Variant report

Variant	rs73547904
Chromosome Location	chr19:39860011-39860012
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:39850716-39886400	PANC-1	pancreas:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39859941..39863633-chr19:39878903..39882994,5	MCF-7	breast:
2	chr19:39843827..39847459-chr19:39858082..39862141,4	MCF-7	breast:
3	chr19:39859164..39862677-chr19:39900156..39904174,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MED29-1	chr19:39859793-39860086	NONHSAT066284

No data

Variant related genes	Relation type
SAMD4B	TF binding region
ENSG00000090924	Chromatin interaction
ENSG00000006712	Chromatin interaction
ENSG00000063322	Chromatin interaction
ENSG00000266559	Chromatin interaction
ENSG00000179134	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs56222183	1.00[AMR][1000 genomes]
rs57536536	1.00[AMR][1000 genomes]
rs58949744	1.00[AMR][1000 genomes]
rs60577443	1.00[AMR][1000 genomes]
rs60840261	1.00[AMR][1000 genomes]
rs61112725	1.00[AMR][1000 genomes]
rs61124676	1.00[AMR][1000 genomes]
rs61213828	1.00[AMR][1000 genomes]
rs61595075	1.00[AMR][1000 genomes]
rs61730567	1.00[AMR][1000 genomes]
rs7250234	1.00[AMR][1000 genomes]
rs7250913	1.00[AMR][1000 genomes]
rs73544098	1.00[AMR][1000 genomes]
rs73546015	1.00[AMR][1000 genomes]
rs73546026	1.00[AMR][1000 genomes]
rs73546080	1.00[AMR][1000 genomes]
rs73547972	1.00[AMR][1000 genomes]
rs73553808	1.00[AMR][1000 genomes]
rs73553810	1.00[AMR][1000 genomes]
rs73553812	1.00[AMR][1000 genomes]
rs73553822	1.00[AMR][1000 genomes]
rs73553830	1.00[AMR][1000 genomes]
rs73553832	1.00[AMR][1000 genomes]
rs73553833	1.00[AMR][1000 genomes]
rs73553835	1.00[AMR][1000 genomes]
rs73553853	1.00[AMR][1000 genomes]
rs8101134	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911679	chr19:39735106-39924129	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
2	nsv1058514	chr19:39744112-39902580	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	nsv911680	chr19:39792460-39924129	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	194 gene(s)	inside rSNPs	diseases
4	esv10629	chr19:39811570-39886212	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv870133	chr19:39822160-39938468	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
6	nsv911682	chr19:39847132-39914748	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS 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 miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
7	nsv911683	chr19:39847132-39924129	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	185 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	chr19:39834800-39880000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:39835800-39880200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr19:39835800-39880200	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr19:39836200-39880400	Strong transcription	Primary T cells from cord blood	blood
5	chr19:39836400-39862600	Strong transcription	Duodenum Mucosa	Duodenum
6	chr19:39836600-39864000	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr19:39836600-39880400	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr19:39836600-39880400	Strong transcription	Fetal Brain Female	brain
9	chr19:39837400-39880000	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr19:39837600-39863600	Strong transcription	Fetal Intestine Small	intestine
11	chr19:39838000-39880000	Strong transcription	Brain Germinal Matrix	brain
12	chr19:39838200-39862600	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr19:39838600-39880400	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr19:39838800-39880200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:39839200-39879200	Strong transcription	Dnd41	blood
16	chr19:39841600-39880000	Strong transcription	Fetal Intestine Large	intestine
17	chr19:39842000-39864200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr19:39842000-39880000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr19:39842200-39880200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr19:39842200-39880400	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr19:39842400-39862400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr19:39842400-39880400	Strong transcription	Thymus	Thymus
23	chr19:39842600-39880400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr19:39847400-39864000	Strong transcription	Primary hematopoietic stem cells	blood
25	chr19:39848200-39880000	Weak transcription	Fetal Heart	heart
26	chr19:39848400-39864200	Strong transcription	K562	blood
27	chr19:39849000-39860200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr19:39850400-39881000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr19:39851400-39861000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr19:39851600-39862800	Weak transcription	Small Intestine	intestine
31	chr19:39851600-39866400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr19:39851800-39860200	Weak transcription	Gastric	stomach
33	chr19:39851800-39860800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr19:39851800-39867600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr19:39852800-39880400	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr19:39853400-39860200	Weak transcription	Hela-S3	cervix
37	chr19:39853600-39863000	Strong transcription	A549	lung
38	chr19:39853800-39862800	Weak transcription	Right Atrium	heart
39	chr19:39854000-39860400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr19:39854000-39866200	Weak transcription	Stomach Mucosa	stomach
41	chr19:39854000-39876000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr19:39854200-39860200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr19:39854600-39862400	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr19:39854800-39860200	Weak transcription	Aorta	Aorta
45	chr19:39854800-39861600	Strong transcription	Placenta	Placenta
46	chr19:39854800-39862200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr19:39855000-39861200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr19:39855000-39862400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr19:39855000-39865600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr19:39855200-39862600	Strong transcription	HSMM	muscle

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