Variant report

Variant	rs12311208
Chromosome Location	chr12:86627309-86627310
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:86626187..86628759-chr12:86629956..86631967,2	K562	blood:

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]
rs12305480	1.00[YRI][hapmap];1.00[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]
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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86624600-86627800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr12:86625800-86628000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:86626000-86628200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:86626200-86627400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr12:86626200-86627400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:86626200-86627400	Enhancers	Fetal Heart	heart
7	chr12:86626200-86627400	Enhancers	HUVEC	blood vessel
8	chr12:86626400-86629000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr12:86626800-86627600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr12:86627000-86627400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr12:86627000-86627400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr12:86627000-86627800	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr12:86627200-86628200	Weak transcription	Fetal Brain Female	brain
14	chr12:86627200-86628600	Weak transcription	Brain Germinal Matrix	brain

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