Variant report

Variant	rs12300102
Chromosome Location	chr12:4672181-4672182
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:4671422..4673318-chr12:4674512..4676464,2	K562	blood:
2	chr12:4671378..4673735-chr15:65588243..65590469,2	K562	blood:

Variant related genes	Relation type
ENSG00000199568	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11063265	1.00[MEX][hapmap]
rs1990312	1.00[MEX][hapmap]
rs6489553	1.00[AMR][1000 genomes]
rs7301885	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1038332	chr12:4627992-4689300	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv541362	chr12:4627992-4689300	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4668400-4673800	Weak transcription	GM12878-XiMat	blood
2	chr12:4670200-4679600	Weak transcription	Hela-S3	cervix
3	chr12:4670400-4675200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr12:4670400-4679200	Weak transcription	A549	lung
5	chr12:4670800-4672200	Enhancers	Fetal Thymus	thymus
6	chr12:4671000-4672200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr12:4671200-4672600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:4671600-4672200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:4671600-4673000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:4671600-4676200	Enhancers	Primary B cells from peripheral blood	blood
11	chr12:4671800-4672200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
12	chr12:4671800-4672200	Enhancers	Fetal Heart	heart
13	chr12:4671800-4672400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
14	chr12:4671800-4672600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:4671800-4672600	Weak transcription	Dnd41	blood
16	chr12:4671800-4673600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr12:4671800-4674400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:4671800-4675000	Weak transcription	Lung	lung
19	chr12:4671800-4676400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr12:4671800-4680400	Weak transcription	HUVEC	blood vessel
21	chr12:4671800-4683400	Weak transcription	Thymus	Thymus
22	chr12:4672000-4672400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:4672000-4672600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
24	chr12:4672000-4672600	Enhancers	Brain Hippocampus Middle	brain
25	chr12:4672000-4672600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr12:4672000-4672800	Enhancers	Brain Substantia Nigra	brain
27	chr12:4672000-4673600	Weak transcription	Primary B cells from cord blood	blood
28	chr12:4672000-4673800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr12:4672000-4674200	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr12:4672000-4674400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr12:4672000-4675000	Weak transcription	Placenta	Placenta
32	chr12:4672000-4675600	Weak transcription	K562	blood
33	chr12:4672000-4680000	Weak transcription	Brain Anterior Caudate	brain
34	chr12:4672000-4682600	Weak transcription	Spleen	Spleen

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