30196040..30198997,3	K562	blood:
5	chr11:60691741..60692731-chr16:30194046..30194929,2	HCT-116	colon:
6	chr16:30196751..30201052-chr16:30379113..30382636,3	MCF-7	breast:
7	chr16:30194484..30196796-chr16:30455955..30457567,2	K562	blood:
8	chr16:30134390..30135940-chr16:30193438..30196422,2	MCF-7	breast:
9	chr16:30197379..30199709-chr16:30708853..30710594,2	MCF-7	breast:
10	chr16:30123508..30126853-chr16:30193449..30196569,3	MCF-7	breast:
11	chr16:30197384..30200120-chr16:30417665..30420072,2	K562	blood:
12	chr16:30077452..30079715-chr16:30197226..30200095,2	MCF-7	breast:
13	chr16:30079070..30081233-chr16:30194915..30196655,2	MCF-7	breast:
14	chr16:30102992..30108322-chr16:30194679..30199860,7	K562	blood:
15	chr16:30193615..30195273-chr16:30388746..30390987,2	K562	blood:
16	chr16:30075111..30080393-chr16:30194482..30199026,7	MCF-7	breast:
17	chr16:30121828..30124583-chr16:30196625..30198544,2	MCF-7	breast:
18	chr16:30076811..30079031-chr16:30197360..30200413,3	K562	blood:
19	chr1:12399202..12400121-chr16:30198326..30198844,2	K562	blood:
20	chr16:30127849..30129805-chr16:30193188..30195789,2	MCF-7	breast:
21	chr16:30086324..30089424-chr16:30196059..30198552,4	MCF-7	breast:
22	chr16:30099194..30104975-chr16:30193189..30199409,9	MCF-7	breast:
23	chr16:30132897..30136323-chr16:30193309..30196336,5	MCF-7	breast:
24	chr16:30102992..30106412-chr16:30196223..30199425,3	K562	blood:
25	chr16:30197720..30200168-chr16:30772376..30774510,2	MCF-7	breast:
26	chr16:29815002..29817643-chr16:30193444..30196373,3	MCF-7	breast:
27	chr16:30194759..30196474-chr16:30708321..30710929,2	K562	blood:
28	chr16:30194030..30196796-chr16:30455949..30457567,2	K562	blood:
29	chr16:30102283..30103884-chr16:30194608..30196819,2	MCF-7	breast:
30	chr16:30124210..30124751-chr16:30198102..30199056,2	MCF-7	breast:
31	chr16:30105196..30108316-chr16:30196676..30200078,3	MCF-7	breast:
32	chr16:30073832..30076686-chr16:30197424..30199809,3	MCF-7	breast:
33	chr16:30087286..30089339-chr16:30194884..30196555,2	MCF-7	breast:
34	chr16:30075696..30078954-chr16:30197360..30200413,3	K562	blood:
35	chr16:30122445..30125435-chr16:30197147..30198801,2	K562	blood:

(count:18 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SULT1A3.1-1	chr16:30214329-30214825	NONHSAT141723
2	lnc-SULT1A3.1-2	chr16:30225841-30226020	NONHSAT141727
3	lnc-BOLA2B-2	chr16:30216282-30216411	NONHSAT141724
4	lnc-BOLA2B-2	chr16:30217246-30217485	NONHSAT141724
5	lnc-BOLA2B-2	chr16:30216148-30216211	NONHSAT141724
6	lnc-BOLA2B-1	chr16:30196153-30196278	ENSG00000261416.1
7	lnc-SULT1A3.1-1	chr16:30208758-30208851	NONHSAT141720
8	lnc-SULT1A3.1-1	chr16:30208591-30208724	NONHSAT141721
9	lnc-BOLA2B-2	chr16:30217575-30218248	NONHSAT141724
10	lnc-SLX1A-1	chr16:30200005-30200575	NONHSAT141716
11	lnc-BOLA2B-2	chr16:30218197-30218221	NONHSAT141726
12	lnc-BOLA2B-2	chr16:30219849-30220392	NONHSAT141726
13	lnc-BOLA2B-1	chr16:30195383-30195740	ENSG00000261416.1
14	lnc-BOLA2B-2	chr16:30215638-30216007	NONHSAT141724
15	lnc-SULT1A3.1-1	chr16:30207979-30208422	NONHSAT141721
16	lnc-SULT1A3.1-2	chr16:30225730-30225759	NONHSAT141727
17	lnc-SULT1A3.1-1	chr16:30207633-30208678	NONHSAT141720
18	lnc-BOLA2B-1	chr16:30195825-30195860	ENSG00000261416.1

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	CORO1A	hsa-miR-24-3p	chr16:30198442-30198465

Variant related genes	Relation type
BOLA2B	TF binding region
SULT1A3	TF binding region
SLX1A	TF binding region
CORO1A	TF binding region
SLX1A-SULT1A3	TF binding region
ENSG00000258130	TF binding region
ENSG00000261203	TF binding region
ENSG00000261416	TF binding region
ENSG00000261444	TF binding region
BOLA2B	CpG island
SULT1A3	CpG island
SLX1A	CpG island
CORO1A	CpG island
SLX1A-SULT1A3	CpG island
ENSG00000258130	CpG island
ENSG00000261203	CpG island
ENSG00000261416	CpG island
ENSG00000261444	CpG island
ENSG00000250616	chromatin interactions
ENSG00000090238	chromatin interactions
ENSG00000103495	chromatin interactions
ENSG00000196118	chromatin interactions
ENSG00000006118	chromatin interactions
ENSG00000149925	chromatin interactions
ENSG00000149922	chromatin interactions
ENSG00000179965	chromatin interactions
ENSG00000180035	chromatin interactions
ENSG00000102886	chromatin interactions
ENSG00000169221	chromatin interactions
ENSG00000102882	chromatin interactions
ENSG00000103549	chromatin interactions
ENSG00000080603	chromatin interactions
ENSG00000180209	chromatin interactions
ENSG00000261840	chromatin interactions
ENSG00000149923	chromatin interactions
ENSG00000179918	chromatin interactions

Extended variants
information (count: 465 )
Associated
traits (count: 128 )

Variant overlapped rSNPs/rCNVs (count:465 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545599689	chr16:30190550-30190551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs74249944	chr16:30190551-30190552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531312062	chr16:30190561-30190562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566941455	chr16:30190573-30190574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371608304	chr16:30190587-30190588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs377767195	chr16:30190596-30190597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537521442	chr16:30190683-30190684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567761594	chr16:30190748-30190749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529128121	chr16:30190764-30190765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568190100	chr16:30190813-30190814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547344819	chr16:30190814-30190815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370095009	chr16:30190844-30190845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184791824	chr16:30190845-30190846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539216125	chr16:30190851-30190852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561119110	chr16:30190872-30190873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369100701	chr16:30190879-30190880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79623117	chr16:30190891-30190892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571797427	chr16:30190965-30190966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531331908	chr16:30191017-30191018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs59156334	chr16:30191066-30191067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140098259	chr16:30191080-30191081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555781534	chr16:30191099-30191100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs71373230	chr16:30191102-30191103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574111575	chr16:30191104-30191105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541460960	chr16:30191210-30191211	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs143689385	chr16:30191245-30191246	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs145722810	chr16:30191324-30191325	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs545227274	chr16:30191333-30191334	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs563956919	chr16:30191336-30191337	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs531298400	chr16:30191377-30191378	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs549485284	chr16:30191402-30191403	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs189064122	chr16:30191425-30191426	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs192283199	chr16:30191475-30191476	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs184675843	chr16:30191499-30191500	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs565787643	chr16:30191526-30191527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533304605	chr16:30191527-30191528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1036597	chr16:30191537-30191538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148924270	chr16:30191592-30191593	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs372737235	chr16:30191595-30191596	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs554444338	chr16:30191630-30191631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs374394465	chr16:30191687-30191688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs71143781	chr16:30191721-30191722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569899297	chr16:30191736-30191737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs79634587	chr16:30191773-30191774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs76958119	chr16:30191775-30191776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567776312	chr16:30191778-30191779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369482645	chr16:30191850-30191851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553335465	chr16:30191856-30191857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112585008	chr16:30191873-30191874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs368289889	chr16:30191881-30191882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:128)

Disease	PMID	Source
Hodgkin''s lymphoma	20651079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	22566537	CNVD
Intellectual disability	22566537	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Lung cancer	18438408	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Mental retardation	19951919	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	22499536	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22513405	CNVD
Autism	22958593	CNVD
Autism	18184952	CNVD
Autism	19966786	CNVD
Autism	21394203	CNVD
Autism	21969575	CNVD
Autism	22241247	CNVD
Autism	20970697	CNVD
Autism	20942916	CNVD
Epilepsy	20970697	CNVD
Intellectual disability	22045946	CNVD
Mental retardation	19966786	CNVD
Developmental delay	20808231	CNVD
Obesity	20808231	CNVD
Autism	18923514	CNVD
Obesity	21881559	CNVD
Obesity	21956041	CNVD
Autism	20659124	CNVD
Mental retardation	21062444	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	22885689	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	20970697	CNVD
Schizophrenia	20433910	CNVD
Schizophrenia	22241247	CNVD
Autism	19242545	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Intracranial ependymoma	16609018	CNVD
Schizophrenia	21399695	CNVD
Autism	21956041	CNVD
Disorders of sex development	21048976	CNVD
Autism	22067053	CNVD
Autism	18156158	CNVD
Mental retardation	20152051	CNVD
Autism	19218893	CNVD
Autism	21289514	CNVD
Schizophrenia	19855392	CNVD
neurodevelopmental Syndrome	20503337	CNVD
Benign familial neonatal-infantile seizures	21060786	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Cancer	21183584	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	21045282	CNVD
Neuroblastoma	20406844	CNVD
Autism	19050728	CNVD
Epilepsy	20923578	CNVD
Psychiatric disorder	19050728	CNVD
Schizophrenia	19348701	CNVD
Attention deficit hyperactivity disorder	19097825	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	19571808	CNVD
Breast cancer	20409316	CNVD
Severe combined immunodeficiency	19097825	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Autism	18522746	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic myeloid leukemia	21384125	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Epilepsy	20502679	CNVD
Prostate cancer	18632612	CNVD
Schizophrenia	21346763	CNVD
autism	21731881	CNVD
Developmental delay	22909776	CNVD
speech impairment	22909776	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1057 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30182600-30194200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:30185200-30194000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr16:30188400-30194000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr16:30188800-30194000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr16:30189000-30193400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr16:30189000-30193600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr16:30189200-30193200	Weak transcription	Primary B cells from cord blood	blood
8	chr16:30189200-30193400	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr16:30189600-30190800	Enhancers	Fetal Intestine Small	intestine
10	chr16:30189600-30192800	Enhancers	HepG2	liver
11	chr16:30189800-30190800	Enhancers	Duodenum Mucosa	Duodenum
12	chr16:30189800-30190800	Enhancers	Fetal Intestine Large	intestine
13	chr16:30190200-30192200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr16:30190200-30192600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr16:30190200-30194000	Weak transcription	Gastric	stomach
16	chr16:30190200-30194000	Weak transcription	Pancreas	Pancrea
17	chr16:30190200-30194000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr16:30190200-30194000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr16:30190200-30194200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr16:30190400-30193800	Weak transcription	A549	lung
21	chr16:30190800-30193800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr16:30190800-30193800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr16:30190800-30194000	Weak transcription	Fetal Intestine Large	intestine
24	chr16:30191800-30192000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr16:30192200-30192400	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr16:30192200-30192400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr16:30192200-30192400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr16:30192200-30192800	Enhancers	Primary T cells fromperipheralblood	blood
29	chr16:30192400-30194000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr16:30192600-30193600	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr16:30192600-30193800	Weak transcription	Colonic Mucosa	Colon
32	chr16:30192600-30194000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr16:30192800-30193200	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr16:30192800-30193800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr16:30193200-30193400	Enhancers	GM12878-XiMat	blood
36	chr16:30193200-30193800	Enhancers	Primary B cells from cord blood	blood
37	chr16:30193200-30194000	Enhancers	Primary T cells fromperipheralblood	blood
38	chr16:30193400-30193600	Flanking Active TSS	GM12878-XiMat	blood
39	chr16:30193400-30193800	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr16:30193400-30193800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr16:30193400-30193800	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr16:30193400-30193800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr16:30193400-30193800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr16:30193400-30193800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr16:30193400-30194000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr16:30193400-30194000	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr16:30193400-30194000	Enhancers	Primary B cells from peripheral blood	blood
48	chr16:30193400-30194000	Enhancers	Primary T cells from cord blood	blood
49	chr16:30193400-30194000	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr16:30193400-30194000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links