Variant report

Variant	rs34093838
Chromosome Location	chr1:222764378-222764379
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:222764229-222764399	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr1:222764246-222764430	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:222763603..222766024-chr1:222777146..222778835,2	K562	blood:
2	chr1:222762024..222764722-chr1:222816738..222818394,2	MCF-7	breast:
3	chr1:222762853..222764726-chr1:222816205..222818798,3	MCF-7	breast:
4	chr1:222761959..222766700-chr1:222790061..222794365,7	MCF-7	breast:
5	chr1:222762075..222764721-chr1:222883311..222887470,5	K562	blood:
6	chr1:222760074..222764679-chr1:222790714..222794830,7	K562	blood:
7	chr1:222760324..222764721-chr1:222884429..222887789,6	K562	blood:
8	chr1:222761567..222764879-chr1:222790132..222793494,4	MCF-7	breast:
9	chr1:222759001..222761767-chr1:222763501..222765317,2	MCF-7	breast:
10	chr1:222760723..222765796-chr1:222790714..222795393,9	K562	blood:

No data

Variant related genes	Relation type
TAF1A	TF binding region
ENSG00000186063	Chromatin interaction
ENSG00000154305	Chromatin interaction
ENSG00000162819	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10495195	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17464254	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17464836	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2936032	0.83[EUR][1000 genomes]
rs3008642	0.83[EUR][1000 genomes]
rs34853495	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66463396	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67870673	0.83[EUR][1000 genomes]
rs67991082	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72738206	0.84[EUR][1000 genomes]
rs72738208	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873203	chr1:222332906-222775000	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv873205	chr1:222718718-222923351	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222761800-222764600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:222763600-222764400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:222763800-222764400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:222764000-222764400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr1:222764000-222764400	Enhancers	Primary B cells from cord blood	blood
6	chr1:222764000-222764400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:222764000-222764400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:222764000-222764400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr1:222764000-222764400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:222764000-222764400	Enhancers	Fetal Intestine Large	intestine
11	chr1:222764000-222764400	Enhancers	Left Ventricle	heart
12	chr1:222764000-222764400	Enhancers	Lung	lung
13	chr1:222764000-222764600	Enhancers	Stomach Mucosa	stomach
14	chr1:222764000-222765200	Weak transcription	NHDF-Ad	bronchial
15	chr1:222764000-222766400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:222764000-222766400	Weak transcription	Ovary	ovary
17	chr1:222764000-222767800	Weak transcription	Gastric	stomach
18	chr1:222764000-222768200	Weak transcription	Fetal Kidney	kidney
19	chr1:222764000-222773600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:222764200-222764400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr1:222764200-222764400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:222764200-222764400	Enhancers	Primary T cells fromperipheralblood	blood
23	chr1:222764200-222764400	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr1:222764200-222764400	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr1:222764200-222764600	Enhancers	Liver	Liver
26	chr1:222764200-222764600	Enhancers	Brain Angular Gyrus	brain
27	chr1:222764200-222764600	Active TSS	Brain Germinal Matrix	brain
28	chr1:222764200-222764600	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr1:222764200-222764600	Enhancers	Dnd41	blood
30	chr1:222764200-222764600	Enhancers	HepG2	liver
31	chr1:222764200-222765200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:222764200-222765400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr1:222764200-222765400	Weak transcription	HSMM	muscle
34	chr1:222764200-222765400	Weak transcription	NH-A	brain
35	chr1:222764200-222765400	Weak transcription	Osteobl	bone
36	chr1:222764200-222765600	Enhancers	K562	blood
37	chr1:222764200-222769800	Weak transcription	Fetal Heart	heart

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