Variant report

Variant	rs11694213
Chromosome Location	chr2:56088667-56088668
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:56088294..56090507-chr2:56095007..56097587,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11674409	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs11687955	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]
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]
rs6726181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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]
rs7582381	0.95[ASN][1000 genomes]
rs7589466	0.83[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
rs11694213	CCDC104	cis	parietal	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56083400-56088800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr2:56086400-56089400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:56087600-56088800	Weak transcription	Placenta	Placenta
4	chr2:56087600-56088800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:56087800-56089000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:56087800-56089800	Enhancers	NHLF	lung
7	chr2:56088000-56089000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:56088200-56090800	Enhancers	HMEC	breast
9	chr2:56088200-56090800	Enhancers	NHDF-Ad	bronchial
10	chr2:56088400-56089000	Weak transcription	Pancreas	Pancrea
11	chr2:56088400-56089200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:56088600-56088800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:56088600-56088800	Genic enhancers	Osteobl	bone
14	chr2:56088600-56089000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:56088600-56089000	Enhancers	Fetal Muscle Leg	muscle
16	chr2:56088600-56089000	Enhancers	A549	lung
17	chr2:56088600-56089200	Enhancers	Aorta	Aorta
18	chr2:56088600-56089200	Enhancers	NH-A	brain
19	chr2:56088600-56089400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:56088600-56089600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:56088600-56089600	Enhancers	Ovary	ovary
22	chr2:56088600-56089600	Flanking Active TSS	Hela-S3	cervix
23	chr2:56088600-56089600	Enhancers	HSMMtube	muscle
24	chr2:56088600-56089800	Enhancers	HSMM	muscle
25	chr2:56088600-56090000	Enhancers	Fetal Stomach	stomach
26	chr2:56088600-56090200	Enhancers	Fetal Lung	lung
27	chr2:56088600-56090400	Enhancers	Adipose Nuclei	Adipose
28	chr2:56088600-56090800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:56088600-56090800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:56088600-56090800	Enhancers	NHEK	skin
31	chr2:56088600-56091000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:56088600-56092400	Enhancers	HUVEC	blood vessel

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