Variant report

Variant	rs561832127
Chromosome Location	chr19:56185823-56185824
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr19:56185625-56187879	IMR90	lung:	n/a	n/a
2	POLR2A	chr19:56184849-56186152	HL-60	blood:	n/a	n/a
3	POLR2A	chr19:56185595-56187287	GM12878	blood:	n/a	n/a
4	POLR2A	chr19:56185604-56186939	GM12892	blood:	n/a	n/a
5	POLR2A	chr19:56185589-56187693	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr19:56185658-56187111	Hela-S3	cervix:	n/a	n/a
7	TCF12	chr19:56185766-56187007	A549	lung:	n/a	n/a
8	HCFC1	chr19:56185639-56187350	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr19:56185740-56185890	HUVEC	blood vessel:	n/a	n/a
10	SP1	chr19:56185489-56186102	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr19:56185652-56187179	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr19:56185613-56187158	GM12891	blood:	n/a	n/a
13	POLR2A	chr19:56185739-56187205	A549	lung:	n/a	n/a
14	POLR2A	chr19:56185507-56187227	GM12878	blood:	n/a	n/a
15	POLR2A	chr19:56185664-56187793	PANC-1	pancreas:	n/a	n/a
16	POLR2A	chr19:56185656-56186978	Hela-S3	cervix:	n/a	n/a
17	GABPA	chr19:56185814-56187449	A549	lung:	n/a	chr19:56186319-56186328 chr19:56186566-56186573 chr19:56186868-56186877
18	POLR2A	chr19:56185622-56187312	K562	blood:	n/a	n/a
19	POLR2A	chr19:56185621-56187334	HepG2	liver:	n/a	n/a
20	POLR2A	chr19:56185523-56187118	K562	blood:	n/a	n/a
21	POLR2A	chr19:56185716-56186997	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr19:56185645-56187033	SK-N-MC	brain:	n/a	n/a
23	ZBTB7A	chr19:56184796-56185884	K562	blood:	n/a	n/a
24	POLR2A	chr19:56185570-56187206	GM12892	blood:	n/a	n/a
25	POLR2A	chr19:56185699-56186763	HepG2	liver:	n/a	n/a
26	POLR2A	chr19:56185761-56187676	GM12891	blood:	n/a	n/a
27	POLR2A	chr19:56185541-56187012	GM12892	blood:	n/a	n/a
28	MXI1	chr19:56185791-56188335	SK-N-SH	brain:	n/a	n/a
29	REST	chr19:56185572-56186047	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr19:56185621-56186813	K562	blood:	n/a	n/a
31	POLR2A	chr19:56185615-56185906	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr19:56185745-56187135	GM19193	blood:	n/a	n/a
33	POLR2A	chr19:56185517-56186989	K562	blood:	n/a	n/a
34	POLR2A	chr19:56185652-56187081	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chr19:56185610-56187159	PFSK-1	brain:	n/a	n/a
36	ZBTB7A	chr19:56184893-56185982	K562	blood:	n/a	n/a
37	MAZ	chr19:56184916-56185833	K562	blood:	n/a	chr19:56185192-56185202
38	POLR2A	chr19:56185617-56185864	H1-hESC	embryonic stem cell:	n/a	n/a
39	BCL3	chr19:56185716-56186845	A549	lung:	n/a	chr19:56186662-56186671 chr19:56186569-56186578 chr19:56186659-56186668 chr19:56186810-56186819 chr19:56186433-56186442 chr19:56186182-56186195 chr19:56186420-56186433 chr19:56186475-56186484 chr19:56186189-56186202 chr19:56186657-56186670
40	POLR2A	chr19:56185687-56186865	K562	blood:	n/a	n/a
41	POLR2A	chr19:56185740-56186093	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:56164666..56171824-chr19:56183341..56192911,16	MCF-7	breast:
2	chr19:56185642..56190165-chr19:56193908..56196750,4	MCF-7	breast:
3	chr19:56185115..56186636-chr21:46236479..46238156,2	MCF-7	breast:
4	chr19:55986321..55989143-chr19:56184299..56186966,2	K562	blood:
5	chr19:56114907..56116947-chr19:56184542..56187154,2	K562	blood:
6	chr19:56158129..56161096-chr19:56185326..56187791,3	MCF-7	breast:

Variant related genes	Relation type
EPN1	TF binding region
ENSG00000063244	Chromatin interaction
ENSG00000197483	Chromatin interaction
ENSG00000211571	Chromatin interaction
ENSG00000184900	Chromatin interaction
ENSG00000269859	Chromatin interaction
ENSG00000173581	Chromatin interaction
ENSG00000261221	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912487	chr19:55977909-56215184	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv912494	chr19:56026072-56215184	Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	nsv912498	chr19:56041848-56215184	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
4	nsv912501	chr19:56093365-56215184	Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv428026	chr19:56130849-56423514	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	82 gene(s)	inside rSNPs	diseases
6	nsv833882	chr19:56158633-56326564	Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
7	nsv1061024	chr19:56167101-56217359	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	esv3406564	chr19:56184365-56186913	Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	esv3337861	chr19:56185190-56186188	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv522559	chr19:56185250-56190815	Strong transcription Flanking Active TSS Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56170800-56186000	Weak transcription	Right Atrium	heart
2	chr19:56172600-56186000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr19:56175800-56186000	Weak transcription	Fetal Kidney	kidney
4	chr19:56182000-56186000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr19:56182000-56186000	Weak transcription	Left Ventricle	heart
6	chr19:56182400-56186200	Weak transcription	Aorta	Aorta
7	chr19:56183000-56186000	Weak transcription	Primary B cells from cord blood	blood
8	chr19:56183000-56186000	Weak transcription	Ovary	ovary
9	chr19:56183000-56186200	Weak transcription	Small Intestine	intestine
10	chr19:56183200-56186000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:56183200-56186200	Weak transcription	Gastric	stomach
12	chr19:56183200-56186200	Weak transcription	Pancreas	Pancrea
13	chr19:56184800-56186000	Genic enhancers	Primary T cells fromperipheralblood	blood
14	chr19:56184800-56186000	Strong transcription	Lung	lung
15	chr19:56185000-56186000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr19:56185000-56186000	Genic enhancers	Primary B cells from peripheral blood	blood
17	chr19:56185000-56186000	Enhancers	Fetal Heart	heart
18	chr19:56185000-56186000	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr19:56185000-56186800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr19:56185200-56186000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
21	chr19:56185200-56186000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr19:56185200-56186000	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr19:56185200-56186000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
24	chr19:56185200-56186000	Transcr. at gene 5' and 3'	NHLF	lung
25	chr19:56185200-56187600	Active TSS	H9 Cell Line	embryonic stem cell
26	chr19:56185200-56187800	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr19:56185400-56186000	Enhancers	Fetal Thymus	thymus
28	chr19:56185400-56186000	Weak transcription	GM12878-XiMat	blood
29	chr19:56185400-56187400	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr19:56185400-56187400	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr19:56185400-56187400	Active TSS	K562	blood
32	chr19:56185400-56188000	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr19:56185400-56188000	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr19:56185600-56186000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr19:56185600-56186000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr19:56185600-56186000	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
37	chr19:56185600-56186000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
38	chr19:56185600-56186000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr19:56185600-56186000	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr19:56185600-56186000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr19:56185600-56186000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr19:56185600-56186000	Genic enhancers	Colonic Mucosa	Colon
43	chr19:56185600-56186000	Enhancers	Fetal Lung	lung
44	chr19:56185600-56186000	Genic enhancers	Placenta	Placenta
45	chr19:56185600-56186000	Transcr. at gene 5' and 3'	A549	lung
46	chr19:56185600-56186000	Flanking Active TSS	Dnd41	blood
47	chr19:56185600-56186200	Transcr. at gene 5' and 3'	Cortex derived primary cultured neurospheres	brain
48	chr19:56185600-56186200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr19:56185600-56186200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr19:56185600-56186200	Flanking Active TSS	Hela-S3	cervix

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