Variant report

Variant	rs6726181
Chromosome Location	chr2:56087766-56087767
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11674409	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs11680866	0.82[TSI][hapmap]
rs11687955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11694213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1367230	0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs17047262	0.90[ASN][1000 genomes]
rs17047290	0.83[TSI][hapmap]
rs17278665	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4671262	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55867135	0.91[EUR][1000 genomes]
rs56122343	0.91[EUR][1000 genomes]
rs6545528	0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6545529	0.93[ASN][1000 genomes]
rs6735306	0.83[CEU][hapmap]
rs72807749	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs72807754	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7565703	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7573078	0.83[TSI][hapmap]
rs7582381	0.95[ASN][1000 genomes]
rs7589466	0.88[TSI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer 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 miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6726181	CCDC104	cis	parietal	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56079000-56088600	Weak transcription	Fetal Lung	lung
2	chr2:56083200-56088600	Weak transcription	Ovary	ovary
3	chr2:56083400-56088800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:56084200-56088600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:56084400-56088600	Weak transcription	Aorta	Aorta
6	chr2:56084600-56087800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:56084600-56087800	Weak transcription	NHLF	lung
8	chr2:56084600-56088600	Weak transcription	NH-A	brain
9	chr2:56084800-56088600	Weak transcription	Adipose Nuclei	Adipose
10	chr2:56085200-56088600	Weak transcription	A549	lung
11	chr2:56085400-56088200	Weak transcription	HMEC	breast
12	chr2:56085400-56088600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:56085600-56088600	Weak transcription	HSMMtube	muscle
14	chr2:56086200-56088000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:56086200-56088600	Weak transcription	HUVEC	blood vessel
16	chr2:56086400-56088600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:56086400-56089400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:56086800-56088600	Enhancers	Hela-S3	cervix
19	chr2:56087400-56088000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:56087400-56088600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:56087400-56088600	Weak transcription	HSMM	muscle
22	chr2:56087400-56088600	Weak transcription	NHEK	skin
23	chr2:56087400-56088600	Weak transcription	Osteobl	bone
24	chr2:56087600-56088600	Weak transcription	Fetal Muscle Leg	muscle
25	chr2:56087600-56088600	Weak transcription	Fetal Stomach	stomach
26	chr2:56087600-56088800	Weak transcription	Placenta	Placenta
27	chr2:56087600-56088800	Weak transcription	Placenta Amnion	Placenta Amnion

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