Variant report

Variant	esv3440033
Chromosome Location	chr19:38718162-38720160
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:97)
CpG islands
(count:123)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:97 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr19:38718739-38718888	H1-hESC	embryonic stem cell:	n/a	n/a
2	CHD1	chr19:38719662-38719882	H1-hESC	embryonic stem cell:	n/a	chr19:38719767-38719774
3	CHD2	chr19:38718807-38719471	H1-hESC	embryonic stem cell:	n/a	n/a
4	CHD2	chr19:38719171-38719193	HepG2	liver:	n/a	n/a
5	CREB1	chr19:38719389-38719778	A549	lung:	n/a	n/a
6	CREB1	chr19:38720139-38720732	A549	lung:	n/a	n/a
7	CTBP2	chr19:38719154-38720005	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr19:38719500-38719650	K562	blood:	n/a	chr19:38719523-38719541
9	CTCF	chr19:38719520-38719670	BJ	skin:	n/a	chr19:38719523-38719541
10	CTCF	chr19:38719400-38719550	HCPEpiC	choroid plexus:	n/a	chr19:38719523-38719541
11	CTCF	chr19:38719460-38719610	HUVEC	blood vessel:	n/a	chr19:38719523-38719541
12	CTCF	chr19:38719420-38719570	HRE	kidney:	n/a	chr19:38719523-38719541
13	CUX1	chr19:38718164-38718355	K562	blood:	n/a	n/a
14	E2F6	chr19:38718611-38719178	H1-hESC	embryonic stem cell:	n/a	n/a
15	E2F6	chr19:38719090-38719334	K562	blood:	n/a	chr19:38719223-38719235
16	E2F6	chr19:38718577-38719554	H1-hESC	embryonic stem cell:	n/a	chr19:38719223-38719235
17	E2F6	chr19:38718700-38718959	K562	blood:	n/a	n/a
18	EBF1	chr19:38718437-38718549	GM12878	blood:	n/a	chr19:38718465-38718476 chr19:38718468-38718477
19	EGR1	chr19:38719039-38719280	K562	blood:	n/a	n/a
20	ELF1	chr19:38719200-38719537	K562	blood:	n/a	n/a
21	ELF1	chr19:38719187-38719735	GM12878	blood:	n/a	n/a
22	ELF1	chr19:38719207-38719558	K562	blood:	n/a	n/a
23	FOS	chr19:38718335-38718583	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr19:38718359-38718566	MCF10A-Er-Src	breast:	n/a	n/a
25	GTF2F1	chr19:38718416-38718450	H1-hESC	embryonic stem cell:	n/a	n/a
26	HA-E2F1	chr19:38720077-38720623	Hela-S3	cervix:	n/a	chr19:38720172-38720181 chr19:38720133-38720142 chr19:38720172-38720184 chr19:38720400-38720409
27	JUND	chr19:38719047-38719343	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAX	chr19:38719096-38719783	A549	lung:	n/a	chr19:38719671-38719681
29	MAX	chr19:38719074-38719396	K562	blood:	n/a	n/a
30	MAX	chr19:38718603-38719545	H1-hESC	embryonic stem cell:	n/a	n/a
31	MAX	chr19:38718597-38718911	H1-hESC	embryonic stem cell:	n/a	n/a
32	MAX	chr19:38718706-38718992	K562	blood:	n/a	n/a
33	MAX	chr19:38720042-38720867	A549	lung:	n/a	chr19:38720133-38720143
34	MAX	chr19:38718543-38719486	H1-hESC	embryonic stem cell:	n/a	n/a
35	MAX	chr19:38719096-38719651	A549	lung:	n/a	n/a
36	MAX	chr19:38720153-38720690	A549	lung:	n/a	n/a
37	MAZ	chr19:38719170-38719385	K562	blood:	n/a	n/a
38	MAZ	chr19:38719093-38720928	IMR90	lung:	n/a	chr19:38720133-38720143 chr19:38719671-38719681
39	MXI1	chr19:38718685-38718858	H1-hESC	embryonic stem cell:	n/a	n/a
40	MXI1	chr19:38718532-38721022	SK-N-SH	brain:	n/a	n/a
41	MXI1	chr19:38720049-38720756	IMR90	lung:	n/a	n/a
42	MYC	chr19:38719233-38719426	H1-hESC	embryonic stem cell:	n/a	n/a
43	NANOG	chr19:38719014-38719341	H1-hESC	embryonic stem cell:	n/a	n/a
44	NR3C1	chr19:38718917-38719662	A549	lung:	n/a	chr19:38719588-38719601
45	POLR2A	chr19:38718387-38719440	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr19:38718559-38720966	H1-neurons	neurons:	n/a	n/a
47	POLR2A	chr19:38720112-38720433	HUVEC	blood vessel:	n/a	n/a
48	POLR2A	chr19:38720151-38720432	ECC-1	luminal epithelium:	n/a	n/a
49	POLR2A	chr19:38718670-38718850	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr19:38718631-38720930	H1-neurons	neurons:	n/a	n/a

(count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:38719523-38719573	SAEC	small airway:	n/a
2	chr19:38719523-38719573	SAEC	small airway:	n/a
3	chr19:38719523-38719573	NH-A	brain:	n/a
4	chr19:38719523-38719573	HMEC	breast:	n/a
5	chr19:38720072-38720122	HIPEpiC	eye:	n/a
6	chr19:38720072-38720122	NHDF-neo	bronchial:	n/a
7	chr19:38720072-38720122	Jurkat	blood:	n/a
8	chr19:38720072-38720122	HCT-116	colon:	n/a
9	chr19:38720072-38720122	GM06990	blood:	n/a
10	chr19:38720072-38720122	AoSMC	blood vessel:	n/a
11	chr19:38720072-38720122	GM12878	blood:	n/a
12	chr19:38720072-38720122	RPTEC	kidney:	n/a
13	chr19:38720072-38720122	HEK293	kidney:	embryo
14	chr19:38720072-38720122	Hepatocyte	liver:	n/a
15	chr19:38720072-38720122	T-47D	breast:	n/a
16	chr19:38719523-38719573	H1-hESC	embryonic stem cell:	embryo
17	chr19:38719523-38719573	GM19239	blood:	n/a
18	chr19:38719523-38719573	SK-N-MC	brain:	n/a
19	chr19:38720072-38720122	ProgFib	skin:	n/a
20	chr19:38720072-38720122	NB4	blood:	n/a
21	chr19:38720072-38720122	Caco-2	colon:	n/a
22	chr19:38719523-38719573	Hepatocyte	liver:	n/a
23	chr19:38719523-38719573	Hela-S3	cervix:	n/a
24	chr19:38719523-38719573	AG09319	gingival:	n/a
25	chr19:38719523-38719573	T-47D	breast:	n/a
26	chr19:38720072-38720122	NH-A	brain:	n/a
27	chr19:38719523-38719573	HNPCEpiC	eye:	n/a
28	chr19:38719523-38719573	HPAEpiC	pulmonary alveolar:	n/a
29	chr19:38719523-38719573	AG09309	skin:	n/a
30	chr19:38720072-38720122	HL-60	blood:	n/a
31	chr19:38720072-38720122	SK-N-MC	brain:	n/a
32	chr19:38720072-38720122	NT2-D1	testis:	n/a
33	chr19:38720072-38720122	BJ	skin:	n/a
34	chr19:38720072-38720122	H1-hESC	embryonic stem cell:	embryo
35	chr19:38719523-38719573	SKMC	muscle:	n/a
36	chr19:38720072-38720122	U87	brain:	n/a
37	chr19:38719523-38719573	NHDF-neo	bronchial:	n/a
38	chr19:38720072-38720122	AG10803	skin:	n/a
39	chr19:38720072-38720122	AG04449	skin:	fetal
40	chr19:38720072-38720122	SK-N-SH_RA	brain:	n/a
41	chr19:38720072-38720122	MCF10A-Er-Src	breast:	n/a
42	chr19:38719523-38719573	K562	blood:	n/a
43	chr19:38719523-38719573	HUVEC	blood vessel:	n/a
44	chr19:38720072-38720122	HNPCEpiC	eye:	n/a
45	chr19:38719523-38719573	GM12878	blood:	n/a
46	chr19:38719523-38719573	NHBE	bronchial:	n/a
47	chr19:38719523-38719573	ovcar-3	ovarian:	n/a
48	chr19:38720072-38720122	IMR90	lung:	fetal
49	chr19:38720072-38720122	AG09319	gingival:	n/a
50	chr19:38719523-38719573	MCF10A-Er-Src	breast:	n/a

(count:15 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 55 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	rs562912629	chr19:38719736-38719737	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
46	rs149495200	chr19:38719784-38719785	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
47	rs545523872	chr19:38719807-38719808	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
48	rs560344093	chr19:38719854-38719855	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
49	rs528304609	chr19:38719865-38719866	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	rs368722142	chr19:38719930-38719931	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	8 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:282 , 50 per page) page: 1 2 3 4 5 6

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	chr19:38715600-38719400	Weak transcription	Brain Anterior Caudate	brain
14	chr19:38715600-38719600	Weak transcription	Hela-S3	cervix
15	chr19:38716600-38718400	Enhancers	H1 Cell Line	embryonic stem cell
16	chr19:38716600-38718600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr19:38716600-38719200	Enhancers	A549	lung
18	chr19:38716600-38720800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr19:38716800-38718600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr19:38716800-38719200	Enhancers	Fetal Brain Male	brain
21	chr19:38717000-38718800	Flanking Active TSS	Fetal Brain Female	brain
22	chr19:38717200-38718200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:38717200-38718600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr19:38717400-38718200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
25	chr19:38717400-38718400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr19:38717400-38718600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
27	chr19:38717400-38718600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr19:38717400-38719200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr19:38717600-38718200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
30	chr19:38717600-38719400	Weak transcription	K562	blood
31	chr19:38718000-38718200	Enhancers	H9 Cell Line	embryonic stem cell
32	chr19:38718000-38718200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
33	chr19:38718000-38718200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
34	chr19:38718000-38718400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
35	chr19:38718000-38718400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
36	chr19:38718000-38718400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr19:38718000-38718600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr19:38718000-38718800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
39	chr19:38718000-38718800	Flanking Active TSS	Brain Germinal Matrix	brain
40	chr19:38718000-38719000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr19:38718000-38719000	Enhancers	NHEK	skin
42	chr19:38718000-38720800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr19:38718200-38718400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr19:38718200-38718400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
45	chr19:38718200-38718400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr19:38718200-38718600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
47	chr19:38718200-38718800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr19:38718200-38718800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
49	chr19:38718200-38718800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr19:38718200-38718800	Bivalent Enhancer	Liver	Liver

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