Variant report

Variant	rs12281400
Chromosome Location	chr11:65474443-65474444
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65472457..65475716-chr11:65659486..65662901,4	K562	blood:
2	chr11:65471574..65474478-chr11:65475750..65478986,4	K562	blood:
3	chr11:65474018..65475851-chr11:65483589..65486489,2	K562	blood:
4	chr11:65472429..65485450-chr11:65615794..65629774,38	K562	blood:
5	chr11:65474304..65478106-chr11:65478345..65481541,4	MCF-7	breast:
6	chr11:65473150..65475653-chr11:65659973..65662538,2	K562	blood:
7	chr11:65473736..65477583-chr11:65477783..65481532,7	MCF-7	breast:
8	chr11:65470573..65472493-chr11:65474244..65477241,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000172732	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000172977	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10896027	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11227248	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11227249	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11227250	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11227261	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227283	0.84[ASN][1000 genomes]
rs11227284	0.81[ASN][1000 genomes]
rs11227288	0.81[ASN][1000 genomes]
rs1193851	0.87[ASN][1000 genomes]
rs1205259	0.87[ASN][1000 genomes]
rs1784223	0.86[ASN][1000 genomes]
rs1787034	0.86[ASN][1000 genomes]
rs2448490	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34007146	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34462081	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4930156	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4930304	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs578056	0.81[ASN][1000 genomes]
rs7944860	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	999 gene(s)	inside rSNPs	diseases
2	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
3	nsv897723	chr11:65294830-65481166	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv897735	chr11:65335705-65481166	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription 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 miRNA target site	98 gene(s)	inside rSNPs	diseases
5	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
6	nsv897747	chr11:65353906-65481166	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
7	nsv897755	chr11:65405300-65481166	Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
8	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12281400	RNASEH2C	cis	Artery Tibial	GTEx

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65468200-65478600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr11:65473800-65475000	Enhancers	Fetal Muscle Leg	muscle
3	chr11:65473800-65475000	Enhancers	Fetal Thymus	thymus
4	chr11:65474200-65474600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr11:65474200-65476800	Weak transcription	K562	blood
6	chr11:65474200-65477200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr11:65474200-65478000	Weak transcription	Dnd41	blood
8	chr11:65474200-65478400	Weak transcription	Colonic Mucosa	Colon
9	chr11:65474200-65478400	Weak transcription	Fetal Brain Female	brain
10	chr11:65474200-65478400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr11:65474200-65478600	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr11:65474200-65478600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr11:65474200-65478600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr11:65474200-65478600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr11:65474200-65478600	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr11:65474200-65478600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr11:65474200-65478600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr11:65474200-65478600	Weak transcription	Adipose Nuclei	Adipose
19	chr11:65474200-65478600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr11:65474200-65478600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr11:65474200-65478600	Weak transcription	GM12878-XiMat	blood
22	chr11:65474400-65477800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:65474400-65478400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr11:65474400-65478600	Weak transcription	Primary B cells from cord blood	blood
25	chr11:65474400-65478600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr11:65474400-65478600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr11:65474400-65478600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr11:65474400-65478600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr11:65474400-65478600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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