Variant report

Variant	rs13424194
Chromosome Location	chr2:47478465-47478466
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:47477055..47479211-chr2:47498989..47500882,2	MCF-7	breast:
2	chr2:47426189..47428111-chr2:47478013..47479523,2	MCF-7	breast:
3	chr2:47471172..47473317-chr2:47476209..47479649,3	MCF-7	breast:
4	chr2:47401347..47405305-chr2:47474858..47480763,8	MCF-7	breast:
5	chr2:47418320..47420689-chr2:47477088..47480602,4	MCF-7	breast:
6	chr2:47400916..47405681-chr2:47469986..47480951,19	K562	blood:
7	chr2:47478076..47480290-chr2:47491113..47492985,2	K562	blood:
8	chr2:47441944..47444316-chr2:47476312..47479303,2	MCF-7	breast:
9	chr2:47476493..47480049-chr2:47496667..47500826,6	MCF-7	breast:
10	chr2:47400516..47406880-chr2:47471949..47486822,24	K562	blood:
11	chr2:47450507..47453723-chr2:47476153..47479003,3	MCF-7	breast:
12	chr2:47465412..47469681-chr2:47474773..47478680,4	MCF-7	breast:
13	chr2:47409469..47411339-chr2:47477135..47479722,2	MCF-7	breast:
14	chr2:47477685..47479668-chr2:47480909..47483654,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000226087	Chromatin interaction
ENSG00000143933	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10169583	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10175425	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10210030	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12329350	0.87[AMR][1000 genomes]
rs13424419	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17558224	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55741238	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56218686	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56239993	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56406340	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6736764	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6749044	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6751819	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs931640	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS 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 miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv457385	chr2:47468331-47552277	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv581755	chr2:47468331-47552277	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47475800-47478600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:47475800-47478800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:47476000-47479400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:47476600-47478600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:47476600-47483800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr2:47476800-47483600	Weak transcription	A549	lung
7	chr2:47477000-47483400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:47477000-47483400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:47477000-47491400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr2:47477200-47491200	Weak transcription	Brain Anterior Caudate	brain
11	chr2:47477400-47479600	Weak transcription	Fetal Intestine Small	intestine
12	chr2:47477600-47478800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:47477600-47478800	Enhancers	K562	blood
14	chr2:47477800-47478600	Bivalent Enhancer	HepG2	liver
15	chr2:47477800-47480000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr2:47478000-47483600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr2:47478200-47478800	Enhancers	Hela-S3	cervix
18	chr2:47478200-47479400	Weak transcription	Fetal Intestine Large	intestine
19	chr2:47478200-47483600	Weak transcription	NH-A	brain
20	chr2:47478400-47478800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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