Variant report

Variant	rs12469744
Chromosome Location	chr2:47479487-47479488
allele	A/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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:47426189..47428111-chr2:47478013..47479523,2	MCF-7	breast:
2	chr2:47471172..47473317-chr2:47476209..47479649,3	MCF-7	breast:
3	chr2:47401347..47405305-chr2:47474858..47480763,8	MCF-7	breast:
4	chr2:47395420..47397137-chr2:47479319..47481186,2	K562	blood:
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	chr2:47478646..47481044-chr2:47483765..47486319,2	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	chr2:47409469..47411339-chr2:47477135..47479722,2	MCF-7	breast:
12	chr2:47477685..47479668-chr2:47480909..47483654,2	MCF-7	breast:

No data

No data

No data

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

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

rs_ID	r²[population]
rs11125131	0.92[ASN][1000 genomes]
rs13002829	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13024653	0.92[ASN][1000 genomes]
rs34638626	0.81[ASN][1000 genomes]
rs35012648	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35077201	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35079138	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35416942	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35987300	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67382123	0.92[ASN][1000 genomes]
rs67575769	0.92[ASN][1000 genomes]
rs71423957	0.92[ASN][1000 genomes]
rs728958	0.82[CEU][hapmap]
rs7576517	0.85[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	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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47476600-47483800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr2:47476800-47483600	Weak transcription	A549	lung
3	chr2:47477000-47483400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:47477000-47483400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:47477000-47491400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr2:47477200-47491200	Weak transcription	Brain Anterior Caudate	brain
7	chr2:47477400-47479600	Weak transcription	Fetal Intestine Small	intestine
8	chr2:47477800-47480000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr2:47478000-47483600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:47478200-47483600	Weak transcription	NH-A	brain
11	chr2:47478600-47483800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:47478800-47479600	Weak transcription	K562	blood
13	chr2:47478800-47479800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr2:47478800-47487400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:47478800-47496400	Weak transcription	Hela-S3	cervix
16	chr2:47479400-47481000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:47479400-47481400	Enhancers	Fetal Intestine Large	intestine

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dbSNP/dbVar ID: rs12345 /nsv7879
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