Variant report

Variant	esv3437908
Chromosome Location	chr19:38717937-38720485
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	ATF3	chr19:38720409-38721016	A549	lung:	n/a	n/a
2	BACH1	chr19:38718739-38718888	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCL3	chr19:38720360-38720920	A549	lung:	n/a	n/a
4	CBX3	chr19:38720339-38720680	K562	blood:	n/a	n/a
5	CCNT2	chr19:38720244-38720627	K562	blood:	n/a	chr19:38720534-38720543
6	CHD1	chr19:38719662-38719882	H1-hESC	embryonic stem cell:	n/a	chr19:38719767-38719774
7	CHD2	chr19:38720378-38720699	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD2	chr19:38720364-38720729	Hela-S3	cervix:	n/a	n/a
9	CHD2	chr19:38719171-38719193	HepG2	liver:	n/a	n/a
10	CHD2	chr19:38720404-38720762	K562	blood:	n/a	n/a
11	CHD2	chr19:38718807-38719471	H1-hESC	embryonic stem cell:	n/a	n/a
12	CREB1	chr19:38720139-38720732	A549	lung:	n/a	n/a
13	CREB1	chr19:38720221-38720604	A549	lung:	n/a	n/a
14	CREB1	chr19:38719389-38719778	A549	lung:	n/a	n/a
15	CTBP2	chr19:38719154-38720005	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTBP2	chr19:38720348-38720737	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr19:38720360-38720510	AG04449	skin:	n/a	chr19:38720402-38720415 chr19:38720482-38720492
18	CTCF	chr19:38720380-38720530	AG04449	skin:	n/a	chr19:38720402-38720415 chr19:38720482-38720492
19	CTCF	chr19:38719460-38719610	HUVEC	blood vessel:	n/a	chr19:38719523-38719541
20	CTCF	chr19:38720400-38720550	AG10803	skin:	n/a	chr19:38720402-38720415 chr19:38720482-38720492
21	CTCF	chr19:38720452-38720522	GM12891	blood:	n/a	chr19:38720482-38720492
22	CTCF	chr19:38720480-38720630	Caco-2	colon:	n/a	chr19:38720482-38720492
23	CTCF	chr19:38720340-38720490	HEK293	kidney:	n/a	chr19:38720402-38720415
24	CTCF	chr19:38719420-38719570	HRE	kidney:	n/a	chr19:38719523-38719541
25	CTCF	chr19:38720380-38720530	GM12870	blood:	n/a	chr19:38720402-38720415 chr19:38720482-38720492
26	CTCF	chr19:38719500-38719650	K562	blood:	n/a	chr19:38719523-38719541
27	CTCF	chr19:38720431-38720439	GM19240	blood:	n/a	n/a
28	CTCF	chr19:38720360-38720510	BJ	skin:	n/a	chr19:38720402-38720415 chr19:38720482-38720492
29	CTCF	chr19:38720400-38720550	GM12866	blood:	n/a	chr19:38720402-38720415 chr19:38720482-38720492
30	CTCF	chr19:38720463-38720470	GM19240	blood:	n/a	n/a
31	CTCF	chr19:38720420-38720570	HA-sp	spinal cord:	n/a	chr19:38720482-38720492
32	CTCF	chr19:38720291-38720578	K562	blood:	n/a	chr19:38720402-38720415 chr19:38720482-38720492
33	CTCF	chr19:38720456-38720470	MCF-7	breast:	n/a	n/a
34	CTCF	chr19:38720420-38720570	HUVEC	blood vessel:	n/a	chr19:38720482-38720492
35	CTCF	chr19:38720320-38720470	HCM	heart:	n/a	chr19:38720402-38720415
36	CTCF	chr19:38719520-38719670	BJ	skin:	n/a	chr19:38719523-38719541
37	CTCF	chr19:38720292-38720543	K562	blood:	n/a	chr19:38720402-38720415 chr19:38720482-38720492
38	CTCF	chr19:38720340-38720490	WERI-Rb-1	eye:	n/a	chr19:38720402-38720415
39	CTCF	chr19:38720411-38720529	GM13976	blood:	n/a	chr19:38720482-38720492
40	CTCF	chr19:38719400-38719550	HCPEpiC	choroid plexus:	n/a	chr19:38719523-38719541
41	CTCF	chr19:38720400-38720550	HMF	breast:	n/a	chr19:38720402-38720415 chr19:38720482-38720492
42	CTCF	chr19:38720440-38720590	HepG2	liver:	n/a	chr19:38720482-38720492
43	CTCF	chr19:38720380-38720530	NHLF	lung:	n/a	chr19:38720402-38720415 chr19:38720482-38720492
44	CTCF	chr19:38720340-38720490	Caco-2	colon:	n/a	chr19:38720402-38720415
45	CTCF	chr19:38720360-38720510	AG04450	lung:	n/a	chr19:38720402-38720415 chr19:38720482-38720492
46	CTCF	chr19:38720474-38720483	GM19240	blood:	n/a	n/a
47	CTCF	chr19:38720320-38720470	HFF	foreskin:	n/a	chr19:38720402-38720415
48	CTCF	chr19:38720400-38720550	GM12867	blood:	n/a	chr19:38720402-38720415 chr19:38720482-38720492
49	CTCF	chr19:38720380-38720530	HPAF	blood vessel:	n/a	chr19:38720402-38720415 chr19:38720482-38720492
50	CTCF	chr19:38720387-38720564	GM12878	blood:	n/a	chr19:38720402-38720415 chr19:38720482-38720492

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:38720072-38720122	HCF	heart:	n/a
2	chr19:38720235-38720285	NHDF-neo	bronchial:	n/a
3	chr19:38720072-38720122	AoSMC	blood vessel:	n/a
4	chr19:38720072-38720122	SK-N-SH_RA	brain:	n/a
5	chr19:38719523-38719573	HCT-116	colon:	n/a
6	chr19:38719523-38719573	HIPEpiC	eye:	n/a
7	chr19:38719523-38719573	HRCEpiC	kidney:	n/a
8	chr19:38719523-38719573	IMR90	lung:	fetal
9	chr19:38720235-38720285	AG10803	skin:	n/a
10	chr19:38720235-38720285	BE2_C	brain:	n/a
11	chr19:38719523-38719573	GM12891	blood:	n/a
12	chr19:38720235-38720285	GM19239	blood:	n/a
13	chr19:38720072-38720122	NT2-D1	testis:	n/a
14	chr19:38720072-38720122	BJ	skin:	n/a
15	chr19:38720235-38720285	PFSK-1	brain:	n/a
16	chr19:38720072-38720122	ovcar-3	ovarian:	n/a
17	chr19:38720072-38720122	HNPCEpiC	eye:	n/a
18	chr19:38720235-38720285	Jurkat	blood:	n/a
19	chr19:38720072-38720122	HRPEpiC	eye:	n/a
20	chr19:38720072-38720122	AG09309	skin:	n/a
21	chr19:38720235-38720285	NB4	blood:	n/a
22	chr19:38720235-38720285	HRPEpiC	eye:	n/a
23	chr19:38720235-38720285	HCT-116	colon:	n/a
24	chr19:38719523-38719573	MCF-7	breast:	n/a
25	chr19:38720235-38720285	NT2-D1	testis:	n/a
26	chr19:38720235-38720285	LNCaP	prostate:	n/a
27	chr19:38720072-38720122	U87	brain:	n/a
28	chr19:38719523-38719573	SK-N-MC	brain:	n/a
29	chr19:38720072-38720122	ProgFib	skin:	n/a
30	chr19:38719523-38719573	AG04450	lung:	fetal
31	chr19:38720235-38720285	HMEC	breast:	n/a
32	chr19:38720072-38720122	HCT-116	colon:	n/a
33	chr19:38719523-38719573	ProgFib	skin:	n/a
34	chr19:38720235-38720285	SKMC	muscle:	n/a
35	chr19:38720235-38720285	HRE	kidney:	n/a
36	chr19:38720235-38720285	GM12878	blood:	n/a
37	chr19:38720235-38720285	GM12891	blood:	n/a
38	chr19:38720072-38720122	IMR90	lung:	fetal
39	chr19:38720235-38720285	HCM	heart:	n/a
40	chr19:38719523-38719573	HAEpiC	amniotic membrane:	n/a
41	chr19:38720235-38720285	PANC-1	pancreas:	n/a
42	chr19:38719523-38719573	AG10803	skin:	n/a
43	chr19:38719523-38719573	HRE	kidney:	n/a
44	chr19:38720072-38720122	T-47D	breast:	n/a
45	chr19:38720072-38720122	HRE	kidney:	n/a
46	chr19:38720072-38720122	GM12891	blood:	n/a
47	chr19:38720235-38720285	SK-N-MC	brain:	n/a
48	chr19:38720072-38720122	PrEC	prostate:	n/a
49	chr19:38720235-38720285	BJ	skin:	n/a
50	chr19:38720235-38720285	HCPEpiC	choroid plexus:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:38711348..38714655-chr19:38718716..38721513,3	MCF-7	breast:
2	chr19:38718989..38720789-chr19:38865301..38866855,2	MCF-7	breast:
3	chr19:38719348..38721458-chr19:38874867..38876458,2	K562	blood:
4	chr19:38705043..38707659-chr19:38719005..38721797,2	K562	blood:
5	chr19:38718266..38721870-chr19:38794040..38798765,4	MCF-7	breast:
6	chr19:38713729..38715323-chr19:38716058..38719030,2	K562	blood:
7	chr19:38651241..38653210-chr19:38716095..38718461,3	K562	blood:
8	chr19:38715608..38719883-chr19:38825304..38828918,6	K562	blood:
9	chr19:38715204..38718579-chr19:38826351..38828588,3	K562	blood:
10	chr19:38717093..38718677-chr19:38724126..38726976,2	K562	blood:
11	chr19:38720388..38721001-chr19:38825841..38826415,2	K562	blood:
12	chr19:38718052..38720655-chr19:38755234..38758069,2	MCF-7	breast:
13	chr19:38713729..38715404-chr19:38717530..38720413,2	K562	blood:
14	chr19:38716917..38718796-chr19:38722935..38725683,2	MCF-7	breast:
15	chr19:38715242..38718088-chr19:38941035..38943575,2	K562	blood:
16	chr19:38651349..38653210-chr19:38716095..38718461,2	K562	blood:
17	chr19:38717810..38720228-chr19:38876711..38878921,2	K562	blood:

Variant related genes	Relation type
DPF1	TF binding region
DPF1	CpG island
ENSG00000167644	chromatin interactions
ENSG00000267090	chromatin interactions
ENSG00000167642	chromatin interactions
ENSG00000167645	chromatin interactions
ENSG00000179168	chromatin interactions
ENSG00000099338	chromatin interactions
ENSG00000099341	chromatin interactions
ENSG00000011332	chromatin interactions

Extended variants
information (count: 63 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186821311	chr19:38717996-38717997	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs546961760	chr19:38718014-38718015	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs562153435	chr19:38718036-38718037	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs113289017	chr19:38718044-38718045	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs529267008	chr19:38718115-38718116	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs551095104	chr19:38718154-38718155	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs569331571	chr19:38718162-38718163	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs370438631	chr19:38718199-38718200	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs552432233	chr19:38718202-38718203	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs570540244	chr19:38718209-38718210	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs560960974	chr19:38718213-38718214	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs534962068	chr19:38718237-38718238	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs528131805	chr19:38718238-38718239	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs552992668	chr19:38718330-38718331	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs150720483	chr19:38718406-38718407	Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs111745942	chr19:38718510-38718511	Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs565205844	chr19:38718551-38718552	Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs556655608	chr19:38718559-38718560	Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs574966998	chr19:38718662-38718663	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs545470746	chr19:38718691-38718692	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs59446513	chr19:38718705-38718706	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs564372490	chr19:38718708-38718709	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs137904622	chr19:38718715-38718716	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs188432510	chr19:38718744-38718745	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs540965946	chr19:38718768-38718769	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs562194100	chr19:38718814-38718815	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs529295835	chr19:38718828-38718829	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs550958007	chr19:38718834-38718835	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs181208914	chr19:38718852-38718853	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs376704606	chr19:38718880-38718881	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs2891599	chr19:38718961-38718962	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs2384781	chr19:38719007-38719008	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs570675584	chr19:38719030-38719031	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs112415499	chr19:38719050-38719051	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs528228091	chr19:38719076-38719077	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs546883318	chr19:38719116-38719117	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs568230632	chr19:38719126-38719127	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs535104765	chr19:38719129-38719130	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs556565024	chr19:38719148-38719149	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs568496224	chr19:38719158-38719159	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs368058678	chr19:38719241-38719242	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs8101485	chr19:38719302-38719303	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs547812418	chr19:38719332-38719333	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs557564017	chr19:38719366-38719367	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs569037897	chr19:38719398-38719399	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs540428956	chr19:38719404-38719405	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs73630123	chr19:38719409-38719410	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs374330488	chr19:38719497-38719498	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs574358323	chr19:38719696-38719697	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs544906943	chr19:38719718-38719719	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD

Chromatin state (count:310 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38715200-38718200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr19:38715200-38719000	Weak transcription	Right Atrium	heart
3	chr19:38715200-38719200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr19:38715200-38719200	Weak transcription	Pancreas	Pancrea
5	chr19:38715400-38718200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr19:38715400-38718200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr19:38715400-38718400	Weak transcription	Brain Angular Gyrus	brain
8	chr19:38715400-38718400	Weak transcription	Fetal Heart	heart
9	chr19:38715400-38718600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr19:38715400-38719000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr19:38715400-38719200	Weak transcription	NH-A	brain
12	chr19:38715400-38719200	Weak transcription	NHDF-Ad	bronchial
13	chr19:38715600-38718000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr19:38715600-38718000	Weak transcription	NHEK	skin
15	chr19:38715600-38719400	Weak transcription	Brain Anterior Caudate	brain
16	chr19:38715600-38719600	Weak transcription	Hela-S3	cervix
17	chr19:38716600-38718000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr19:38716600-38718000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr19:38716600-38718400	Enhancers	H1 Cell Line	embryonic stem cell
20	chr19:38716600-38718600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr19:38716600-38719200	Enhancers	A549	lung
22	chr19:38716600-38720800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
23	chr19:38716800-38718600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr19:38716800-38719200	Enhancers	Fetal Brain Male	brain
25	chr19:38717000-38718000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr19:38717000-38718800	Flanking Active TSS	Fetal Brain Female	brain
27	chr19:38717200-38718200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr19:38717200-38718600	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr19:38717400-38718000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr19:38717400-38718200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
31	chr19:38717400-38718400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr19:38717400-38718600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
33	chr19:38717400-38718600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr19:38717400-38719200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr19:38717600-38718000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr19:38717600-38718000	Enhancers	Brain Germinal Matrix	brain
37	chr19:38717600-38718200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
38	chr19:38717600-38719400	Weak transcription	K562	blood
39	chr19:38718000-38718200	Enhancers	H9 Cell Line	embryonic stem cell
40	chr19:38718000-38718200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
41	chr19:38718000-38718200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
42	chr19:38718000-38718400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
43	chr19:38718000-38718400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
44	chr19:38718000-38718400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr19:38718000-38718600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr19:38718000-38718800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
47	chr19:38718000-38718800	Flanking Active TSS	Brain Germinal Matrix	brain
48	chr19:38718000-38719000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr19:38718000-38719000	Enhancers	NHEK	skin
50	chr19:38718000-38720800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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