Variant report

Variant	rs12696195
Chromosome Location	chr3:100514481-100514482
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs13069634	0.92[CEU][hapmap];0.92[EUR][1000 genomes]
rs13089098	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13433770	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1979895	0.92[CEU][hapmap]
rs1992107	0.88[JPT][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6765500	0.85[AMR][1000 genomes]
rs6808242	0.83[TSI][hapmap]
rs73861213	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7609779	0.81[CHB][hapmap]
rs7613610	0.82[CHB][hapmap]
rs7615467	1.00[CEU][hapmap];0.89[TSI][hapmap];0.94[EUR][1000 genomes]
rs7632038	0.81[CHB][hapmap]
rs7642643	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9814084	0.92[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes]
rs9823432	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9833369	0.81[AMR][1000 genomes]
rs983474	0.81[CHB][hapmap]
rs9836360	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9842968	0.86[CHB][hapmap]
rs9846590	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9873555	0.92[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9877253	0.89[TSI][hapmap];0.88[YRI][hapmap];0.83[EUR][1000 genomes]
rs9877951	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap]

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	esv1796184	chr3:100507827-100522384	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv591170	chr3:100514481-100522220	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	esv1795329	chr3:100514481-100522384	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv1803695	chr3:100514481-100522384	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12696195	FAM55C	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100475600-100520000	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr3:100494800-100523400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr3:100501200-100516600	Weak transcription	HSMM	muscle
4	chr3:100502200-100518600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:100502400-100530400	Weak transcription	Colon Smooth Muscle	Colon
6	chr3:100502600-100516800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr3:100505000-100515400	Weak transcription	Adipose Nuclei	Adipose
8	chr3:100505000-100515400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr3:100505000-100516600	Weak transcription	Left Ventricle	heart
10	chr3:100505200-100515200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:100505200-100515200	Weak transcription	Fetal Stomach	stomach
12	chr3:100505200-100515400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr3:100505200-100515400	Weak transcription	HUVEC	blood vessel
14	chr3:100505200-100558200	Weak transcription	Ovary	ovary
15	chr3:100505200-100582800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr3:100505800-100515400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:100505800-100515400	Weak transcription	Fetal Lung	lung
18	chr3:100506000-100548400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr3:100507000-100515400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr3:100509200-100515400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr3:100509200-100515400	Weak transcription	NHDF-Ad	bronchial
22	chr3:100509200-100518200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr3:100513600-100523000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:100514200-100547600	Weak transcription	Fetal Muscle Leg	muscle
25	chr3:100514400-100515400	Weak transcription	Osteobl	bone
26	chr3:100514400-100529000	Weak transcription	HSMMtube	muscle

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