Variant report

Variant	esv3380303
Chromosome Location	chr19:51842165-51844913
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:942)
CpG islands
(count:245)
Chromatin interactive
region (count:16)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:942 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:51842978-51842994	K562	blood:	n/a	n/a
2	ARID3A	chr19:51841748-51842268	K562	blood:	n/a	n/a
3	ARID3A	chr19:51843337-51843507	K562	blood:	n/a	n/a
4	ARID3A	chr19:51842048-51842325	HepG2	liver:	n/a	n/a
5	ATF3	chr19:51843273-51843537	H1-hESC	embryonic stem cell:	n/a	chr19:51843422-51843442
6	ATF3	chr19:51843274-51843603	K562	blood:	n/a	chr19:51843422-51843442
7	ATF3	chr19:51843247-51843516	HepG2	liver:	n/a	chr19:51843422-51843442
8	ATF3	chr19:51843261-51843563	GM12878	blood:	n/a	chr19:51843422-51843442
9	ATF3	chr19:51843238-51843515	GM12878	blood:	n/a	chr19:51843422-51843442
10	BACH1	chr19:51841979-51842317	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr19:51843268-51843709	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr19:51842014-51842241	K562	blood:	n/a	n/a
13	BCL3	chr19:51842068-51843074	A549	lung:	n/a	chr19:51842574-51842587 chr19:51842634-51842643
14	BCLAF1	chr19:51843207-51843518	GM12878	blood:	n/a	chr19:51843435-51843448 chr19:51843451-51843460 chr19:51843446-51843459
15	BHLHE40	chr19:51842591-51843923	K562	blood:	n/a	n/a
16	BHLHE40	chr19:51843251-51843667	HepG2	liver:	n/a	n/a
17	BHLHE40	chr19:51843290-51843608	A549	lung:	n/a	n/a
18	BHLHE40	chr19:51841999-51842556	GM12878	blood:	n/a	n/a
19	BHLHE40	chr19:51841742-51842333	K562	blood:	n/a	n/a
20	BHLHE40	chr19:51843218-51843841	GM12878	blood:	n/a	n/a
21	BRCA1	chr19:51842890-51843571	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr19:51841981-51842254	Hela-S3	cervix:	n/a	n/a
23	CBX3	chr19:51843234-51843896	K562	blood:	n/a	n/a
24	CBX3	chr19:51841598-51842726	K562	blood:	n/a	n/a
25	CCNT2	chr19:51843009-51844005	K562	blood:	n/a	chr19:51843969-51843978 chr19:51843221-51843230 chr19:51843893-51843902
26	CCNT2	chr19:51842057-51842446	K562	blood:	n/a	n/a
27	CEBPB	chr19:51841987-51842319	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr19:51842995-51843531	Hela-S3	cervix:	n/a	n/a
29	CEBPD	chr19:51842036-51842286	HepG2	liver:	n/a	n/a
30	CEBPD	chr19:51843199-51843492	HepG2	liver:	n/a	n/a
31	CHD1	chr19:51842629-51843048	GM12878	blood:	n/a	n/a
32	CHD1	chr19:51843329-51843645	GM12878	blood:	n/a	n/a
33	CHD2	chr19:51843407-51843504	HepG2	liver:	n/a	n/a
34	CHD2	chr19:51842932-51843612	Hela-S3	cervix:	n/a	n/a
35	CHD2	chr19:51843342-51843647	GM12878	blood:	n/a	n/a
36	CHD2	chr19:51842094-51842371	Hela-S3	cervix:	n/a	n/a
37	CHD2	chr19:51842044-51842288	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD2	chr19:51843299-51843625	K562	blood:	n/a	n/a
39	CHD2	chr19:51842011-51842212	HepG2	liver:	n/a	n/a
40	CREB1	chr19:51842024-51842289	A549	lung:	n/a	n/a
41	CREB1	chr19:51842020-51842375	H1-hESC	embryonic stem cell:	n/a	n/a
42	CREB1	chr19:51842817-51843945	A549	lung:	n/a	n/a
43	CREB1	chr19:51843354-51843569	A549	lung:	n/a	n/a
44	CREB1	chr19:51842806-51843960	H1-hESC	embryonic stem cell:	n/a	n/a
45	CREB1	chr19:51842787-51844033	K562	blood:	n/a	n/a
46	CREB1	chr19:51841903-51842549	A549	lung:	n/a	n/a
47	CTCF	chr19:51842040-51842190	HepG2	liver:	n/a	n/a
48	CTCF	chr19:51842080-51842230	HCM	heart:	n/a	n/a
49	CTCF	chr19:51842120-51842270	GM12870	blood:	n/a	n/a
50	CTCF	chr19:51842040-51842190	SAEC	small airway:	n/a	n/a

(count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:51842336-51842386	MCF-7	breast:	n/a
2	chr19:51842336-51842386	MCF-7	breast:	n/a
3	chr19:51842336-51842386	HMEC	breast:	n/a
4	chr19:51842233-51842283	NH-A	brain:	n/a
5	chr19:51842336-51842386	PANC-1	pancreas:	n/a
6	chr19:51842336-51842386	IMR90	lung:	fetal
7	chr19:51842233-51842283	SK-N-SH	brain:	n/a
8	chr19:51842336-51842386	GM12878	blood:	n/a
9	chr19:51842233-51842283	AG04449	skin:	fetal
10	chr19:51843601-51843651	AG04449	skin:	fetal
11	chr19:51843854-51843904	AG04449	skin:	fetal
12	chr19:51843601-51843651	HAEpiC	amniotic membrane:	n/a
13	chr19:51843854-51843904	HRE	kidney:	n/a
14	chr19:51843601-51843651	RPTEC	kidney:	n/a
15	chr19:51842336-51842386	PFSK-1	brain:	n/a
16	chr19:51842336-51842386	HRE	kidney:	n/a
17	chr19:51843854-51843904	HRCEpiC	kidney:	n/a
18	chr19:51842233-51842283	Hepatocyte	liver:	n/a
19	chr19:51843601-51843651	AG09319	gingival:	n/a
20	chr19:51843601-51843651	HMEC	breast:	n/a
21	chr19:51842336-51842386	HCF	heart:	n/a
22	chr19:51842233-51842283	A549	lung:	n/a
23	chr19:51843601-51843651	PFSK-1	brain:	n/a
24	chr19:51842336-51842386	HCT-116	colon:	n/a
25	chr19:51843601-51843651	PrEC	prostate:	n/a
26	chr19:51842336-51842386	BJ	skin:	n/a
27	chr19:51843854-51843904	SK-N-SH	brain:	n/a
28	chr19:51843854-51843904	LNCaP	prostate:	n/a
29	chr19:51842336-51842386	GM19239	blood:	n/a
30	chr19:51843601-51843651	MCF-7	breast:	n/a
31	chr19:51842233-51842283	IMR90	lung:	fetal
32	chr19:51843601-51843651	A549	lung:	n/a
33	chr19:51843854-51843904	GM12892	blood:	n/a
34	chr19:51842336-51842386	HNPCEpiC	eye:	n/a
35	chr19:51842336-51842386	GM06990	blood:	n/a
36	chr19:51843601-51843651	AG09309	skin:	n/a
37	chr19:51842233-51842283	ovcar-3	ovarian:	n/a
38	chr19:51843601-51843651	HIPEpiC	eye:	n/a
39	chr19:51843601-51843651	AG10803	skin:	n/a
40	chr19:51843601-51843651	T-47D	breast:	n/a
41	chr19:51842233-51842283	BE2_C	brain:	n/a
42	chr19:51843601-51843651	HRPEpiC	eye:	n/a
43	chr19:51842336-51842386	AG04449	skin:	fetal
44	chr19:51843854-51843904	ProgFib	skin:	n/a
45	chr19:51842233-51842283	NHDF-neo	bronchial:	n/a
46	chr19:51843854-51843904	H1-hESC	embryonic stem cell:	embryo
47	chr19:51843601-51843651	AG04450	lung:	fetal
48	chr19:51842336-51842386	ECC-1	luminal epithelium:	n/a
49	chr19:51843854-51843904	AG09319	gingival:	n/a
50	chr19:51843854-51843904	SKMC	muscle:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:51841410..51842759-chr19:51910739..51912174,8	K562	blood:
2	chr19:51841279..51843677-chr19:51919444..51921911,2	K562	blood:
3	chr19:51840838..51845657-chr19:51892354..51900411,18	K562	blood:
4	chr14:23119976..23120528-chr19:51843337..51843862,2	Hela-S3	cervix:
5	chr19:51841483..51843929-chr19:51917621..51920239,2	K562	blood:
6	chr19:51841717..51843747-chr19:51891710..51894546,2	K562	blood:
7	chr19:51841314..51846809-chr19:51868154..51872523,19	K562	blood:
8	chr19:51661756..51662526-chr19:51841495..51842430,2	K562	blood:
9	chr19:51843178..51845619-chr19:52074404..52075904,2	K562	blood:
10	chr19:51841257..51845442-chr19:51896216..51899567,12	K562	blood:
11	chr19:51841590..51847683-chr19:51867906..51872035,11	MCF-7	breast:
12	chr19:51841175..51847735-chr19:51867771..51872496,21	MCF-7	breast:
13	chr19:51841684..51842506-chr19:51897336..51897848,2	K562	blood:
14	chr19:51841958..51842666-chr19:51941896..51943104,5	MCF-7	breast:
15	chr19:51841780..51842675-chr19:51910687..51911648,6	MCF-7	breast:
16	chr19:51841626..51842658-chr19:51941287..51942856,6	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IGLON5-1	chr19:51844320-51844428	ENSG00000267905.1
2	lnc-IGLON5-1	chr19:51843949-51843971	ENSG00000267905.1
3	lnc-IGLON5-1	chr19:51843949-51843971	ENSG00000267905.1
4	lnc-IGLON5-1	chr19:51844320-51844428	ENSG00000267905.1

No data

Variant related genes	Relation type
ENSG00000267984	TF binding region
ENSG00000267905	TF binding region
VSIG10L	TF binding region
ENSG00000267984	CpG island
ENSG00000267905	CpG island
VSIG10L	CpG island
ENSG00000255441	chromatin interactions
ENSG00000142512	chromatin interactions
ENSG00000160318	chromatin interactions
ENSG00000268889	chromatin interactions
ENSG00000105379	chromatin interactions
ENSG00000268520	chromatin interactions
ENSG00000269403	chromatin interactions
ENSG00000105497	chromatin interactions
ENSG00000262874	chromatin interactions

Extended variants
information (count: 88 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527434561	chr19:51842215-51842216	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs113853149	chr19:51842334-51842335	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs192962117	chr19:51842357-51842358	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs570404686	chr19:51842361-51842362	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs537454506	chr19:51842411-51842412	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs376881274	chr19:51842447-51842448	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs146811744	chr19:51842478-51842479	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs556954561	chr19:51842525-51842526	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs568434354	chr19:51842555-51842556	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs535723704	chr19:51842603-51842604	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs553982135	chr19:51842659-51842660	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs184618700	chr19:51842704-51842705	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs549383177	chr19:51842743-51842744	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs539596702	chr19:51842781-51842782	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs558237415	chr19:51842791-51842792	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs576948435	chr19:51842870-51842871	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs576419181	chr19:51842935-51842936	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs543853232	chr19:51843032-51843033	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
19	rs562035637	chr19:51843069-51843070	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
20	rs574814263	chr19:51843142-51843143	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
21	rs542134305	chr19:51843161-51843162	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
22	rs12982441	chr19:51843162-51843163	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
23	rs563986750	chr19:51843218-51843219	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
24	rs116164964	chr19:51843235-51843236	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
25	rs552042636	chr19:51843269-51843270	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
26	rs564220586	chr19:51843292-51843293	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
27	rs531276046	chr19:51843338-51843339	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
28	rs549391497	chr19:51843449-51843450	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
29	rs567705032	chr19:51843458-51843459	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
30	rs535787287	chr19:51843461-51843462	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
31	rs113495472	chr19:51843479-51843480	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
32	rs548069345	chr19:51843491-51843492	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
33	rs566198508	chr19:51843507-51843508	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
34	rs540034011	chr19:51843580-51843581	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
35	rs6509528	chr19:51843589-51843590	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs189503359	chr19:51843623-51843624	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
37	rs368579245	chr19:51843651-51843652	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
38	rs371125630	chr19:51843660-51843661	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs148937058	chr19:51843677-51843678	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs555836839	chr19:51843737-51843738	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
41	rs574079156	chr19:51843741-51843742	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
42	rs541389786	chr19:51843780-51843781	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
43	rs7259266	chr19:51843808-51843809	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs142820621	chr19:51843813-51843814	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
45	rs543197299	chr19:51843858-51843859	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
46	rs561194386	chr19:51843908-51843909	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
47	rs531338047	chr19:51843963-51843964	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
48	rs543107424	chr19:51844060-51844061	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs112262383	chr19:51844110-51844111	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs10405101	chr19:51844125-51844126	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	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
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Adrenocortical carcinoma	18281524	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21781307	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:530 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51834200-51842200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr19:51834800-51842200	Weak transcription	Gastric	stomach
3	chr19:51834800-51842200	Weak transcription	Pancreas	Pancrea
4	chr19:51835000-51842200	Weak transcription	Left Ventricle	heart
5	chr19:51835800-51842200	Weak transcription	Aorta	Aorta
6	chr19:51837600-51842200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr19:51841200-51842200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr19:51841200-51842200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr19:51841600-51842200	Enhancers	Placenta	Placenta
10	chr19:51841600-51842600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr19:51841600-51842600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr19:51841600-51843200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr19:51841800-51842200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr19:51841800-51842200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr19:51841800-51842200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr19:51841800-51842200	Enhancers	Liver	Liver
17	chr19:51841800-51842200	Flanking Active TSS	Brain Angular Gyrus	brain
18	chr19:51841800-51842200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr19:51841800-51842200	Active TSS	Colonic Mucosa	Colon
20	chr19:51841800-51842200	Bivalent/Poised TSS	Fetal Brain Female	brain
21	chr19:51841800-51842200	Bivalent Enhancer	Fetal Lung	lung
22	chr19:51841800-51842200	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr19:51841800-51842200	Enhancers	Placenta Amnion	Placenta Amnion
24	chr19:51841800-51842200	Enhancers	Small Intestine	intestine
25	chr19:51841800-51842200	Enhancers	Stomach Mucosa	stomach
26	chr19:51841800-51842200	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr19:51841800-51842200	Flanking Bivalent TSS/Enh	Thymus	Thymus
28	chr19:51841800-51842200	Enhancers	Spleen	Spleen
29	chr19:51841800-51842200	Flanking Active TSS	Hela-S3	cervix
30	chr19:51841800-51842400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr19:51841800-51842400	Enhancers	Fetal Heart	heart
32	chr19:51841800-51842600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr19:51841800-51842600	Bivalent Enhancer	Fetal Brain Male	brain
34	chr19:51841800-51842600	Active TSS	GM12878-XiMat	blood
35	chr19:51841800-51842600	Active TSS	HSMM	muscle
36	chr19:51841800-51842600	Active TSS	NHEK	skin
37	chr19:51841800-51842800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr19:51841800-51843000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr19:51841800-51843000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr19:51841800-51843000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr19:51841800-51843000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr19:51841800-51843000	Active TSS	Fetal Kidney	kidney
43	chr19:51841800-51843000	Flanking Active TSS	Dnd41	blood
44	chr19:51841800-51843000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr19:51841800-51843200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr19:51841800-51843200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr19:51841800-51843400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr19:51841800-51843600	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr19:51841800-51843600	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr19:51841800-51843600	Active TSS	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links