Variant report

Variant	rs73349806
Chromosome Location	chr5:177556615-177556616
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:177556346-177556684	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr5:177556405-177556636	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr5:177555802-177556704	GM12878	blood:	n/a	n/a
4	POLR2A	chr5:177554970-177556782	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr5:177556420-177556701	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr5:177556437-177556661	GM12878	blood:	n/a	n/a
7	POLR2A	chr5:177555818-177556690	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:177556499..177561085-chr5:177629309..177633856,7	K562	blood:
2	chr5:177556214..177559808-chr5:177575521..177582645,10	K562	blood:
3	chr5:177556514..177559685-chr5:177630098..177633052,4	K562	blood:
4	chr5:177554586..177557949-chr5:177561501..177564806,6	K562	blood:
5	chr5:177556060..177559207-chr5:177571980..177574313,5	K562	blood:
6	chr5:177556060..177559089-chr5:177572421..177574313,3	K562	blood:
7	chr5:177556550..177559096-chr5:177579482..177582645,4	K562	blood:
8	chr5:177555803..177560183-chr5:177628551..177633825,8	MCF-7	breast:

No data

Variant related genes	Relation type
RMND5B	TF binding region
ENSG00000145916	Chromatin interaction
ENSG00000145912	Chromatin interaction
ENSG00000197451	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11951603	1.00[AMR][1000 genomes]
rs57559233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57947175	1.00[AMR][1000 genomes]
rs59922179	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60772567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61577981	1.00[AMR][1000 genomes]
rs73338853	1.00[AMR][1000 genomes]
rs73348139	1.00[AMR][1000 genomes]
rs73348150	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348160	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348162	0.87[AFR][1000 genomes]
rs73348167	0.87[AFR][1000 genomes]
rs73348177	1.00[AMR][1000 genomes]
rs73348182	1.00[AMR][1000 genomes]
rs73348185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348199	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73349889	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73351244	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030383	chr5:177310325-177571254	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
3	nsv1021198	chr5:177386267-177611648	Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
5	nsv462567	chr5:177505021-177572927	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS 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	23 gene(s)	inside rSNPs	diseases
6	nsv471058	chr5:177505021-177572927	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv600392	chr5:177505021-177572927	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv1019404	chr5:177507080-177859089	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	126 gene(s)	inside rSNPs	diseases
9	nsv883190	chr5:177532201-177620189	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
10	nsv883192	chr5:177535370-177564346	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	nsv600394	chr5:177549491-177608195	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	esv3424416	chr5:177556571-177559319	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177541800-177557200	Weak transcription	Right Atrium	heart
2	chr5:177548600-177557000	Weak transcription	Fetal Intestine Large	intestine
3	chr5:177548800-177557000	Weak transcription	Fetal Intestine Small	intestine
4	chr5:177548800-177557200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr5:177549400-177557200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr5:177549400-177558200	Weak transcription	Fetal Heart	heart
7	chr5:177549600-177557000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:177549600-177557200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr5:177549600-177557400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr5:177550200-177557000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:177550400-177557200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr5:177550600-177557200	Weak transcription	Psoas Muscle	Psoas
13	chr5:177550800-177556800	Weak transcription	Primary B cells from cord blood	blood
14	chr5:177551400-177556800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr5:177551400-177557400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr5:177551600-177557200	Weak transcription	Right Ventricle	heart
17	chr5:177551800-177557000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr5:177551800-177557200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr5:177551800-177557400	Weak transcription	Spleen	Spleen
20	chr5:177552000-177557000	Weak transcription	Primary B cells from peripheral blood	blood
21	chr5:177552000-177557200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr5:177552000-177557400	Weak transcription	Stomach Mucosa	stomach
23	chr5:177552600-177556800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:177552800-177556800	Weak transcription	Fetal Stomach	stomach
25	chr5:177552800-177557400	Weak transcription	Esophagus	oesophagus
26	chr5:177554000-177557200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:177554200-177557200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:177554400-177556800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:177554400-177557000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:177554400-177557400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:177554600-177557000	Weak transcription	Adipose Nuclei	Adipose
32	chr5:177554600-177557000	Enhancers	K562	blood
33	chr5:177554600-177557200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:177554600-177557200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:177554600-177557200	Weak transcription	HUVEC	blood vessel
36	chr5:177554600-177557400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr5:177554600-177557400	Weak transcription	Left Ventricle	heart
38	chr5:177554800-177557200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr5:177554800-177557200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr5:177554800-177557200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr5:177554800-177557400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr5:177555200-177557000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr5:177555400-177557000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr5:177555800-177557000	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr5:177555800-177557000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:177555800-177557400	Enhancers	Lung	lung
47	chr5:177556000-177556800	Enhancers	H1 Cell Line	embryonic stem cell
48	chr5:177556000-177557000	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr5:177556000-177557000	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr5:177556000-177557200	Enhancers	HUES48 Cell Line	embryonic stem cell

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