Variant report

Variant	esv3340381
Chromosome Location	chr19:19005752-19008350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:464)
CpG islands
(count:611)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:464 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr19:19005712-19006058	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr19:19006317-19006569	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr19:19005895-19005920	K562	blood:	n/a	n/a
4	BHLHE40	chr19:19005587-19006209	HepG2	liver:	n/a	chr19:19005768-19005784
5	CCNT2	chr19:19005812-19007125	K562	blood:	n/a	n/a
6	CEBPB	chr19:19006021-19006121	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD1	chr19:19006016-19006221	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD2	chr19:19005954-19006058	H1-hESC	embryonic stem cell:	n/a	n/a
9	CREB1	chr19:19006841-19007095	A549	lung:	n/a	n/a
10	CTCF	chr19:19006300-19006450	GM12874	blood:	n/a	n/a
11	CTCF	chr19:19005900-19006050	AG04449	skin:	n/a	n/a
12	CTCF	chr19:19005910-19006094	A549	lung:	n/a	n/a
13	CTCF	chr19:19005860-19006010	HBMEC	blood vessel:	n/a	n/a
14	CTCF	chr19:19005740-19006179	MCF-7	breast:	n/a	n/a
15	CTCF	chr19:19005820-19005970	HCT-116	colon:	n/a	n/a
16	CTCF	chr19:19005860-19006010	GM06990	blood:	n/a	n/a
17	CTCF	chr19:19007380-19007530	HFF	foreskin:	n/a	n/a
18	CTCF	chr19:19005900-19006050	NHDF-neo	bronchial:	n/a	n/a
19	CTCF	chr19:19005900-19006050	GM12871	blood:	n/a	n/a
20	CTCF	chr19:19005323-19007033	SK-N-SH	brain:	n/a	chr19:19006274-19006284
21	CTCF	chr19:19005800-19005950	BE2_C	brain:	n/a	n/a
22	CTCF	chr19:19006300-19006450	GM12864	blood:	n/a	n/a
23	CTCF	chr19:19006395-19006496	HepG2	liver:	n/a	n/a
24	CTCF	chr19:19006407-19006473	ProgFib	skin:	n/a	n/a
25	CTCF	chr19:19005860-19006010	GM12874	blood:	n/a	n/a
26	CTCF	chr19:19006327-19006494	GM12892	blood:	n/a	n/a
27	CTCF	chr19:19005851-19006058	GM13977	blood:	n/a	n/a
28	CTCF	chr19:19005760-19005910	HFF-Myc	foreskin:	n/a	n/a
29	CTCF	chr19:19007440-19007590	HCPEpiC	choroid plexus:	n/a	chr19:19007533-19007540
30	CTCF	chr19:19006360-19006510	GM12872	blood:	n/a	n/a
31	CTCF	chr19:19005840-19005990	MCF-7	breast:	n/a	n/a
32	CTCF	chr19:19006332-19006508	Gliobla	brain:	n/a	n/a
33	CTCF	chr19:19007540-19007690	HPF	lung:	n/a	n/a
34	CTCF	chr19:19005816-19006130	T-47D	breast:	n/a	n/a
35	CTCF	chr19:19006340-19006490	AG09309	skin:	n/a	n/a
36	CTCF	chr19:19006360-19006510	K562	blood:	n/a	n/a
37	CTCF	chr19:19005840-19005990	GM12873	blood:	n/a	n/a
38	CTCF	chr19:19005900-19006050	AoAF	blood vessel:	n/a	n/a
39	CTCF	chr19:19006340-19006490	NHEK	skin:	n/a	n/a
40	CTCF	chr19:19005880-19006030	GM12878	blood:	n/a	n/a
41	CTCF	chr19:19005747-19006152	K562	blood:	n/a	n/a
42	CTCF	chr19:19006360-19006510	NHDF-neo	bronchial:	n/a	n/a
43	CTCF	chr19:19005860-19006010	WERI-Rb-1	eye:	n/a	n/a
44	CTCF	chr19:19005900-19006050	HPF	lung:	n/a	n/a
45	CTCF	chr19:19006340-19006490	GM12871	blood:	n/a	n/a
46	CTCF	chr19:19005920-19006070	GM12870	blood:	n/a	n/a
47	CTCF	chr19:19005801-19006137	ProgFib	skin:	n/a	n/a
48	CTCF	chr19:19005860-19006010	HAc	cerebellar:	n/a	n/a
49	CTCF	chr19:19005793-19006069	SK-N-SH_RA	brain:	n/a	n/a
50	CTCF	chr19:19005860-19006010	HRE	kidney:	n/a	n/a

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:19007311-19007361	HEEpiC	esophagus:	n/a
2	chr19:19007311-19007361	HEEpiC	esophagus:	n/a
3	chr19:19007505-19007555	HEEpiC	esophagus:	n/a
4	chr19:19007647-19007697	NHDF-neo	bronchial:	n/a
5	chr19:19007647-19007697	ovcar-3	ovarian:	n/a
6	chr19:19007324-19007374	PFSK-1	brain:	n/a
7	chr19:19007505-19007555	HEK293	kidney:	embryo
8	chr19:19007647-19007697	MCF-7	breast:	n/a
9	chr19:19006439-19006489	A549	lung:	n/a
10	chr19:19007545-19007595	ovcar-3	ovarian:	n/a
11	chr19:19005959-19006009	NB4	blood:	n/a
12	chr19:19007324-19007374	Hela-S3	cervix:	n/a
13	chr19:19007074-19007124	HCT-116	colon:	n/a
14	chr19:19007311-19007361	NHBE	bronchial:	n/a
15	chr19:19007505-19007555	Jurkat	blood:	n/a
16	chr19:19006439-19006489	GM12891	blood:	n/a
17	chr19:19007324-19007374	GM12891	blood:	n/a
18	chr19:19006439-19006489	SAEC	small airway:	n/a
19	chr19:19005959-19006009	CMK	blood:	n/a
20	chr19:19007505-19007555	AG04449	skin:	fetal
21	chr19:19006582-19006632	ProgFib	skin:	n/a
22	chr19:19007324-19007374	AG04449	skin:	fetal
23	chr19:19006582-19006632	HCT-116	colon:	n/a
24	chr19:19007545-19007595	HRCEpiC	kidney:	n/a
25	chr19:19007545-19007595	HCF	heart:	n/a
26	chr19:19006582-19006632	MCF10A-Er-Src	breast:	n/a
27	chr19:19005959-19006009	Caco-2	colon:	n/a
28	chr19:19007505-19007555	GM06990	blood:	n/a
29	chr19:19007074-19007124	RPTEC	kidney:	n/a
30	chr19:19006582-19006632	BE2_C	brain:	n/a
31	chr19:19006582-19006632	Jurkat	blood:	n/a
32	chr19:19007074-19007124	HAEpiC	amniotic membrane:	n/a
33	chr19:19005959-19006009	T-47D	breast:	n/a
34	chr19:19007324-19007374	A549	lung:	n/a
35	chr19:19007074-19007124	AG10803	skin:	n/a
36	chr19:19007324-19007374	PrEC	prostate:	n/a
37	chr19:19005959-19006009	AG04450	lung:	fetal
38	chr19:19007311-19007361	NH-A	brain:	n/a
39	chr19:19007074-19007124	MCF-7	breast:	n/a
40	chr19:19007647-19007697	SKMC	muscle:	n/a
41	chr19:19006562-19006612	ovcar-3	ovarian:	n/a
42	chr19:19007324-19007374	HRCEpiC	kidney:	n/a
43	chr19:19007074-19007124	ovcar-3	ovarian:	n/a
44	chr19:19007074-19007124	PFSK-1	brain:	n/a
45	chr19:19007505-19007555	HCT-116	colon:	n/a
46	chr19:19007647-19007697	AG04450	lung:	fetal
47	chr19:19006582-19006632	HUVEC	blood vessel:	n/a
48	chr19:19007074-19007124	NT2-D1	testis:	n/a
49	chr19:19007505-19007555	CMK	blood:	n/a
50	chr19:19007311-19007361	Hepatocyte	liver:	n/a

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18992536..18993055-chr19:19005219..19006075,2	MCF-7	breast:
2	chr19:19005974..19006784-chr19:19097290..19098023,2	MCF-7	breast:
3	chr19:19006401..19008657-chr19:19231143..19233883,2	K562	blood:
4	chr19:19005482..19006695-chr19:19097291..19098316,11	MCF-7	breast:
5	chr19:19005584..19006102-chr20:49411028..49412002,2	MCF-7	breast:
6	chr19:19005632..19006817-chr19:19097231..19098010,3	K562	blood:
7	chr19:19005608..19006831-chr19:19051981..19052661,4	K562	blood:
8	chr19:18976234..18978409-chr19:19004531..19006846,2	MCF-7	breast:
9	chr19:19006298..19008038-chr19:19034237..19036261,2	K562	blood:
10	chr19:18941134..18944715-chr19:19004445..19006890,3	MCF-7	breast:
11	chr19:19005129..19007826-chr19:19028734..19032982,4	MCF-7	breast:
12	chr19:19005951..19006543-chr19:19051691..19052235,2	MCF-7	breast:
13	chr19:18990686..18992579-chr19:19006938..19009413,2	K562	blood:
14	chr19:19005501..19008972-chr19:19028688..19032169,4	K562	blood:
15	chr19:19004982..19008022-chr19:19042434..19045091,3	K562	blood:
16	chr19:19008286..19009845-chr19:19027692..19029739,2	MCF-7	breast:
17	chr19:19005183..19007690-chr19:19050687..19053273,2	MCF-7	breast:
18	chr19:18958001..18958531-chr19:19005510..19006064,2	MCF-7	breast:
19	chr19:18958703..18961204-chr19:19005451..19007447,2	MCF-7	breast:

No data

Variant related genes	Relation type
GDF1	TF binding region
CERS1	TF binding region
GDF1	CpG island
CERS1	CpG island
ENSG00000005007	chromatin interactions
ENSG00000105671	chromatin interactions
ENSG00000064545	chromatin interactions
ENSG00000051128	chromatin interactions
ENSG00000105669	chromatin interactions
ENSG00000124243	chromatin interactions
ENSG00000269019	chromatin interactions
ENSG00000269694	chromatin interactions

Extended variants
information (count: 64 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536167088	chr19:19005949-19005950	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs555747519	chr19:19005960-19005961	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs201307618	chr19:19005971-19005972	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs113661269	chr19:19006013-19006014	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs575226758	chr19:19006023-19006024	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs375824391	chr19:19006039-19006040	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs543863855	chr19:19006127-19006128	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs544463482	chr19:19006193-19006194	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs183991779	chr19:19006198-19006199	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs577330267	chr19:19006202-19006203	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs539896549	chr19:19006243-19006244	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs559939257	chr19:19006271-19006272	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs573722027	chr19:19006274-19006275	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs376304243	chr19:19006323-19006324	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs542942608	chr19:19006347-19006348	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs562617735	chr19:19006364-19006365	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs576080223	chr19:19006389-19006390	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs550982791	chr19:19006412-19006413	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs146100393	chr19:19006455-19006456	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs73526949	chr19:19006459-19006460	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs113536478	chr19:19006648-19006649	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs3746263	chr19:19006666-19006667	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs113264972	chr19:19006999-19007000	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs112241365	chr19:19007201-19007202	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs535653841	chr19:19007218-19007219	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs150108430	chr19:19007238-19007239	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs549699565	chr19:19007268-19007269	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs557019773	chr19:19007352-19007353	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs368325717	chr19:19007389-19007390	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs181317402	chr19:19007400-19007401	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs538492302	chr19:19007412-19007413	Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs557336436	chr19:19007492-19007493	Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs577191604	chr19:19007568-19007569	Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs533656853	chr19:19007585-19007586	Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs60774903	chr19:19007599-19007600	Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs573808973	chr19:19007608-19007609	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs140070442	chr19:19007621-19007622	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs562840419	chr19:19007732-19007733	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs34047779	chr19:19007733-19007734	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs576267000	chr19:19007736-19007737	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs71168779	chr19:19007740-19007741	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs545275914	chr19:19007742-19007743	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs398034177	chr19:19007743-19007744	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs372012807	chr19:19007780-19007781	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs57783514	chr19:19007801-19007802	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs557834198	chr19:19007842-19007843	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs533328083	chr19:19007849-19007850	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs538872236	chr19:19007864-19007865	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs547148548	chr19:19007871-19007872	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs544824724	chr19:19007924-19007925	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Follicular lymphoma	20505157	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	20179077	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Lung cancer	17297452	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Chordoma	18071362	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21364760	CNVD
Mycobacterial infection	18421352	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute monocytic leukemia	16498392	CNVD
Lung cancer	18438408	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Liver carcinoma	19366792	CNVD
Colorectal cancer	19455253	CNVD
Lujan-Fryns syndrom	21521776	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Cancer	17440070	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Ependymoma	20639864	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:439 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18981800-19005800	Weak transcription	Right Atrium	heart
2	chr19:19004200-19005800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr19:19004200-19006200	Enhancers	Fetal Heart	heart
4	chr19:19004400-19005800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
5	chr19:19004400-19005800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
6	chr19:19004400-19006000	Flanking Active TSS	Brain Germinal Matrix	brain
7	chr19:19004600-19005800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr19:19004600-19005800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:19004600-19005800	Bivalent Enhancer	Fetal Lung	lung
10	chr19:19004600-19006200	Bivalent Enhancer	Placenta	Placenta
11	chr19:19004600-19006200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
12	chr19:19004600-19006600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr19:19004800-19007200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr19:19004800-19007800	Active TSS	Brain Substantia Nigra	brain
15	chr19:19004800-19008400	Active TSS	Brain Cingulate Gyrus	brain
16	chr19:19005000-19005800	Active TSS	Brain Hippocampus Middle	brain
17	chr19:19005000-19006600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr19:19005000-19007200	Active TSS	Brain Anterior Caudate	brain
19	chr19:19005000-19007400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr19:19005000-19007400	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr19:19005000-19007600	Active TSS	Brain Angular Gyrus	brain
22	chr19:19005200-19005800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr19:19005200-19005800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr19:19005200-19005800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
25	chr19:19005200-19005800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr19:19005200-19005800	Bivalent Enhancer	Stomach Mucosa	stomach
27	chr19:19005200-19005800	Bivalent Enhancer	NH-A	brain
28	chr19:19005200-19006000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr19:19005200-19006000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr19:19005200-19006200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr19:19005200-19006400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
32	chr19:19005200-19006400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
33	chr19:19005200-19006400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
34	chr19:19005200-19006400	Bivalent Enhancer	Fetal Thymus	thymus
35	chr19:19005200-19006600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
36	chr19:19005200-19006600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr19:19005200-19006600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr19:19005200-19006600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr19:19005400-19005800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr19:19005400-19005800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
41	chr19:19005400-19005800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr19:19005400-19005800	Bivalent Enhancer	Adipose Nuclei	Adipose
43	chr19:19005400-19005800	Bivalent Enhancer	Fetal Intestine Large	intestine
44	chr19:19005400-19005800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
45	chr19:19005400-19005800	Bivalent Enhancer	HMEC	breast
46	chr19:19005400-19005800	Bivalent Enhancer	NHLF	lung
47	chr19:19005400-19006000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
48	chr19:19005400-19006000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
49	chr19:19005400-19006000	Flanking Active TSS	Fetal Brain Male	brain
50	chr19:19005400-19006000	Bivalent Enhancer	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links