Variant report

Variant	rs2691075
Chromosome Location	chr3:81872000-81872001
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs2316138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2594550	1.00[YRI][hapmap]
rs2594554	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2594555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2594556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2594557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2594559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2594561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2594563	1.00[YRI][hapmap]
rs2680241	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2680243	1.00[YRI][hapmap]
rs2680244	1.00[YRI][hapmap]
rs2680248	1.00[YRI][hapmap]
rs2680250	1.00[YRI][hapmap]
rs2680252	0.83[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2680253	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2680255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2680256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2680266	1.00[YRI][hapmap]
rs2680269	1.00[YRI][hapmap]
rs2680270	1.00[YRI][hapmap]
rs2680279	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2680281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2691074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2691076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2691087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv949545	chr3:81523898-81893929	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv999992	chr3:81693662-82015969	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv536605	chr3:81693662-82015969	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	esv3446252	chr3:81871880-81872050	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:81852400-81872200	Weak transcription	Left Ventricle	heart
2	chr3:81866400-81872400	Weak transcription	Psoas Muscle	Psoas
3	chr3:81867000-81872400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr3:81867200-81872200	Weak transcription	Pancreas	Pancrea
5	chr3:81870000-81873200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:81870800-81872200	Enhancers	Dnd41	blood
7	chr3:81870800-81872600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:81871000-81872000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr3:81871000-81873800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr3:81871000-81874400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr3:81871200-81872600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:81871400-81872400	Weak transcription	Fetal Heart	heart
13	chr3:81871400-81872800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:81871600-81872600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr3:81871600-81872800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr3:81871600-81872800	Weak transcription	Brain Substantia Nigra	brain
17	chr3:81871600-81873000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:81871600-81873000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr3:81871800-81872200	Weak transcription	Brain Hippocampus Middle	brain
20	chr3:81871800-81872800	Weak transcription	Brain Anterior Caudate	brain
21	chr3:81871800-81872800	Enhancers	GM12878-XiMat	blood
22	chr3:81871800-81873400	Enhancers	Liver	Liver
23	chr3:81872000-81872400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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