Variant report

Variant	nsv911265
Chromosome Location	chr19:18351674-18371197
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:18362647-18362831	K562	blood:	n/a	n/a
2	ATF2	chr19:18362549-18362972	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr19:18362559-18362975	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr19:18366297-18366333	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr19:18362633-18362949	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCLAF1	chr19:18362504-18362910	GM12878	blood:	n/a	n/a
7	BHLHE40	chr19:18362680-18362884	K562	blood:	n/a	n/a
8	CBX3	chr19:18362501-18362919	K562	blood:	n/a	n/a
9	CBX3	chr19:18359235-18359482	K562	blood:	n/a	n/a
10	CEBPB	chr19:18364030-18364198	A549	lung:	n/a	chr19:18364143-18364154
11	CEBPB	chr19:18363980-18364310	HepG2	liver:	n/a	chr19:18364143-18364154
12	CEBPB	chr19:18363978-18364297	K562	blood:	n/a	chr19:18364143-18364154
13	CEBPB	chr19:18363993-18364302	HepG2	liver:	n/a	chr19:18364143-18364154
14	CEBPB	chr19:18363990-18364308	IMR90	lung:	n/a	chr19:18364143-18364154
15	CEBPB	chr19:18364031-18364195	Hela-S3	cervix:	n/a	chr19:18364143-18364154
16	CEBPD	chr19:18359199-18359536	K562	blood:	n/a	n/a
17	CEBPD	chr19:18359065-18359585	K562	blood:	n/a	n/a
18	CHD2	chr19:18362778-18362876	K562	blood:	n/a	n/a
19	CHD2	chr19:18365811-18366276	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr19:18362740-18362890	HEEpiC	esophagus:	n/a	chr19:18362784-18362805 chr19:18362795-18362804 chr19:18362790-18362806 chr19:18362789-18362807 chr19:18362791-18362804 chr19:18362792-18362802
21	CTCF	chr19:18362700-18362850	HAc	cerebellar:	n/a	chr19:18362784-18362805 chr19:18362795-18362804 chr19:18362790-18362806 chr19:18362789-18362807 chr19:18362791-18362804 chr19:18362792-18362802
22	CTCF	chr19:18362740-18362890	GM12872	blood:	n/a	chr19:18362784-18362805 chr19:18362795-18362804 chr19:18362790-18362806 chr19:18362789-18362807 chr19:18362791-18362804 chr19:18362792-18362802
23	CTCF	chr19:18363100-18363250	GM12873	blood:	n/a	n/a
24	CTCF	chr19:18362694-18362952	A549	lung:	n/a	chr19:18362784-18362805 chr19:18362795-18362804 chr19:18362790-18362806 chr19:18362789-18362807 chr19:18362791-18362804 chr19:18362792-18362802
25	CTCF	chr19:18366220-18366370	HBMEC	blood vessel:	n/a	n/a
26	CTCF	chr19:18362720-18362870	HPAF	blood vessel:	n/a	chr19:18362784-18362805 chr19:18362795-18362804 chr19:18362790-18362806 chr19:18362789-18362807 chr19:18362791-18362804 chr19:18362792-18362802
27	CTCF	chr19:18366160-18366310	HBMEC	blood vessel:	n/a	chr19:18366202-18366220
28	CTCF	chr19:18366080-18366230	HRE	kidney:	n/a	chr19:18366099-18366112 chr19:18366202-18366220
29	CTCF	chr19:18362760-18362910	HVMF	connective:	n/a	chr19:18362784-18362805 chr19:18362795-18362804 chr19:18362790-18362806 chr19:18362789-18362807 chr19:18362791-18362804 chr19:18362792-18362802
30	CTCF	chr19:18362740-18362890	WERI-Rb-1	eye:	n/a	chr19:18362784-18362805 chr19:18362795-18362804 chr19:18362790-18362806 chr19:18362789-18362807 chr19:18362791-18362804 chr19:18362792-18362802
31	CTCF	chr19:18362601-18362910	SK-N-SH_RA	brain:	n/a	chr19:18362784-18362805 chr19:18362795-18362804 chr19:18362790-18362806 chr19:18362789-18362807 chr19:18362791-18362804 chr19:18362792-18362802
32	CTCF	chr19:18366119-18366306	GM19240	blood:	n/a	chr19:18366202-18366220
33	CTCF	chr19:18362704-18362926	GM20000	blood:	n/a	chr19:18362784-18362805 chr19:18362795-18362804 chr19:18362790-18362806 chr19:18362789-18362807 chr19:18362791-18362804 chr19:18362792-18362802
34	CTCF	chr19:18366180-18366330	Hela-S3	cervix:	n/a	chr19:18366202-18366220
35	CTCF	chr19:18366420-18366570	NHEK	skin:	n/a	n/a
36	CTCF	chr19:18362860-18363010	A549	lung:	n/a	n/a
37	CTCF	chr19:18366120-18366270	GM12873	blood:	n/a	chr19:18366202-18366220
38	CTCF	chr19:18362740-18362890	HCM	heart:	n/a	chr19:18362784-18362805 chr19:18362795-18362804 chr19:18362790-18362806 chr19:18362789-18362807 chr19:18362791-18362804 chr19:18362792-18362802
39	CTCF	chr19:18366420-18366442	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr19:18362700-18362850	GM12869	blood:	n/a	chr19:18362784-18362805 chr19:18362795-18362804 chr19:18362790-18362806 chr19:18362789-18362807 chr19:18362791-18362804 chr19:18362792-18362802
41	CTCF	chr19:18363011-18363182	GM12892	blood:	n/a	n/a
42	CTCF	chr19:18363084-18363132	GM12878	blood:	n/a	n/a
43	CTCF	chr19:18362681-18362945	MCF-7	breast:	n/a	chr19:18362784-18362805 chr19:18362795-18362804 chr19:18362790-18362806 chr19:18362789-18362807 chr19:18362791-18362804 chr19:18362792-18362802
44	CTCF	chr19:18366180-18366330	GM12870	blood:	n/a	chr19:18366202-18366220
45	CTCF	chr19:18362740-18362890	SK-N-SH_RA	brain:	n/a	chr19:18362784-18362805 chr19:18362795-18362804 chr19:18362790-18362806 chr19:18362789-18362807 chr19:18362791-18362804 chr19:18362792-18362802
46	CTCF	chr19:18366100-18366250	GM12865	blood:	n/a	chr19:18366202-18366220
47	CTCF	chr19:18366180-18366330	GM12875	blood:	n/a	chr19:18366202-18366220
48	CTCF	chr19:18362720-18362870	AG10803	skin:	n/a	chr19:18362784-18362805 chr19:18362795-18362804 chr19:18362790-18362806 chr19:18362789-18362807 chr19:18362791-18362804 chr19:18362792-18362802
49	CTCF	chr19:18362720-18362870	GM06990	blood:	n/a	chr19:18362784-18362805 chr19:18362795-18362804 chr19:18362790-18362806 chr19:18362789-18362807 chr19:18362791-18362804 chr19:18362792-18362802
50	CTCF	chr19:18362740-18362890	AoAF	blood vessel:	n/a	chr19:18362784-18362805 chr19:18362795-18362804 chr19:18362790-18362806 chr19:18362789-18362807 chr19:18362791-18362804 chr19:18362792-18362802

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:18368368-18368418	CMK	blood:	n/a
2	chr19:18358989-18359039	PrEC	prostate:	n/a
3	chr19:18368368-18368418	CMK	blood:	n/a
4	chr19:18358989-18359039	PrEC	prostate:	n/a
5	chr19:18359562-18359612	U87	brain:	n/a
6	chr19:18359562-18359612	SAEC	small airway:	n/a
7	chr19:18359562-18359612	HPAEpiC	pulmonary alveolar:	n/a
8	chr19:18359562-18359612	HUVEC	blood vessel:	n/a
9	chr19:18358989-18359039	SAEC	small airway:	n/a
10	chr19:18368483-18368533	IMR90	lung:	fetal
11	chr19:18368873-18368923	Jurkat	blood:	n/a
12	chr19:18359562-18359612	AG10803	skin:	n/a
13	chr19:18359562-18359612	RPTEC	kidney:	n/a
14	chr19:18366283-18366333	NT2-D1	testis:	n/a
15	chr19:18369082-18369132	MCF10A-Er-Src	breast:	n/a
16	chr19:18368368-18368418	HEK293	kidney:	embryo
17	chr19:18368873-18368923	AG09309	skin:	n/a
18	chr19:18368873-18368923	HCF	heart:	n/a
19	chr19:18358989-18359039	AG04450	lung:	fetal
20	chr19:18368368-18368418	AG09319	gingival:	n/a
21	chr19:18359562-18359612	AG04450	lung:	fetal
22	chr19:18359505-18359555	Jurkat	blood:	n/a
23	chr19:18368728-18368778	NB4	blood:	n/a
24	chr19:18368368-18368418	Hela-S3	cervix:	n/a
25	chr19:18368873-18368923	HUVEC	blood vessel:	n/a
26	chr19:18366283-18366333	HRCEpiC	kidney:	n/a
27	chr19:18359505-18359555	AG10803	skin:	n/a
28	chr19:18368873-18368923	HRCEpiC	kidney:	n/a
29	chr19:18359560-18359610	SK-N-MC	brain:	n/a
30	chr19:18368728-18368778	BJ	skin:	n/a
31	chr19:18366283-18366333	HCPEpiC	choroid plexus:	n/a
32	chr19:18368728-18368778	GM12892	blood:	n/a
33	chr19:18358989-18359039	HepG2	liver:	n/a
34	chr19:18368728-18368778	SK-N-SH_RA	brain:	n/a
35	chr19:18369082-18369132	HCPEpiC	choroid plexus:	n/a
36	chr19:18368728-18368778	RPTEC	kidney:	n/a
37	chr19:18359505-18359555	HRE	kidney:	n/a
38	chr19:18359560-18359610	T-47D	breast:	n/a
39	chr19:18368483-18368533	HCPEpiC	choroid plexus:	n/a
40	chr19:18368728-18368778	SK-N-SH	brain:	n/a
41	chr19:18368483-18368533	GM12878	blood:	n/a
42	chr19:18359560-18359610	HRPEpiC	eye:	n/a
43	chr19:18359505-18359555	NB4	blood:	n/a
44	chr19:18369082-18369132	NB4	blood:	n/a
45	chr19:18359560-18359610	RPTEC	kidney:	n/a
46	chr19:18368368-18368418	GM12878	blood:	n/a
47	chr19:18358989-18359039	GM19239	blood:	n/a
48	chr19:18368728-18368778	HPAEpiC	pulmonary alveolar:	n/a
49	chr19:18366283-18366333	K562	blood:	n/a
50	chr19:18368483-18368533	AG09319	gingival:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:18219225..18221141-chr19:18367564..18369612,2	K562	blood:
2	chr19:18359047..18361096-chr19:18501038..18503469,2	K562	blood:
3	chr19:18366386..18369590-chr19:18499675..18502630,3	K562	blood:
4	chr19:18348762..18351903-chr19:18368580..18371202,3	K562	blood:
5	chr19:18364058..18367893-chr19:18389808..18392798,4	MCF-7	breast:
6	chr19:18364343..18366040-chr19:18434172..18436739,2	K562	blood:
7	chr19:18357951..18359485-chr19:18364086..18366464,2	K562	blood:
8	chr19:18356349..18358578-chr19:18375314..18377144,2	K562	blood:
9	chr19:18367098..18369243-chr19:18385751..18387528,2	MCF-7	breast:
10	chr19:18351413..18353235-chr19:18403672..18406374,2	K562	blood:
11	chr19:18342794..18343871-chr19:18362298..18363206,3	K562	blood:
12	chr19:18343862..18346190-chr19:18364493..18366233,2	MCF-7	breast:
13	chr19:18223543..18224490-chr19:18362374..18363237,3	MCF-7	breast:
14	chr19:18361226..18363795-chr19:18390470..18392704,3	MCF-7	breast:
15	chr19:18343596..18345182-chr19:18356348..18357866,2	K562	blood:
16	chr19:18313445..18314955-chr19:18361217..18362765,2	MCF-7	breast:
17	chr19:18367818..18369812-chr19:18780764..18782671,2	K562	blood:
18	chr19:18340431..18342040-chr19:18361348..18362986,2	K562	blood:
19	chr19:18352736..18354742-chr19:18357931..18359510,2	K562	blood:
20	chr19:18368439..18371351-chr19:18378949..18380455,2	MCF-7	breast:
21	chr19:18362306..18362839-chr19:18439198..18439767,2	K562	blood:
22	chr19:18361402..18364353-chr19:18432699..18434486,2	MCF-7	breast:
23	chr19:18365269..18367724-chr19:18368342..18370773,2	MCF-7	breast:
24	chr19:18341696..18344028-chr19:18349913..18353399,3	MCF-7	breast:
25	chr19:18282614..18283241-chr19:18362331..18362907,2	K562	blood:
26	chr19:18348762..18351903-chr19:18368580..18371202,3	K562	blood:
27	chr19:18302642..18303148-chr19:18362353..18362883,2	MCF-7	breast:
28	chr13:115052238..115052759-chr19:18369682..18370488,2	MCF-7	breast:
29	chr19:18357951..18359485-chr19:18364086..18366464,2	K562	blood:
30	chr19:18223254..18225164-chr19:18359202..18360935,2	MCF-7	breast:
31	chr19:18278888..18279878-chr19:18362343..18363112,2	MCF-7	breast:
32	chr19:18366000..18368081-chr19:18496132..18498337,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIAA1683-1	chr19:18366030-18366229	NONHSAT062947
2	lnc-KIAA1683-1	chr19:18360957-18361282	NONHSAT062948
3	lnc-KIAA1683-1	chr19:18360760-18360987	NONHSAT062947
4	lnc-KIAA1683-1	chr19:18362874-18362971	NONHSAT062947
5	lnc-KIAA1683-1	chr19:18361122-18361282	NONHSAT062947
6	lnc-KIAA1683-1	chr19:18362874-18363242	NONHSAT062948

Variant related genes	Relation type
PDE4C	TF binding region
PDE4C	CpG island
ENSG00000130520	chromatin interactions
ENSG00000105650	chromatin interactions
ENSG00000105647	chromatin interactions
ENSG00000099308	chromatin interactions
ENSG00000130513	chromatin interactions
ENSG00000264175	chromatin interactions
ENSG00000130522	chromatin interactions
ENSG00000105649	chromatin interactions

Extended variants
information (count: 962 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:962 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs172043	chr19:18351674-18351675	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs555506573	chr19:18351707-18351708	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs537184339	chr19:18351714-18351715	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs148556739	chr19:18351725-18351726	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs544412929	chr19:18351756-18351757	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs564161307	chr19:18351797-18351798	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs533233671	chr19:18351812-18351813	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs115943735	chr19:18351829-18351830	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs370687928	chr19:18351830-18351831	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs528469936	chr19:18351839-18351840	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs548223282	chr19:18351879-18351880	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs568205624	chr19:18351936-18351937	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs549556652	chr19:18351966-18351967	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs377688355	chr19:18351976-18351977	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs530945900	chr19:18351980-18351981	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs550738685	chr19:18351995-18351996	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs376113665	chr19:18352037-18352038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188218058	chr19:18352045-18352046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536099609	chr19:18352051-18352052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368979506	chr19:18352057-18352058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200717537	chr19:18352066-18352067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550357216	chr19:18352086-18352087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540090465	chr19:18352116-18352117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553398113	chr19:18352139-18352140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566418514	chr19:18352140-18352141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535442164	chr19:18352146-18352147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142906617	chr19:18352158-18352159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575398097	chr19:18352187-18352188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537968031	chr19:18352188-18352189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557907474	chr19:18352205-18352206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs151122934	chr19:18352210-18352211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540473333	chr19:18352213-18352214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs544967173	chr19:18352243-18352244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560183573	chr19:18352248-18352249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573638428	chr19:18352268-18352269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs375968160	chr19:18352279-18352280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs541805919	chr19:18352287-18352288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs56409741	chr19:18352291-18352292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs140158511	chr19:18352299-18352300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550809958	chr19:18352311-18352312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564659160	chr19:18352312-18352313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533367724	chr19:18352322-18352323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374994814	chr19:18352329-18352330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547221040	chr19:18352357-18352358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567165326	chr19:18352366-18352367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536191253	chr19:18352369-18352370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182002918	chr19:18352372-18352373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143601102	chr19:18352373-18352374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs117198561	chr19:18352508-18352509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557578146	chr19:18352519-18352520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Follicular lymphoma	20505157	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	20179077	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Lung cancer	17297452	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Chordoma	18071362	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21364760	CNVD
Mycobacterial infection	18421352	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute monocytic leukemia	16498392	CNVD
Lung cancer	18438408	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Liver carcinoma	19366792	CNVD
Colorectal cancer	19455253	CNVD
Lujan-Fryns syndrom	21521776	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Cancer	17440070	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:360 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18345000-18358400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:18348600-18385200	Weak transcription	Right Atrium	heart
3	chr19:18351400-18352000	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr19:18351600-18351800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr19:18351600-18351800	Enhancers	Colonic Mucosa	Colon
6	chr19:18351600-18351800	Flanking Active TSS	Lung	lung
7	chr19:18351600-18352000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr19:18351600-18352000	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr19:18351600-18352000	Bivalent Enhancer	K562	blood
10	chr19:18351600-18354000	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr19:18351800-18352000	Enhancers	Lung	lung
12	chr19:18351800-18364800	Weak transcription	Colonic Mucosa	Colon
13	chr19:18352600-18352800	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr19:18352800-18353000	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr19:18352800-18363000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr19:18353000-18362600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr19:18353200-18362600	Weak transcription	Stomach Mucosa	stomach
18	chr19:18353400-18358800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr19:18354000-18354200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr19:18354200-18358800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr19:18358400-18359200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr19:18358400-18359200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr19:18358400-18359200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr19:18358400-18359600	Enhancers	Fetal Heart	heart
25	chr19:18358600-18358800	Bivalent Enhancer	Fetal Stomach	stomach
26	chr19:18358600-18359000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr19:18358600-18359000	Active TSS	Lung	lung
28	chr19:18358600-18359200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr19:18358600-18359200	Enhancers	H1 Cell Line	embryonic stem cell
30	chr19:18358600-18359200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr19:18358600-18359200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr19:18358800-18359000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr19:18358800-18359200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr19:18358800-18359200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr19:18358800-18359200	Enhancers	Right Ventricle	heart
36	chr19:18358800-18359400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr19:18358800-18359600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr19:18358800-18359600	Enhancers	Fetal Stomach	stomach
39	chr19:18358800-18359600	Enhancers	K562	blood
40	chr19:18359000-18359200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr19:18359000-18359200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr19:18359000-18359200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr19:18359000-18359400	Enhancers	Lung	lung
44	chr19:18359200-18362600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr19:18359200-18362600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr19:18359200-18362800	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr19:18359600-18362600	Weak transcription	K562	blood
48	chr19:18360800-18361000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr19:18361200-18361400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
50	chr19:18361400-18375200	Weak transcription	Pancreatic Islets	Pancreatic Islet

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links