Variant report

Variant	rs549920806
Chromosome Location	chr19:56185446-56185447
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:56184849-56186152	HL-60	blood:	n/a	n/a
2	POLR2A	chr19:56184702-56185534	PANC-1	pancreas:	n/a	n/a
3	EP300	chr19:56185384-56185449	K562	blood:	n/a	n/a
4	CBX3	chr19:56184780-56185447	K562	blood:	n/a	chr19:56185123-56185134
5	ZBTB7A	chr19:56184796-56185884	K562	blood:	n/a	n/a
6	POLR2A	chr19:56184790-56185480	PANC-1	pancreas:	n/a	n/a
7	ZBTB7A	chr19:56184893-56185982	K562	blood:	n/a	n/a
8	MAZ	chr19:56184916-56185833	K562	blood:	n/a	chr19:56185192-56185202
9	TAL1	chr19:56185347-56185458	K562	blood:	n/a	n/a
10	POLR2A	chr19:56184841-56185473	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:56185417-56185467	HCPEpiC	choroid plexus:	n/a
2	chr19:56185417-56185467	Hepatocyte	liver:	n/a
3	chr19:56185417-56185467	SKMC	muscle:	n/a
4	chr19:56185417-56185467	HCM	heart:	n/a
5	chr19:56185417-56185467	ProgFib	skin:	n/a
6	chr19:56185417-56185467	NHDF-neo	bronchial:	n/a
7	chr19:56185417-56185467	RPTEC	kidney:	n/a
8	chr19:56185417-56185467	GM06990	blood:	n/a
9	chr19:56185417-56185467	Caco-2	colon:	n/a
10	chr19:56185417-56185467	GM12892	blood:	n/a
11	chr19:56185417-56185467	AG04449	skin:	fetal
12	chr19:56185417-56185467	LNCaP	prostate:	n/a
13	chr19:56185417-56185467	HMEC	breast:	n/a
14	chr19:56185417-56185467	T-47D	breast:	n/a
15	chr19:56185417-56185467	AG04450	lung:	fetal
16	chr19:56185417-56185467	MCF-7	breast:	n/a
17	chr19:56185417-56185467	AG09309	skin:	n/a
18	chr19:56185417-56185467	HPAEpiC	pulmonary alveolar:	n/a
19	chr19:56185417-56185467	HRCEpiC	kidney:	n/a
20	chr19:56185417-56185467	NH-A	brain:	n/a
21	chr19:56185417-56185467	GM19239	blood:	n/a
22	chr19:56185417-56185467	HIPEpiC	eye:	n/a
23	chr19:56185417-56185467	HNPCEpiC	eye:	n/a
24	chr19:56185417-56185467	A549	lung:	n/a
25	chr19:56185417-56185467	ovcar-3	ovarian:	n/a
26	chr19:56185417-56185467	HRE	kidney:	n/a
27	chr19:56185417-56185467	HAEpiC	amniotic membrane:	n/a
28	chr19:56185417-56185467	K562	blood:	n/a
29	chr19:56185417-56185467	AoSMC	blood vessel:	n/a
30	chr19:56185417-56185467	HCT-116	colon:	n/a
31	chr19:56185417-56185467	HUVEC	blood vessel:	n/a
32	chr19:56185417-56185467	NT2-D1	testis:	n/a
33	chr19:56185417-56185467	HepG2	liver:	n/a
34	chr19:56185417-56185467	AG09319	gingival:	n/a
35	chr19:56185417-56185467	SK-N-MC	brain:	n/a
36	chr19:56185417-56185467	PANC-1	pancreas:	n/a
37	chr19:56185417-56185467	NB4	blood:	n/a
38	chr19:56185417-56185467	AG10803	skin:	n/a
39	chr19:56185417-56185467	HRPEpiC	eye:	n/a
40	chr19:56185417-56185467	Jurkat	blood:	n/a
41	chr19:56185417-56185467	GM12891	blood:	n/a
42	chr19:56185417-56185467	PFSK-1	brain:	n/a
43	chr19:56185417-56185467	Hela-S3	cervix:	n/a
44	chr19:56185417-56185467	SK-N-SH	brain:	n/a
45	chr19:56185417-56185467	PrEC	prostate:	n/a
46	chr19:56185417-56185467	HEK293	kidney:	embryo
47	chr19:56185417-56185467	HCF	heart:	n/a
48	chr19:56185417-56185467	SK-N-SH_RA	brain:	n/a
49	chr19:56185417-56185467	BE2_C	brain:	n/a
50	chr19:56185417-56185467	NHBE	bronchial:	n/a

(count:5 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
EPN1	TF binding region
EPN1	CpG island
ENSG00000063244	Chromatin interaction
ENSG00000184900	Chromatin interaction
ENSG00000269859	Chromatin interaction
ENSG00000197483	Chromatin interaction
ENSG00000261221	Chromatin interaction
ENSG00000173581	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	chr19:56170200-56185800	Strong transcription	Fetal Stomach	stomach
2	chr19:56170400-56185600	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr19:56170400-56185800	Strong transcription	Fetal Brain Female	brain
4	chr19:56170800-56185800	Weak transcription	Psoas Muscle	Psoas
5	chr19:56170800-56186000	Weak transcription	Right Atrium	heart
6	chr19:56172600-56186000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr19:56175400-56185600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr19:56175800-56186000	Weak transcription	Fetal Kidney	kidney
9	chr19:56178000-56185800	Weak transcription	HSMMtube	muscle
10	chr19:56178600-56185800	Weak transcription	Fetal Brain Male	brain
11	chr19:56180200-56185600	Genic enhancers	Dnd41	blood
12	chr19:56181600-56185800	Genic enhancers	Liver	Liver
13	chr19:56182000-56185600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr19:56182000-56185600	Weak transcription	HSMM	muscle
15	chr19:56182000-56185800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr19:56182000-56185800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr19:56182000-56185800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr19:56182000-56185800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr19:56182000-56185800	Strong transcription	Fetal Intestine Large	intestine
20	chr19:56182000-56185800	Strong transcription	Fetal Intestine Small	intestine
21	chr19:56182000-56185800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr19:56182000-56185800	Weak transcription	Stomach Mucosa	stomach
23	chr19:56182000-56185800	Strong transcription	Thymus	Thymus
24	chr19:56182000-56185800	Weak transcription	HMEC	breast
25	chr19:56182000-56185800	Weak transcription	NHDF-Ad	bronchial
26	chr19:56182000-56186000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr19:56182000-56186000	Weak transcription	Left Ventricle	heart
28	chr19:56182200-56185600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr19:56182200-56185600	Genic enhancers	A549	lung
30	chr19:56182200-56185800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr19:56182200-56185800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr19:56182400-56185800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr19:56182400-56185800	Weak transcription	Brain Angular Gyrus	brain
34	chr19:56182400-56185800	Weak transcription	Colon Smooth Muscle	Colon
35	chr19:56182400-56185800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr19:56182400-56186200	Weak transcription	Aorta	Aorta
37	chr19:56182600-56185600	Weak transcription	Primary hematopoietic stem cells	blood
38	chr19:56182600-56185800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr19:56182600-56185800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr19:56182600-56185800	Weak transcription	Stomach Smooth Muscle	stomach
41	chr19:56183000-56186000	Weak transcription	Primary B cells from cord blood	blood
42	chr19:56183000-56186000	Weak transcription	Ovary	ovary
43	chr19:56183000-56186200	Weak transcription	Small Intestine	intestine
44	chr19:56183200-56185600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr19:56183200-56186000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr19:56183200-56186200	Weak transcription	Gastric	stomach
47	chr19:56183200-56186200	Weak transcription	Pancreas	Pancrea
48	chr19:56183400-56185600	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr19:56183400-56185800	Weak transcription	Right Ventricle	heart
50	chr19:56183600-56185600	Strong transcription	Placenta	Placenta

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