Variant report

Variant	rs11681409
Chromosome Location	chr2:48492344-48492345
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:48492137..48494411-chr2:48542775..48545328,2	K562	blood:
2	chr2:48492280..48493854-chr2:48539785..48541732,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10495951	0.85[CEU][hapmap];0.81[JPT][hapmap]
rs10495952	0.85[CEU][hapmap];0.81[JPT][hapmap]
rs11125164	0.92[CEU][hapmap]
rs11676036	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11679523	0.85[CEU][hapmap];0.81[JPT][hapmap]
rs11685861	0.81[JPT][hapmap]
rs11686007	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11687708	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11688481	0.85[CEU][hapmap];0.81[JPT][hapmap]
rs11690748	0.81[JPT][hapmap]
rs11690845	0.81[JPT][hapmap]
rs17037289	0.81[JPT][hapmap]
rs17037298	0.85[CEU][hapmap];0.81[JPT][hapmap]
rs17855177	0.81[JPT][hapmap]
rs4344965	0.81[JPT][hapmap]
rs55788229	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60815228	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6705802	0.81[JPT][hapmap]
rs6718068	0.81[JPT][hapmap]
rs6743757	0.86[JPT][hapmap]
rs72818477	1.00[ASN][1000 genomes]
rs72818478	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72818488	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72818491	0.81[AMR][1000 genomes]
rs72818494	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7562069	0.81[JPT][hapmap]
rs7576964	0.86[JPT][hapmap]
rs7577237	0.81[JPT][hapmap]
rs7606104	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv1005241	chr2:48413134-48493182	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2762552	chr2:48413146-48493182	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv457407	chr2:48414735-48493182	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv581774	chr2:48414735-48493182	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11681409	CCDC128	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48491200-48493200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:48491200-48494000	Enhancers	Primary hematopoietic stem cells	blood
3	chr2:48491400-48493400	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr2:48491600-48492400	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr2:48491800-48493000	Flanking Active TSS	K562	blood
6	chr2:48492000-48492400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:48492000-48493600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr2:48492200-48492400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:48492200-48492600	Enhancers	Primary neutrophils fromperipheralblood	blood

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