Variant report

Variant	rs12305480
Chromosome Location	chr12:86624514-86624515
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10160933	1.00[YRI][hapmap]
rs11103901	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs11103902	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs11103905	0.88[AFR][1000 genomes]
rs11103906	0.88[AFR][1000 genomes]
rs11103907	0.88[AFR][1000 genomes]
rs11103910	1.00[YRI][hapmap]
rs11103922	0.87[YRI][hapmap]
rs11103937	1.00[YRI][hapmap]
rs12296316	0.88[YRI][hapmap]
rs12298208	0.88[AFR][1000 genomes]
rs12298422	0.88[AFR][1000 genomes]
rs12299772	0.88[AFR][1000 genomes]
rs12299950	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs12303146	1.00[AFR][1000 genomes]
rs12304625	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs12305255	0.80[AFR][1000 genomes]
rs12306455	0.88[AFR][1000 genomes]
rs12306583	0.83[AFR][1000 genomes]
rs12306726	1.00[YRI][hapmap]
rs12308711	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs12309297	0.88[AFR][1000 genomes]
rs12311208	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs12311647	1.00[YRI][hapmap]
rs12315031	0.88[AFR][1000 genomes]
rs12316480	1.00[YRI][hapmap]
rs12318124	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs12318366	1.00[YRI][hapmap]
rs12318727	1.00[AFR][1000 genomes]
rs12318998	1.00[YRI][hapmap]
rs12321412	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs12321784	0.87[YRI][hapmap]
rs4842468	1.00[YRI][hapmap]
rs61949045	0.80[AFR][1000 genomes]
rs9971936	0.87[YRI][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	nsv1049179	chr12:86056376-86799188	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2761759	chr12:86415936-86747726	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv518059	chr12:86416212-86747726	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1041397	chr12:86438607-86737558	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1053087	chr12:86569126-86733418	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv541564	chr12:86569126-86733418	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1037003	chr12:86610040-86798121	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1045386	chr12:86616015-86733418	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv541565	chr12:86616015-86733418	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr12:86614000-86625600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:86622200-86624800	Enhancers	HUVEC	blood vessel
3	chr12:86622600-86625400	Enhancers	Hela-S3	cervix
4	chr12:86623600-86624600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr12:86623800-86624600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr12:86623800-86625000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:86623800-86625000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr12:86623800-86625000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr12:86623800-86625200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:86623800-86625400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:86623800-86625800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:86624000-86624800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:86624000-86625000	Enhancers	NH-A	brain
14	chr12:86624000-86625200	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr12:86624000-86625200	Flanking Active TSS	A549	lung
16	chr12:86624200-86624600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr12:86624200-86624600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr12:86624200-86625000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:86624200-86625200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr12:86624400-86624600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:86624400-86625200	Enhancers	Muscle Satellite Cultured Cells	--

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