Variant report

Variant	rs7971891
Chromosome Location	chr12:4754421-4754422
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr12:4754326-4754433	GM12878	blood:	n/a	chr12:4754397-4754412 chr12:4754397-4754412 chr12:4754397-4754412
2	RFX5	chr12:4754345-4754473	H1-hESC	embryonic stem cell:	n/a	chr12:4754397-4754412 chr12:4754397-4754412 chr12:4754397-4754412
3	RFX5	chr12:4754308-4754437	HepG2	liver:	n/a	chr12:4754397-4754412 chr12:4754397-4754412 chr12:4754397-4754412
4	CREB1	chr12:4754210-4754564	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:4743724..4745923-chr12:4752293..4755038,2	K562	blood:
2	chr12:4751073..4755821-chr12:4757118..4761577,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256381	TF binding region
AKAP3	TF binding region
NDUFA9	TF binding region
ENSG00000139180	Chromatin interaction
ENSG00000256799	Chromatin interaction
ENSG00000111254	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11608546	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11608895	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs11610298	0.91[EUR][1000 genomes]
rs11614297	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs11614450	0.91[EUR][1000 genomes]
rs11615364	0.91[EUR][1000 genomes]
rs11615397	1.00[CEU][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12318978	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs12580262	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs34047542	0.88[EUR][1000 genomes]
rs34392018	0.96[EUR][1000 genomes]
rs35827006	0.84[EUR][1000 genomes]
rs55929927	0.84[EUR][1000 genomes]
rs58057028	0.84[EUR][1000 genomes]
rs58588078	0.84[EUR][1000 genomes]
rs58934582	0.84[EUR][1000 genomes]
rs60139771	0.84[EUR][1000 genomes]
rs61909641	0.88[EUR][1000 genomes]
rs61909644	0.84[EUR][1000 genomes]
rs61909645	0.84[EUR][1000 genomes]
rs61909646	1.00[EUR][1000 genomes]
rs61909647	0.88[EUR][1000 genomes]
rs61909651	0.84[EUR][1000 genomes]
rs61909652	0.88[EUR][1000 genomes]
rs61909653	0.88[EUR][1000 genomes]
rs61909657	0.91[EUR][1000 genomes]
rs61909658	0.96[EUR][1000 genomes]
rs61909659	0.96[EUR][1000 genomes]
rs61909960	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61909961	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61909962	0.91[EUR][1000 genomes]
rs61909963	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61909964	0.91[EUR][1000 genomes]
rs61911360	0.96[EUR][1000 genomes]
rs61911366	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61911367	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61911368	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61911369	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61911370	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7137549	0.91[EUR][1000 genomes]
rs74060058	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv898617	chr12:4715082-4768619	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv898618	chr12:4726068-4764137	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv898619	chr12:4737715-4771456	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv898620	chr12:4745313-4771456	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv557125	chr12:4748410-4764137	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1036308	chr12:4748657-4804156	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv898621	chr12:4751798-4768193	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv898622	chr12:4751798-4768619	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv898623	chr12:4751798-4771456	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4724200-4756800	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr12:4737600-4757400	Weak transcription	Pancreas	Pancrea
3	chr12:4737800-4757200	Weak transcription	Brain Anterior Caudate	brain
4	chr12:4745400-4757200	Weak transcription	Brain Substantia Nigra	brain
5	chr12:4746600-4757000	Weak transcription	Small Intestine	intestine
6	chr12:4754000-4754800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:4754000-4755000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:4754000-4756600	Weak transcription	GM12878-XiMat	blood
9	chr12:4754200-4754600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr12:4754200-4754800	Weak transcription	Aorta	Aorta
11	chr12:4754400-4757200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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