Variant report

Variant	rs16828912
Chromosome Location	chr2:188210406-188210407
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12105527	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs16828899	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs16828975	1.00[ASW][hapmap];1.00[MEX][hapmap]
rs35614880	1.00[EUR][1000 genomes]
rs57389946	1.00[EUR][1000 genomes]
rs73048636	1.00[EUR][1000 genomes]
rs7608001	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs8176512	0.87[EUR][1000 genomes]
rs8176522	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs8176534	0.87[EUR][1000 genomes]
rs8176545	0.87[EUR][1000 genomes]
rs8176559	1.00[MEX][hapmap]
rs9653305	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949700	chr2:187713412-188361211	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS 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 miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1003061	chr2:187950057-188282330	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1000617	chr2:187950057-188290511	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv533935	chr2:188089148-188284766	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv834487	chr2:188182556-188353363	Strong transcription Enhancers 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 Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16828912	FAM118A	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188203200-188218200	Weak transcription	Aorta	Aorta
2	chr2:188203800-188222400	Weak transcription	Fetal Muscle Leg	muscle
3	chr2:188204000-188253600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr2:188204600-188213400	Weak transcription	Fetal Lung	lung
5	chr2:188206800-188213800	Strong transcription	HUVEC	blood vessel
6	chr2:188208600-188210600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr2:188208800-188250400	Weak transcription	Primary T cells from cord blood	blood
8	chr2:188209000-188212000	Strong transcription	Primary hematopoietic stem cells	blood
9	chr2:188209000-188229600	Weak transcription	Fetal Thymus	thymus
10	chr2:188209200-188222600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr2:188209400-188213800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:188209600-188221400	Weak transcription	Fetal Kidney	kidney
13	chr2:188209800-188212200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:188209800-188233400	Weak transcription	Right Ventricle	heart
15	chr2:188210000-188212600	Weak transcription	Psoas Muscle	Psoas
16	chr2:188210200-188210800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:188210200-188211000	Strong transcription	Adipose Nuclei	Adipose
18	chr2:188210200-188211000	Strong transcription	Ovary	ovary
19	chr2:188210200-188211400	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr2:188210200-188212200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:188210200-188212200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:188210400-188210600	Strong transcription	Left Ventricle	heart

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