Variant report

Variant	esv3359345
Chromosome Location	chr19:39832262-39834360
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:811)
CpG islands
(count:305)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:811 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:39832469-39832737	HepG2	liver:	n/a	n/a
2	ARID3A	chr19:39832530-39832934	K562	blood:	n/a	n/a
3	ATF1	chr19:39832207-39833079	K562	blood:	n/a	n/a
4	ATF2	chr19:39832278-39832788	GM12878	blood:	n/a	n/a
5	ATF3	chr19:39832054-39832919	A549	lung:	n/a	chr19:39832774-39832783 chr19:39832867-39832876 chr19:39832829-39832843 chr19:39832792-39832801
6	ATF3	chr19:39832913-39833143	K562	blood:	n/a	n/a
7	ATF3	chr19:39832167-39832932	A549	lung:	n/a	chr19:39832774-39832783 chr19:39832867-39832876 chr19:39832829-39832843 chr19:39832792-39832801
8	BACH1	chr19:39832369-39832765	H1-hESC	embryonic stem cell:	n/a	n/a
9	BCL3	chr19:39831615-39832937	A549	lung:	n/a	chr19:39832792-39832805
10	BCL3	chr19:39832070-39832943	A549	lung:	n/a	chr19:39832792-39832805
11	BCLAF1	chr19:39832079-39832910	GM12878	blood:	n/a	chr19:39832792-39832805
12	BCLAF1	chr19:39832336-39832776	GM12878	blood:	n/a	n/a
13	BCLAF1	chr19:39832170-39832766	K562	blood:	n/a	n/a
14	BHLHE40	chr19:39832408-39833017	K562	blood:	n/a	n/a
15	BHLHE40	chr19:39832446-39832911	GM12878	blood:	n/a	n/a
16	BRCA1	chr19:39832552-39832685	HepG2	liver:	n/a	n/a
17	BRCA1	chr19:39832230-39833042	Hela-S3	cervix:	n/a	n/a
18	CBX3	chr19:39832013-39832897	K562	blood:	n/a	n/a
19	CBX3	chr19:39832065-39832764	K562	blood:	n/a	n/a
20	CCNT2	chr19:39832418-39833177	K562	blood:	n/a	chr19:39832626-39832635 chr19:39832792-39832801 chr19:39832781-39832790 chr19:39832799-39832808
21	CEBPB	chr19:39832713-39832752	HepG2	liver:	n/a	n/a
22	CEBPB	chr19:39832414-39833093	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr19:39832132-39832744	GM12878	blood:	n/a	n/a
24	CEBPB	chr19:39832977-39833015	A549	lung:	n/a	n/a
25	CEBPD	chr19:39832800-39833044	HepG2	liver:	n/a	n/a
26	CEBPD	chr19:39832334-39833277	HepG2	liver:	n/a	n/a
27	CHD1	chr19:39832214-39832782	GM12878	blood:	n/a	n/a
28	CHD1	chr19:39831630-39834716	IMR90	lung:	n/a	chr19:39832940-39832950 chr19:39832779-39832789
29	CHD2	chr19:39832074-39833153	Hela-S3	cervix:	n/a	chr19:39832940-39832950 chr19:39832779-39832789
30	CHD2	chr19:39832343-39833129	GM12878	blood:	n/a	chr19:39832940-39832950 chr19:39832779-39832789
31	CHD2	chr19:39832515-39833027	HepG2	liver:	n/a	chr19:39832940-39832950 chr19:39832779-39832789
32	CHD2	chr19:39832341-39833059	H1-hESC	embryonic stem cell:	n/a	chr19:39832940-39832950 chr19:39832779-39832789
33	CHD2	chr19:39832358-39833085	K562	blood:	n/a	chr19:39832940-39832950 chr19:39832779-39832789
34	CREB1	chr19:39832395-39833541	A549	lung:	n/a	n/a
35	CREB1	chr19:39832262-39833319	K562	blood:	n/a	n/a
36	CREB1	chr19:39832804-39833167	ECC-1	luminal epithelium:	n/a	n/a
37	CREB1	chr19:39832466-39833300	H1-hESC	embryonic stem cell:	n/a	n/a
38	CREB1	chr19:39832430-39833242	H1-hESC	embryonic stem cell:	n/a	n/a
39	CREB1	chr19:39832008-39833292	GM12878	blood:	n/a	n/a
40	CREB1	chr19:39832281-39833236	K562	blood:	n/a	n/a
41	CREB1	chr19:39832084-39833374	HepG2	liver:	n/a	n/a
42	CREB1	chr19:39832398-39833245	A549	lung:	n/a	n/a
43	CREB1	chr19:39832227-39833269	HepG2	liver:	n/a	n/a
44	CTCF	chr19:39832497-39832831	Lung_OC	lung:	n/a	chr19:39832707-39832725 chr19:39832709-39832722
45	CTCF	chr19:39831481-39833225	SK-N-SH	brain:	n/a	chr19:39832861-39832874 chr19:39832707-39832725 chr19:39832709-39832722
46	CTCF	chr19:39832568-39832820	GM10266	blood:	n/a	chr19:39832707-39832725 chr19:39832709-39832722
47	CTCF	chr19:39832600-39832750	Caco-2	colon:	n/a	chr19:39832707-39832725 chr19:39832709-39832722
48	CTCF	chr19:39832600-39832750	AG04450	lung:	n/a	chr19:39832707-39832725 chr19:39832709-39832722
49	CTCF	chr19:39832600-39832750	AoAF	blood vessel:	n/a	chr19:39832707-39832725 chr19:39832709-39832722
50	CTCF	chr19:39832502-39832843	GM19240	blood:	n/a	chr19:39832707-39832725 chr19:39832709-39832722

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:39832795-39832845	HEK293	kidney:	embryo
2	chr19:39833609-39833659	HCF	heart:	n/a
3	chr19:39833609-39833659	HepG2	liver:	n/a
4	chr19:39832795-39832845	HL-60	blood:	n/a
5	chr19:39833609-39833659	HPAEpiC	pulmonary alveolar:	n/a
6	chr19:39833510-39833560	HPAEpiC	pulmonary alveolar:	n/a
7	chr19:39832561-39832611	HCM	heart:	n/a
8	chr19:39833601-39833651	BJ	skin:	n/a
9	chr19:39833601-39833651	HCM	heart:	n/a
10	chr19:39833601-39833651	IMR90	lung:	fetal
11	chr19:39833601-39833651	HL-60	blood:	n/a
12	chr19:39832795-39832845	U87	brain:	n/a
13	chr19:39832795-39832845	HMEC	breast:	n/a
14	chr19:39833609-39833659	SK-N-SH_RA	brain:	n/a
15	chr19:39832561-39832611	HMEC	breast:	n/a
16	chr19:39833510-39833560	K562	blood:	n/a
17	chr19:39832561-39832611	Hela-S3	cervix:	n/a
18	chr19:39833601-39833651	GM12891	blood:	n/a
19	chr19:39833601-39833651	NT2-D1	testis:	n/a
20	chr19:39832561-39832611	NH-A	brain:	n/a
21	chr19:39832795-39832845	BE2_C	brain:	n/a
22	chr19:39832561-39832611	ECC-1	luminal epithelium:	n/a
23	chr19:39833510-39833560	HUVEC	blood vessel:	n/a
24	chr19:39833510-39833560	SK-N-SH	brain:	n/a
25	chr19:39833510-39833560	IMR90	lung:	fetal
26	chr19:39832795-39832845	AoSMC	blood vessel:	n/a
27	chr19:39833601-39833651	Hepatocyte	liver:	n/a
28	chr19:39833510-39833560	HepG2	liver:	n/a
29	chr19:39833609-39833659	SK-N-SH	brain:	n/a
30	chr19:39833510-39833560	SKMC	muscle:	n/a
31	chr19:39832795-39832845	GM12892	blood:	n/a
32	chr19:39832795-39832845	HCF	heart:	n/a
33	chr19:39832561-39832611	AoSMC	blood vessel:	n/a
34	chr19:39833609-39833659	PrEC	prostate:	n/a
35	chr19:39832795-39832845	GM12891	blood:	n/a
36	chr19:39833609-39833659	BE2_C	brain:	n/a
37	chr19:39833510-39833560	Caco-2	colon:	n/a
38	chr19:39832561-39832611	BJ	skin:	n/a
39	chr19:39833510-39833560	HNPCEpiC	eye:	n/a
40	chr19:39833609-39833659	NT2-D1	testis:	n/a
41	chr19:39833510-39833560	RPTEC	kidney:	n/a
42	chr19:39833609-39833659	NHBE	bronchial:	n/a
43	chr19:39833609-39833659	ProgFib	skin:	n/a
44	chr19:39833609-39833659	LNCaP	prostate:	n/a
45	chr19:39832561-39832611	HPAEpiC	pulmonary alveolar:	n/a
46	chr19:39832561-39832611	AG09319	gingival:	n/a
47	chr19:39832561-39832611	HEEpiC	esophagus:	n/a
48	chr19:39833609-39833659	AG10803	skin:	n/a
49	chr19:39832795-39832845	ProgFib	skin:	n/a
50	chr19:39832561-39832611	PFSK-1	brain:	n/a

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39614928..39617634-chr19:39831535..39834253,2	K562	blood:
2	chr19:39831462..39833819-chr19:39895852..39900331,6	MCF-7	breast:
3	chr19:39831059..39833135-chr19:39987962..39989581,2	MCF-7	breast:
4	chr19:39832142..39833135-chr2:131850385..131851088,2	HCT-116	colon:
5	chr19:39832081..39833059-chr19:39903132..39904192,3	K562	blood:
6	chr19:39753838..39756399-chr19:39831359..39832891,2	K562	blood:
7	chr19:39419877..39422700-chr19:39830755..39832445,2	MCF-7	breast:
8	chr19:39830669..39836861-chr19:39895802..39900887,6	MCF-7	breast:
9	chr19:39811372..39812878-chr19:39831167..39833886,2	MCF-7	breast:
10	chr19:39832237..39832969-chr19:40023143..40024117,2	K562	blood:
11	chr19:39833451..39835275-chr19:39876704..39878338,2	MCF-7	breast:
12	chr19:39809900..39813494-chr19:39831059..39834441,3	MCF-7	breast:
13	chr19:39828912..39834348-chr19:39896525..39904623,14	K562	blood:
14	chr19:39826340..39829691-chr19:39831267..39834495,5	K562	blood:
15	chr19:39727142..39728696-chr19:39832975..39834941,2	K562	blood:
16	chr19:39829936..39834375-chr19:39901478..39904741,5	MCF-7	breast:
17	chr19:39832183..39834517-chr19:39925160..39926923,2	MCF-7	breast:
18	chr19:39831465..39834764-chr19:39935836..39937934,3	K562	blood:
19	chr19:39833435..39835021-chr19:39840872..39844768,3	MCF-7	breast:
20	chr19:39834302..39836305-chr19:39857341..39859446,2	K562	blood:
21	chr19:39830889..39835466-chr19:39836647..39841099,6	MCF-7	breast:
22	chr19:39832709..39837239-chr19:39925090..39928725,4	K562	blood:
23	chr17:58602101..58603865-chr19:39833012..39834515,2	MCF-7	breast:
24	chr19:39832559..39836457-chr19:39880660..39884768,5	MCF-7	breast:
25	chr19:39831269..39834563-chr19:39900586..39904953,4	MCF-7	breast:
26	chr19:39831356..39834540-chr19:39880141..39881911,4	MCF-7	breast:
27	chr19:39672992..39674987-chr19:39833706..39835660,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000269246	TF binding region
GMFG	TF binding region
SAMD4B	TF binding region
ENSG00000269246	CpG island
GMFG	CpG island
SAMD4B	CpG island
ENSG00000104835	chromatin interactions
ENSG00000130669	chromatin interactions
ENSG00000063322	chromatin interactions
ENSG00000062725	chromatin interactions
ENSG00000179134	chromatin interactions
ENSG00000128626	chromatin interactions
ENSG00000259349	chromatin interactions
ENSG00000090932	chromatin interactions
ENSG00000272311	chromatin interactions
ENSG00000130755	chromatin interactions
ENSG00000128016	chromatin interactions
ENSG00000268510	chromatin interactions
ENSG00000266559	chromatin interactions
ENSG00000268262	chromatin interactions
ENSG00000090924	chromatin interactions
ENSG00000006712	chromatin interactions
ENSG00000105193	chromatin interactions
ENSG00000196235	chromatin interactions
ENSG00000152102	chromatin interactions
ENSG00000176401	chromatin interactions

Extended variants
information (count: 55 )
Associated
traits (count: 66 )

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	rs141901838	chr19:39832307-39832308	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
2	rs555269453	chr19:39832342-39832343	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
3	rs576796107	chr19:39832424-39832425	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
4	rs374562897	chr19:39832442-39832443	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
5	rs145538566	chr19:39832473-39832474	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
6	rs532048240	chr19:39832474-39832475	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
7	rs30460	chr19:39832513-39832514	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	mRNA abundance
8	rs147726821	chr19:39832575-39832576	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
9	rs115320392	chr19:39832582-39832583	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
10	rs377281139	chr19:39832681-39832682	Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
11	rs34245256	chr19:39832712-39832713	Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
12	rs368757572	chr19:39832713-39832714	Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
13	rs376745388	chr19:39832718-39832719	Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
14	rs547997215	chr19:39832745-39832746	Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
15	rs7253156	chr19:39832785-39832786	Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
16	rs186075029	chr19:39832909-39832910	Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
17	rs76452398	chr19:39832910-39832911	Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
18	rs552234773	chr19:39832986-39832987	Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
19	rs571577842	chr19:39833026-39833027	Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
20	rs191075835	chr19:39833057-39833058	Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
21	rs554213030	chr19:39833210-39833211	Weak transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
22	rs30459	chr19:39833253-39833254	Weak transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
23	rs371034293	chr19:39833418-39833419	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
24	rs536780679	chr19:39833440-39833441	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
25	rs188520477	chr19:39833518-39833519	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
26	rs140447088	chr19:39833575-39833576	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
27	rs191344738	chr19:39833606-39833607	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
28	rs545253627	chr19:39833643-39833644	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
29	rs576723786	chr19:39833649-39833650	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
30	rs374641553	chr19:39833651-39833652	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
31	rs75106656	chr19:39833653-39833654	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
32	rs62119676	chr19:39833662-39833663	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs574178928	chr19:39833672-39833673	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
34	rs541552219	chr19:39833679-39833680	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
35	rs563139744	chr19:39833681-39833682	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
36	rs530628037	chr19:39833744-39833745	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
37	rs375017261	chr19:39833748-39833749	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
38	rs182847462	chr19:39833854-39833855	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
39	rs550634667	chr19:39833895-39833896	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
40	rs532504390	chr19:39833900-39833901	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
41	rs73546055	chr19:39834007-39834008	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs12980512	chr19:39834092-39834093	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
43	rs12980513	chr19:39834093-39834094	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
44	rs576001681	chr19:39834095-39834096	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
45	rs142694049	chr19:39834108-39834109	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
46	rs536743215	chr19:39834109-39834110	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
47	rs367576180	chr19:39834110-39834111	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
48	rs548743489	chr19:39834131-39834132	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
49	rs187227835	chr19:39834161-39834162	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
50	rs145992229	chr19:39834185-39834186	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
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
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39831200-39832400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr19:39831400-39832400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
3	chr19:39831400-39832400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr19:39831400-39832400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
5	chr19:39831400-39832400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
6	chr19:39831400-39832400	Flanking Active TSS	Placenta	Placenta
7	chr19:39831400-39832600	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr19:39831400-39832600	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr19:39831400-39832600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
10	chr19:39831400-39832600	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr19:39831400-39832600	Flanking Active TSS	Liver	Liver
12	chr19:39831400-39832600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
13	chr19:39831400-39832600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr19:39831400-39832600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr19:39831400-39834200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr19:39831400-39834400	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr19:39831600-39832400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
18	chr19:39831600-39832400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr19:39831600-39832400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
20	chr19:39831600-39832600	Flanking Active TSS	Primary B cells from peripheral blood	blood
21	chr19:39831600-39832600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
22	chr19:39831600-39832600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr19:39831600-39832600	Bivalent/Poised TSS	HepG2	liver
24	chr19:39831600-39833600	Active TSS	Thymus	Thymus
25	chr19:39831600-39834000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr19:39831600-39834000	Active TSS	NHLF	lung
27	chr19:39831600-39834400	Active TSS	H9 Cell Line	embryonic stem cell
28	chr19:39831800-39832600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr19:39831800-39832600	Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr19:39831800-39832600	Active TSS	Fetal Kidney	kidney
31	chr19:39831800-39832600	Active TSS	Fetal Lung	lung
32	chr19:39831800-39832600	Active TSS	Placenta Amnion	Placenta Amnion
33	chr19:39831800-39832600	Active TSS	NHDF-Ad	bronchial
34	chr19:39831800-39833600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr19:39831800-39833600	Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr19:39831800-39833600	Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr19:39831800-39833600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr19:39831800-39833600	Active TSS	Monocytes-CD14+_RO01746	blood
39	chr19:39831800-39833800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr19:39831800-39833800	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr19:39831800-39833800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr19:39831800-39833800	Active TSS	Aorta	Aorta
43	chr19:39831800-39833800	Active TSS	Fetal Intestine Large	intestine
44	chr19:39831800-39833800	Active TSS	Small Intestine	intestine
45	chr19:39831800-39833800	Active TSS	Dnd41	blood
46	chr19:39831800-39833800	Active TSS	GM12878-XiMat	blood
47	chr19:39831800-39833800	Active TSS	HSMMtube	muscle
48	chr19:39831800-39833800	Active TSS	K562	blood
49	chr19:39831800-39833800	Active TSS	NH-A	brain
50	chr19:39831800-39833800	Active TSS	NHEK	skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links