Variant report

Variant	rs59729747
Chromosome Location	chr8:103361254-103361255
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:5)
LncRNA
region (count:0)
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	chr8:103361152-103361352	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:103360633..103362889-chr8:103424164..103427139,2	K562	blood:
2	chr8:103320295..103322347-chr8:103361195..103362875,2	MCF-7	breast:
3	chr20:23366791..23369771-chr8:103359875..103362469,2	MCF-7	breast:
4	chr8:103359154..103362889-chr8:103423110..103427139,3	K562	blood:
5	chr8:103360708..103362849-chr8:103423567..103425278,2	MCF-7	breast:

No data

Variant related genes	Relation type
UBR5	TF binding region
ENSG00000104517	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs13262662	0.83[AFR][1000 genomes]
rs36178006	0.85[AFR][1000 genomes]
rs4483125	0.85[AFR][1000 genomes]
rs59572423	0.85[AFR][1000 genomes]
rs60265889	1.00[AFR][1000 genomes]
rs60276445	1.00[AFR][1000 genomes]
rs60794914	1.00[AFR][1000 genomes]
rs61424257	1.00[AFR][1000 genomes]
rs73697220	0.81[AFR][1000 genomes]
rs73698724	1.00[AFR][1000 genomes]
rs73698727	1.00[AFR][1000 genomes]
rs73698738	0.90[AFR][1000 genomes]
rs73698788	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1021459	chr8:103163436-103401754	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv539701	chr8:103163436-103401754	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv1025935	chr8:103199207-103468322	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv1028890	chr8:103207922-103401754	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv528486	chr8:103279922-103373304	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv891244	chr8:103309862-103483466	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv831412	chr8:103337196-103536397	Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 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	chr8:103330000-103375200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:103335400-103361400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
3	chr8:103335400-103363400	Strong transcription	Primary B cells from peripheral blood	blood
4	chr8:103335400-103363800	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr8:103335400-103373200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr8:103335400-103373400	Strong transcription	Fetal Thymus	thymus
7	chr8:103335400-103373600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr8:103335800-103370200	Strong transcription	Dnd41	blood
9	chr8:103337000-103380000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr8:103340800-103379400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:103344200-103361400	Weak transcription	Right Atrium	heart
12	chr8:103344200-103373400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:103344600-103364800	Weak transcription	Fetal Heart	heart
14	chr8:103345400-103364800	Weak transcription	Stomach Mucosa	stomach
15	chr8:103345400-103365000	Weak transcription	Gastric	stomach
16	chr8:103345400-103372000	Weak transcription	Small Intestine	intestine
17	chr8:103345400-103379800	Weak transcription	Aorta	Aorta
18	chr8:103346400-103373200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:103346600-103363400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr8:103347400-103373400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:103348000-103373400	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr8:103348200-103364200	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr8:103348600-103364000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:103349600-103364200	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr8:103350000-103362400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr8:103350000-103366400	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr8:103351200-103361400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:103353800-103373000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:103354000-103364800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:103354000-103378400	Weak transcription	Fetal Brain Male	brain
31	chr8:103354200-103363600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr8:103354600-103363000	Weak transcription	Brain Substantia Nigra	brain
33	chr8:103355000-103361400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr8:103355000-103362400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:103355000-103364800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr8:103355000-103371000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr8:103355000-103379400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr8:103355000-103379400	Weak transcription	Psoas Muscle	Psoas
39	chr8:103355000-103379600	Weak transcription	Right Ventricle	heart
40	chr8:103355000-103380600	Weak transcription	Brain Angular Gyrus	brain
41	chr8:103355400-103364800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:103355400-103373600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:103356400-103362400	Strong transcription	Fetal Stomach	stomach
44	chr8:103356600-103366400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:103356600-103373200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr8:103356800-103363800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr8:103357000-103362800	Strong transcription	Liver	Liver
48	chr8:103357000-103363600	Strong transcription	Osteobl	bone
49	chr8:103357000-103370000	Strong transcription	Fetal Intestine Large	intestine
50	chr8:103357200-103362600	Strong transcription	HepG2	liver

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