Variant report

Variant	nsv544001
Chromosome Location	chr19:38400149-38448723
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1173)
CpG islands
(count:122)
Chromatin interactive
region (count:57)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1173 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:38424628-38425153	HepG2	liver:	n/a	chr19:38424701-38424717 chr19:38424702-38424718
2	ARID3A	chr19:38423092-38423369	HepG2	liver:	n/a	n/a
3	ARID3A	chr19:38431927-38432773	HepG2	liver:	n/a	n/a
4	ARID3A	chr19:38422594-38422852	HepG2	liver:	n/a	n/a
5	ARID3A	chr19:38411242-38411449	HepG2	liver:	n/a	n/a
6	ATF1	chr19:38434105-38434520	K562	blood:	n/a	n/a
7	ATF2	chr19:38419001-38419676	GM12878	blood:	n/a	n/a
8	ATF2	chr19:38419123-38419606	GM12878	blood:	n/a	n/a
9	ATF2	chr19:38413689-38414154	GM12878	blood:	n/a	n/a
10	ATF2	chr19:38405402-38406013	GM12878	blood:	n/a	n/a
11	ATF2	chr19:38422833-38423309	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr19:38405406-38405940	GM12878	blood:	n/a	n/a
13	ATF3	chr19:38431961-38433130	A549	lung:	n/a	n/a
14	ATF3	chr19:38422396-38424733	A549	lung:	n/a	n/a
15	ATF3	chr19:38431785-38433580	A549	lung:	n/a	n/a
16	ATF3	chr19:38422421-38423693	A549	lung:	n/a	n/a
17	ATF3	chr19:38419121-38419405	GM12878	blood:	n/a	n/a
18	BACH1	chr19:38422866-38423181	H1-hESC	embryonic stem cell:	n/a	n/a
19	BATF	chr19:38405526-38405956	GM12878	blood:	n/a	n/a
20	BATF	chr19:38404753-38405119	GM12878	blood:	n/a	n/a
21	BATF	chr19:38405529-38405863	GM12878	blood:	n/a	n/a
22	BATF	chr19:38423529-38423867	GM12878	blood:	n/a	chr19:38423719-38423730 chr19:38423720-38423730
23	BCL11A	chr19:38405516-38405962	GM12878	blood:	n/a	n/a
24	BCL11A	chr19:38405578-38405902	GM12878	blood:	n/a	n/a
25	BCL11A	chr19:38422931-38423240	GM12878	blood:	n/a	n/a
26	BCL3	chr19:38431388-38433558	A549	lung:	n/a	n/a
27	BCL3	chr19:38431455-38434419	A549	lung:	n/a	n/a
28	BCL3	chr19:38422294-38424912	A549	lung:	n/a	chr19:38423719-38423728
29	BCL3	chr19:38422236-38424526	A549	lung:	n/a	chr19:38423719-38423728
30	BCLAF1	chr19:38413662-38414128	GM12878	blood:	n/a	n/a
31	BCLAF1	chr19:38405353-38406098	GM12878	blood:	n/a	n/a
32	BCLAF1	chr19:38422454-38423239	GM12878	blood:	n/a	n/a
33	BCLAF1	chr19:38419061-38419544	GM12878	blood:	n/a	n/a
34	BCLAF1	chr19:38405448-38405943	GM12878	blood:	n/a	n/a
35	BCLAF1	chr19:38410960-38411921	GM12878	blood:	n/a	chr19:38411298-38411307
36	BCLAF1	chr19:38419037-38419725	GM12878	blood:	n/a	n/a
37	BHLHE40	chr19:38411604-38411882	GM12878	blood:	n/a	n/a
38	BHLHE40	chr19:38419330-38419386	A549	lung:	n/a	n/a
39	BHLHE40	chr19:38424050-38425081	HepG2	liver:	n/a	n/a
40	BHLHE40	chr19:38445178-38445551	GM12878	blood:	n/a	n/a
41	BHLHE40	chr19:38422561-38423382	HepG2	liver:	n/a	n/a
42	BHLHE40	chr19:38434091-38434507	K562	blood:	n/a	n/a
43	BHLHE40	chr19:38405488-38406021	GM12878	blood:	n/a	n/a
44	BHLHE40	chr19:38400252-38400772	GM12878	blood:	n/a	n/a
45	BHLHE40	chr19:38422565-38423569	A549	lung:	n/a	n/a
46	BHLHE40	chr19:38422583-38423395	GM12878	blood:	n/a	n/a
47	BHLHE40	chr19:38419123-38419680	GM12878	blood:	n/a	n/a
48	CBX3	chr19:38434137-38434536	K562	blood:	n/a	n/a
49	CCNT2	chr19:38434139-38434441	K562	blood:	n/a	n/a
50	CEBPB	chr19:38439371-38439436	HepG2	liver:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:38401721-38401771	AG04449	skin:	fetal
2	chr19:38401721-38401771	HCF	heart:	n/a
3	chr19:38423760-38423810	HEK293	kidney:	embryo
4	chr19:38401721-38401771	HCM	heart:	n/a
5	chr19:38423760-38423810	AG09319	gingival:	n/a
6	chr19:38401721-38401771	HUVEC	blood vessel:	n/a
7	chr19:38423760-38423810	CMK	blood:	n/a
8	chr19:38401721-38401771	Jurkat	blood:	n/a
9	chr19:38423760-38423810	HCT-116	colon:	n/a
10	chr19:38423760-38423810	PANC-1	pancreas:	n/a
11	chr19:38401721-38401771	HPAEpiC	pulmonary alveolar:	n/a
12	chr19:38423760-38423810	AG04450	lung:	fetal
13	chr19:38423760-38423810	Hepatocyte	liver:	n/a
14	chr19:38401721-38401771	GM19239	blood:	n/a
15	chr19:38423760-38423810	AG10803	skin:	n/a
16	chr19:38423760-38423810	ProgFib	skin:	n/a
17	chr19:38423760-38423810	PrEC	prostate:	n/a
18	chr19:38423760-38423810	NT2-D1	testis:	n/a
19	chr19:38423760-38423810	HRPEpiC	eye:	n/a
20	chr19:38401721-38401771	NT2-D1	testis:	n/a
21	chr19:38423760-38423810	HEEpiC	esophagus:	n/a
22	chr19:38401721-38401771	Hepatocyte	liver:	n/a
23	chr19:38423760-38423810	GM12891	blood:	n/a
24	chr19:38423760-38423810	NB4	blood:	n/a
25	chr19:38423760-38423810	PFSK-1	brain:	n/a
26	chr19:38423760-38423810	HepG2	liver:	n/a
27	chr19:38401721-38401771	PrEC	prostate:	n/a
28	chr19:38423760-38423810	IMR90	lung:	fetal
29	chr19:38423760-38423810	GM12892	blood:	n/a
30	chr19:38423760-38423810	Caco-2	colon:	n/a
31	chr19:38423760-38423810	BJ	skin:	n/a
32	chr19:38401721-38401771	K562	blood:	n/a
33	chr19:38401721-38401771	GM12892	blood:	n/a
34	chr19:38401721-38401771	ovcar-3	ovarian:	n/a
35	chr19:38423760-38423810	SAEC	small airway:	n/a
36	chr19:38423760-38423810	MCF10A-Er-Src	breast:	n/a
37	chr19:38401721-38401771	NB4	blood:	n/a
38	chr19:38423760-38423810	K562	blood:	n/a
39	chr19:38423760-38423810	HRCEpiC	kidney:	n/a
40	chr19:38401721-38401771	GM12891	blood:	n/a
41	chr19:38401721-38401771	AG09319	gingival:	n/a
42	chr19:38423760-38423810	SK-N-SH_RA	brain:	n/a
43	chr19:38423760-38423810	U87	brain:	n/a
44	chr19:38401721-38401771	AoSMC	blood vessel:	n/a
45	chr19:38423760-38423810	HCPEpiC	choroid plexus:	n/a
46	chr19:38401721-38401771	SAEC	small airway:	n/a
47	chr19:38401721-38401771	SK-N-MC	brain:	n/a
48	chr19:38423760-38423810	NHBE	bronchial:	n/a
49	chr19:38401721-38401771	NHBE	bronchial:	n/a
50	chr19:38401721-38401771	HRCEpiC	kidney:	n/a

(count:57 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr19:38393450..38400778-chr19:38419865..38427350,17	MCF-7	breast:
2	chr19:38438618..38442193-chr19:38444314..38446890,3	MCF-7	breast:
3	chr19:38395717..38398405-chr19:38438245..38443084,4	MCF-7	breast:
4	chr19:38424879..38427033-chr19:38465266..38467452,2	MCF-7	breast:
5	chr19:38423561..38425591-chr19:38488215..38490133,2	MCF-7	breast:
6	chr19:38431695..38432380-chr19:38480945..38481511,2	MCF-7	breast:
7	chr19:38434369..38435997-chr19:38437453..38439918,2	MCF-7	breast:
8	chr19:38423922..38426366-chr19:38436893..38438716,2	MCF-7	breast:
9	chr19:38405526..38407086-chr19:38423053..38425586,2	MCF-7	breast:
10	chr19:38395644..38401186-chr19:38430482..38434552,8	MCF-7	breast:
11	chr19:38395556..38401665-chr19:38419693..38425913,12	MCF-7	breast:
12	chr19:38443941..38445562-chr19:38447183..38449175,2	MCF-7	breast:
13	chr19:38396915..38397588-chr19:38431692..38432270,2	MCF-7	breast:
14	chr19:38415914..38418453-chr19:38418940..38421267,2	MCF-7	breast:
15	chr19:38424099..38425742-chr19:38427157..38428812,2	K562	blood:
16	chr19:38429620..38432049-chr19:38435086..38437572,3	K562	blood:
17	chr19:38403265..38407111-chr19:38419790..38421668,3	MCF-7	breast:
18	chr19:38440998..38442982-chr19:38537686..38540589,2	MCF-7	breast:
19	chr19:38404240..38406383-chr19:38422399..38424441,2	MCF-7	breast:
20	chr19:38399136..38401318-chr19:38404847..38407238,2	MCF-7	breast:
21	chr19:38440256..38441798-chr19:38479359..38480943,2	K562	blood:
22	chr19:38421583..38424887-chr19:38429672..38432254,4	MCF-7	breast:
23	chr19:38407792..38410171-chr19:38481203..38483917,2	MCF-7	breast:
24	chr19:38438618..38442193-chr19:38444314..38446890,3	MCF-7	breast:
25	chr19:38427297..38430730-chr19:38431010..38433796,3	K562	blood:
26	chr19:38432664..38434680-chr19:38442017..38444946,2	MCF-7	breast:
27	chr19:38431713..38434433-chr19:38480033..38484198,4	MCF-7	breast:
28	chr19:38432664..38434680-chr19:38442017..38444946,2	MCF-7	breast:
29	chr19:38423743..38426556-chr19:38482738..38484356,2	MCF-7	breast:
30	chr19:38424099..38425742-chr19:38427157..38428812,2	K562	blood:
31	chr19:38396701..38399337-chr19:38419695..38422490,2	K562	blood:
32	chr19:38395808..38398765-chr19:38427485..38430448,3	MCF-7	breast:
33	chr19:38443941..38445562-chr19:38447183..38449175,2	MCF-7	breast:
34	chr19:38426351..38429541-chr19:38429679..38432396,3	MCF-7	breast:
35	chr19:38431973..38434194-chr19:38454275..38456590,2	MCF-7	breast:
36	chr19:38417337..38419728-chr19:38472151..38473762,2	MCF-7	breast:
37	chr19:38402813..38405228-chr19:38408699..38411381,2	MCF-7	breast:
38	chr19:38399136..38401318-chr19:38404847..38407238,2	MCF-7	breast:
39	chr19:38434369..38435997-chr19:38437453..38439918,2	MCF-7	breast:
40	chr19:38441551..38443321-chr19:38443505..38445243,2	K562	blood:
41	chr19:38429570..38433364-chr19:38470420..38473384,4	MCF-7	breast:
42	chr19:38396824..38398829-chr19:38427494..38430432,2	MCF-7	breast:
43	chr19:38423922..38426366-chr19:38436893..38438716,2	MCF-7	breast:
44	chr19:38395556..38401665-chr19:38419693..38425913,12	MCF-7	breast:
45	chr19:38427297..38430730-chr19:38431010..38433796,3	K562	blood:
46	chr19:38441551..38443321-chr19:38443505..38445243,2	K562	blood:
47	chr19:38429620..38432049-chr19:38435086..38437572,3	K562	blood:
48	chr19:38402813..38405228-chr19:38408699..38411381,2	MCF-7	breast:
49	chr19:38426351..38429541-chr19:38429679..38432396,3	MCF-7	breast:
50	chr19:38405526..38407086-chr19:38423053..38425586,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPINT2-10	chr19:38422986-38423332	NONHSAT066182

No data

Variant related genes	Relation type
SIPA1L3	TF binding region
WDR87	TF binding region
SIPA1L3	CpG island
WDR87	CpG island
ENSG00000171804	chromatin interactions
ENSG00000105738	chromatin interactions
ENSG00000268051	chromatin interactions

Extended variants
information (count: 1831 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1831 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113759810	chr19:38400159-38400160	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs547271825	chr19:38400184-38400185	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs200758278	chr19:38400187-38400188	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs568356670	chr19:38400188-38400189	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs535892343	chr19:38400200-38400201	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs551154631	chr19:38400203-38400204	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs3786869	chr19:38400324-38400325	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs575844267	chr19:38400337-38400338	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs1054023	chr19:38400342-38400343	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs188310090	chr19:38400360-38400361	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs181826910	chr19:38400383-38400384	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs577115645	chr19:38400431-38400432	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs28580198	chr19:38400432-38400433	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs187568248	chr19:38400469-38400470	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs559639214	chr19:38400472-38400473	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs148732036	chr19:38400534-38400535	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs541837153	chr19:38400545-38400546	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs549703064	chr19:38400564-38400565	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs138896144	chr19:38400614-38400615	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs569302139	chr19:38400615-38400616	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs34356507	chr19:38400630-38400631	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs563027065	chr19:38400638-38400639	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs530487200	chr19:38400690-38400691	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs142172510	chr19:38400717-38400718	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs111948801	chr19:38400742-38400743	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs541036028	chr19:38400757-38400758	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs79758991	chr19:38400760-38400761	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs528691309	chr19:38400768-38400769	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs376742359	chr19:38400781-38400782	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs36037418	chr19:38400937-38400938	Enhancers Weak transcription Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs191447802	chr19:38401017-38401018	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs533489725	chr19:38401071-38401072	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs535467255	chr19:38401078-38401079	Enhancers Weak transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs374423307	chr19:38401093-38401094	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs569296930	chr19:38401151-38401152	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs530642661	chr19:38401170-38401171	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs571813302	chr19:38401171-38401172	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs539895527	chr19:38401201-38401202	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs551635290	chr19:38401240-38401241	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs576954268	chr19:38401294-38401295	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs534863888	chr19:38401304-38401305	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs534665978	chr19:38401354-38401355	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs574708976	chr19:38401372-38401373	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs182012494	chr19:38401377-38401378	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs368763008	chr19:38401400-38401401	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs8104677	chr19:38401418-38401419	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs562914850	chr19:38401431-38401432	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs574894710	chr19:38401455-38401456	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs186164789	chr19:38401468-38401469	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs563888814	chr19:38401484-38401485	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Lung cancer	21569311	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Attention deficit hyperactivity disorder	22138692	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:1844 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38396400-38400600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr19:38397000-38401000	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr19:38398600-38422600	Weak transcription	Aorta	Aorta
4	chr19:38398800-38400400	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr19:38398800-38400400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
6	chr19:38398800-38400400	Enhancers	Fetal Muscle Trunk	muscle
7	chr19:38398800-38400400	Enhancers	Fetal Thymus	thymus
8	chr19:38398800-38400400	Enhancers	Pancreas	Pancrea
9	chr19:38398800-38400600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr19:38398800-38405200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr19:38398800-38433800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr19:38399000-38400200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr19:38399000-38400200	Enhancers	Fetal Brain Male	brain
14	chr19:38399000-38400400	Enhancers	H9 Cell Line	embryonic stem cell
15	chr19:38399000-38400400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr19:38399000-38400600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr19:38399000-38400800	Enhancers	HepG2	liver
18	chr19:38399000-38401200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr19:38399000-38418400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr19:38399000-38422400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr19:38399200-38400200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr19:38399200-38400200	Weak transcription	Psoas Muscle	Psoas
23	chr19:38399200-38400200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr19:38399200-38400400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr19:38399200-38400400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr19:38399200-38400400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr19:38399200-38400600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr19:38399200-38400600	Enhancers	HSMMtube	muscle
29	chr19:38399200-38400600	Enhancers	HUVEC	blood vessel
30	chr19:38399200-38400800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr19:38399200-38401000	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr19:38399200-38401200	Enhancers	H1 Cell Line	embryonic stem cell
33	chr19:38399200-38401200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr19:38399200-38401400	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr19:38399200-38401400	Weak transcription	HMEC	breast
36	chr19:38399200-38401800	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr19:38399200-38402800	Weak transcription	Fetal Intestine Small	intestine
38	chr19:38399200-38404800	Weak transcription	Primary T cells from cord blood	blood
39	chr19:38399200-38405000	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr19:38399200-38405400	Weak transcription	Adipose Nuclei	Adipose
41	chr19:38399200-38405400	Weak transcription	Fetal Muscle Leg	muscle
42	chr19:38399200-38405400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr19:38399200-38409400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr19:38399200-38411000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr19:38399200-38411000	Weak transcription	Stomach Mucosa	stomach
46	chr19:38399200-38411400	Weak transcription	NHEK	skin
47	chr19:38399200-38411800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr19:38399200-38411800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr19:38399200-38415600	Weak transcription	Hela-S3	cervix
50	chr19:38399200-38416000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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