Variant report

Variant	rs4808767
Chromosome Location	chr19:18336863-18336864
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr19:18336672-18337036	HepG2	liver:	n/a	n/a
2	ZNF143	chr19:18336855-18336900	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr19:18336381-18337303	U87	brain:	n/a	n/a
4	POLR2A	chr19:18336381-18337297	U87	brain:	n/a	n/a
5	POLR2A	chr19:18336789-18336996	U87	brain:	n/a	n/a
6	POLR2A	chr19:18336608-18337171	HepG2	liver:	n/a	n/a
7	MAZ	chr19:18334872-18337410	IMR90	lung:	n/a	chr19:18336667-18336677
8	HDAC2	chr19:18336788-18337216	K562	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18334213..18336941-chr19:18433304..18435159,2	MCF-7	breast:
2	chr19:18270611..18272569-chr19:18336592..18338865,3	MCF-7	breast:
3	chr19:18334858..18337739-chr19:18526520..18530329,6	K562	blood:
4	chr19:18334911..18338218-chr19:18340999..18344328,5	MCF-7	breast:
5	chr19:18312530..18316975-chr19:18331566..18338113,9	K562	blood:
6	chr19:18334725..18337698-chr19:18389039..18394023,6	K562	blood:
7	chr19:18263543..18265261-chr19:18334680..18337167,2	MCF-7	breast:
8	chr19:18312530..18319182-chr19:18329520..18338113,19	K562	blood:
9	chr19:18336001..18338441-chr19:18431893..18435478,3	K562	blood:
10	chr19:18282901..18285514-chr19:18334924..18337003,2	K562	blood:
11	chr19:18332417..18336925-chr19:18388887..18394072,11	K562	blood:
12	chr19:18263953..18266175-chr19:18334676..18337393,3	K562	blood:
13	chr19:18331180..18333406-chr19:18334762..18337599,3	MCF-7	breast:

No data

Variant related genes	Relation type
PDE4C	TF binding region
ENSG00000105647	Chromatin interaction
ENSG00000130511	Chromatin interaction
ENSG00000130520	Chromatin interaction
ENSG00000130522	Chromatin interaction
ENSG00000268650	Chromatin interaction
ENSG00000105650	Chromatin interaction
ENSG00000267959	Chromatin interaction
ENSG00000105649	Chromatin interaction
ENSG00000268173	Chromatin interaction
ENSG00000216490	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1005338	0.81[AFR][1000 genomes]
rs1042050	0.80[AFR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12463335	0.80[AFR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13313731	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2011004	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2074973	0.84[AFR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4808763	0.84[AFR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4808764	0.84[AFR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7251661	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8101767	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055932	chr19:17923918-18369944	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv543923	chr19:17923918-18369944	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
3	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
4	esv1837595	chr19:18085428-18393682	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
5	nsv911245	chr19:18206681-18338101	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv833775	chr19:18213761-18390074	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv911248	chr19:18224729-18338101	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv911249	chr19:18224729-18375846	Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv911250	chr19:18224729-18376522	Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv911251	chr19:18224729-18422364	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
11	nsv911252	chr19:18234588-18338101	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
12	nsv911253	chr19:18240127-18418044	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
13	nsv916325	chr19:18244780-18534927	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
14	nsv911256	chr19:18255359-18338101	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
15	nsv911260	chr19:18288069-18386798	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
16	nsv911264	chr19:18309365-18369644	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
17	nsv470131	chr19:18326222-18389135	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18334600-18337200	Enhancers	Spleen	Spleen
2	chr19:18334800-18337000	Active TSS	H9 Cell Line	embryonic stem cell
3	chr19:18335000-18337200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:18335400-18337200	Bivalent Enhancer	Fetal Lung	lung
5	chr19:18335600-18337000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr19:18335600-18337000	Flanking Active TSS	HepG2	liver
7	chr19:18335600-18337200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr19:18335600-18337200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
9	chr19:18335600-18337400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr19:18335600-18337600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
11	chr19:18335800-18337000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:18335800-18337000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr19:18335800-18337000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
14	chr19:18335800-18337000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
15	chr19:18335800-18337000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
16	chr19:18335800-18337000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
17	chr19:18335800-18337000	Enhancers	Liver	Liver
18	chr19:18335800-18337000	Enhancers	Lung	lung
19	chr19:18335800-18337000	Bivalent Enhancer	Stomach Mucosa	stomach
20	chr19:18335800-18337000	Bivalent Enhancer	HUVEC	blood vessel
21	chr19:18335800-18337200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
22	chr19:18335800-18337200	Bivalent Enhancer	Primary B cells from cord blood	blood
23	chr19:18335800-18337200	Bivalent Enhancer	Fetal Brain Male	brain
24	chr19:18335800-18337800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr19:18335800-18337800	Enhancers	Pancreas	Pancrea
26	chr19:18335800-18339200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
27	chr19:18336000-18337000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr19:18336000-18337000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr19:18336000-18337000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
30	chr19:18336000-18337000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
31	chr19:18336000-18337000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr19:18336000-18337000	Bivalent Enhancer	Adipose Nuclei	Adipose
33	chr19:18336000-18337000	Weak transcription	Psoas Muscle	Psoas
34	chr19:18336000-18337000	Enhancers	A549	lung
35	chr19:18336000-18337000	Bivalent Enhancer	GM12878-XiMat	blood
36	chr19:18336000-18337200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
37	chr19:18336000-18337200	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr19:18336000-18337200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
39	chr19:18336000-18337200	Bivalent Enhancer	Esophagus	oesophagus
40	chr19:18336000-18337200	Bivalent Enhancer	Fetal Intestine Large	intestine
41	chr19:18336000-18337200	Bivalent Enhancer	Placenta	Placenta
42	chr19:18336000-18337200	Bivalent Enhancer	Osteobl	bone
43	chr19:18336000-18337400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
44	chr19:18336000-18337400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr19:18336200-18337000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr19:18336200-18337000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
47	chr19:18336200-18337000	Enhancers	K562	blood
48	chr19:18336200-18337200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr19:18336200-18337200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
50	chr19:18336200-18337200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood

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