Variant report

Variant	rs11739941
Chromosome Location	chr5:179123194-179123195
allele	C/G
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179101962..179108661-chr5:179122383..179128408,19	MCF-7	breast:
2	chr5:179094562..179097080-chr5:179122833..179124461,2	MCF-7	breast:
3	chr5:179114860..179117850-chr5:179121484..179123259,2	K562	blood:
4	chr5:179122850..179128148-chr5:179246584..179249342,5	K562	blood:
5	chr5:179121868..179123530-chr5:179124381..179126535,2	K562	blood:
6	chr5:179050688..179053100-chr5:179121935..179123833,2	K562	blood:
7	chr5:179101603..179111989-chr5:179122927..179129527,32	MCF-7	breast:
8	chr5:179122873..179128898-chr5:179155888..179164921,20	K562	blood:
9	chr5:179100989..179111182-chr5:179122076..179128627,19	K562	blood:
10	chr5:179121400..179128828-chr5:179157984..179161377,21	K562	blood:
11	chr5:179049048..179052854-chr5:179122221..179127718,16	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000127022	Chromatin interaction
ENSG00000204659	Chromatin interaction
ENSG00000225051	Chromatin interaction
ENSG00000161021	Chromatin interaction
ENSG00000161011	Chromatin interaction
ENSG00000169045	Chromatin interaction

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

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

rs_ID	r²[population]
rs10066644	0.89[ASN][1000 genomes]
rs11249653	0.84[ASN][1000 genomes]
rs11249654	0.85[ASN][1000 genomes]
rs11747219	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12188590	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13159123	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13180726	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13361866	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17079630	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62404341	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7700649	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[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	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
2	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
3	nsv830560	chr5:179039212-179175758	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
4	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
5	nsv969028	chr5:179117224-179123617	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179106600-179124200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr5:179106600-179124800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr5:179107600-179123200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr5:179107600-179123200	Weak transcription	Fetal Thymus	thymus
5	chr5:179107600-179123400	Weak transcription	Fetal Intestine Small	intestine
6	chr5:179108600-179123600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr5:179118400-179125000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:179120800-179123800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr5:179121400-179123800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr5:179122000-179124200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:179122000-179124200	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr5:179122200-179123400	Weak transcription	Primary B cells from cord blood	blood
13	chr5:179122800-179123200	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr5:179123000-179123200	Enhancers	Pancreas	Pancrea
15	chr5:179123000-179123200	Enhancers	Psoas Muscle	Psoas
16	chr5:179123000-179123600	Enhancers	Fetal Muscle Leg	muscle
17	chr5:179123000-179123600	Enhancers	GM12878-XiMat	blood
18	chr5:179123000-179124400	Enhancers	K562	blood
19	chr5:179123000-179124400	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr5:179123000-179124600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr5:179123000-179124600	Enhancers	HepG2	liver

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