Variant report

Variant	rs13406145
Chromosome Location	chr2:183243783-183243784
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs13392487	0.83[ASW][hapmap];0.97[LWK][hapmap];0.82[MKK][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13417045	0.82[LWK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs1438071	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533782	chr2:183059730-183500040	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv834481	chr2:183189758-183339577	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183235600-183243800	Weak transcription	Fetal Kidney	kidney
2	chr2:183238200-183243800	Weak transcription	NHDF-Ad	bronchial
3	chr2:183240800-183248400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:183242200-183244000	Weak transcription	Fetal Stomach	stomach
5	chr2:183242200-183245600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:183242200-183245600	Weak transcription	Aorta	Aorta
7	chr2:183243000-183244600	Enhancers	Fetal Brain Female	brain
8	chr2:183243200-183244200	Enhancers	Fetal Brain Male	brain
9	chr2:183243200-183244200	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr2:183243200-183244600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:183243400-183244200	Enhancers	Adipose Nuclei	Adipose
12	chr2:183243400-183244200	Enhancers	Rectal Smooth Muscle	rectum
13	chr2:183243400-183244400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr2:183243400-183244600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:183243400-183244600	Enhancers	Colon Smooth Muscle	Colon
16	chr2:183243400-183244600	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr2:183243400-183244600	Enhancers	Osteobl	bone
18	chr2:183243400-183244800	Enhancers	Fetal Lung	lung
19	chr2:183243600-183244200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:183243600-183244200	Enhancers	HUVEC	blood vessel
21	chr2:183243600-183244400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr2:183243600-183244400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:183243600-183244600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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