Variant report

Variant	rs11611306
Chromosome Location	chr12:83058061-83058062
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11608976	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11610137	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11612754	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12296320	1.00[CHB][hapmap];0.81[JPT][hapmap];0.96[ASN][1000 genomes]
rs12315379	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12810394	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12822695	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12822754	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12826005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1922577	1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs2403019	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2896429	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2896436	1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs34000474	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs35351759	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9989031	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053093	chr12:82645292-83287809	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv541551	chr12:82645292-83287809	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv559541	chr12:82715210-83108395	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv899348	chr12:82744187-83169297	Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers 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	19 gene(s)	inside rSNPs	diseases
5	nsv427917	chr12:82917031-83279712	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Active TSS 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	12 gene(s)	inside rSNPs	diseases
6	nsv899349	chr12:82931646-83114286	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv521849	chr12:83013783-83991479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83053600-83059600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:83054800-83060400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:83057400-83058200	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr12:83057400-83058200	Enhancers	Colon Smooth Muscle	Colon
5	chr12:83057400-83058200	Enhancers	Rectal Smooth Muscle	rectum
6	chr12:83057600-83058200	Enhancers	Brain Hippocampus Middle	brain
7	chr12:83057600-83058200	Enhancers	Fetal Stomach	stomach
8	chr12:83057600-83059400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:83057600-83059800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr12:83057600-83059800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr12:83057600-83059800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:83057800-83058200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:83057800-83058200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:83057800-83058200	Active TSS	Brain Substantia Nigra	brain
15	chr12:83057800-83058200	Enhancers	Stomach Smooth Muscle	stomach
16	chr12:83057800-83058400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr12:83057800-83059800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr12:83058000-83058200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:83058000-83058200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr12:83058000-83058600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:83058000-83058800	Weak transcription	Brain Anterior Caudate	brain
22	chr12:83058000-83060000	Enhancers	HUES6 Cell Line	embryonic stem cell

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