Variant report

Variant	rs7548840
Chromosome Location	chr1:225968154-225968155
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:225963814..225970754-chr1:225996230..226002908,14	MCF-7	breast:
2	chr1:225966591..225969033-chr1:226010866..226013102,3	MCF-7	breast:
3	chr1:225966963..225971678-chr1:225973611..225976928,7	K562	blood:
4	chr1:225966034..225968187-chr1:226022147..226024459,2	MCF-7	breast:
5	chr1:225615356..225617168-chr1:225967552..225969284,2	K562	blood:
6	chr1:225964211..225968767-chr1:226248453..226252378,4	K562	blood:
7	chr1:225966585..225968935-chr1:226308385..226311332,2	MCF-7	breast:
8	chr1:225963461..225967975-chr1:225968057..225975345,14	MCF-7	breast:
9	chr1:225967558..225969741-chr1:225995095..225998302,3	MCF-7	breast:
10	chr1:225964533..225968744-chr1:226068261..226071590,3	MCF-7	breast:
11	chr1:225963673..225968224-chr1:226032543..226034938,4	MCF-7	breast:
12	chr1:225960600..225963224-chr1:225967142..225968691,2	K562	blood:
13	chr1:225963904..225970275-chr1:225994893..226001084,15	K562	blood:
14	chr1:225964257..225969087-chr1:226030786..226035881,7	K562	blood:
15	chr1:225965000..225971731-chr1:226051573..226055609,6	K562	blood:
16	chr1:225648477..225651119-chr1:225966156..225969061,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143815	Chromatin interaction
ENSG00000272562	Chromatin interaction
ENSG00000143742	Chromatin interaction
ENSG00000196187	Chromatin interaction
ENSG00000242861	Chromatin interaction
ENSG00000143819	Chromatin interaction
ENSG00000163041	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16845286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6703444	1.00[AMR][1000 genomes]
rs74148701	1.00[AMR][1000 genomes]
rs74150504	1.00[AMR][1000 genomes]
rs74150505	1.00[AMR][1000 genomes]
rs74150508	1.00[AMR][1000 genomes]
rs74150518	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832736	chr1:225815717-225968619	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer 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 target site	40 gene(s)	inside rSNPs	diseases
3	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225965800-225968200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:225966200-225969000	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr1:225966200-225973400	Weak transcription	Esophagus	oesophagus
4	chr1:225966800-225968200	Flanking Active TSS	Brain Germinal Matrix	brain
5	chr1:225966800-225968200	Enhancers	Spleen	Spleen
6	chr1:225966800-225968800	Genic enhancers	Primary B cells from peripheral blood	blood
7	chr1:225966800-225969800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr1:225966800-225970400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:225966800-225972600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:225966800-225978600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:225967000-225968200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
12	chr1:225967000-225968200	Enhancers	Fetal Muscle Trunk	muscle
13	chr1:225967000-225968200	Enhancers	Gastric	stomach
14	chr1:225967000-225968200	Enhancers	Lung	lung
15	chr1:225967000-225968200	Enhancers	Pancreas	Pancrea
16	chr1:225967000-225968600	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
17	chr1:225967000-225968600	Enhancers	Fetal Brain Male	brain
18	chr1:225967000-225969000	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr1:225967000-225970400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:225967000-225971800	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr1:225967000-225972200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:225967000-225973600	Weak transcription	HSMMtube	muscle
23	chr1:225967200-225968200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:225967200-225968200	Enhancers	H9 Cell Line	embryonic stem cell
25	chr1:225967200-225968200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:225967200-225968200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr1:225967200-225968200	Enhancers	Aorta	Aorta
28	chr1:225967200-225968200	Enhancers	Colonic Mucosa	Colon
29	chr1:225967200-225968200	Genic enhancers	Fetal Muscle Leg	muscle
30	chr1:225967200-225968200	Genic enhancers	Fetal Stomach	stomach
31	chr1:225967200-225968200	Genic enhancers	Fetal Thymus	thymus
32	chr1:225967200-225968200	Enhancers	Left Ventricle	heart
33	chr1:225967200-225968200	Enhancers	Right Ventricle	heart
34	chr1:225967200-225968400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:225967200-225968400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
36	chr1:225967200-225968400	Genic enhancers	Fetal Intestine Small	intestine
37	chr1:225967200-225968800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:225967200-225968800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr1:225967200-225968800	Enhancers	Thymus	Thymus
40	chr1:225967200-225969600	Enhancers	Liver	Liver
41	chr1:225967200-225969800	Weak transcription	Fetal Intestine Large	intestine
42	chr1:225967200-225970000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr1:225967200-225970200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:225967200-225970600	Weak transcription	HSMM	muscle
45	chr1:225967200-225970800	Enhancers	Adipose Nuclei	Adipose
46	chr1:225967200-225971800	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr1:225967200-225972200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:225967200-225972600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr1:225967200-225978400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr1:225967400-225968200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood

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