Variant report

Variant	rs35389286
Chromosome Location	chr14:78105196-78105197
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12431525	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12431896	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12433954	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12434701	0.97[ASN][1000 genomes]
rs12436803	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs176895	0.90[ASN][1000 genomes]
rs176896	0.90[ASN][1000 genomes]
rs176899	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs176906	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs176908	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs176911	0.90[ASN][1000 genomes]
rs176912	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17751917	0.83[ASN][1000 genomes]
rs17751923	0.83[ASN][1000 genomes]
rs17751980	0.83[ASN][1000 genomes]
rs17751993	0.83[ASN][1000 genomes]
rs17752165	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17752262	0.81[ASN][1000 genomes]
rs17824984	0.83[ASN][1000 genomes]
rs17825014	0.83[ASN][1000 genomes]
rs17825229	0.87[ASN][1000 genomes]
rs17825235	0.81[ASN][1000 genomes]
rs2178877	0.83[ASN][1000 genomes]
rs2364578	0.83[ASN][1000 genomes]
rs2886122	0.87[ASN][1000 genomes]
rs2886132	0.83[ASN][1000 genomes]
rs4497612	0.83[ASN][1000 genomes]
rs55799811	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58312042	0.93[ASN][1000 genomes]
rs59721556	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053810	chr14:77987871-78148320	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1051554	chr14:78004196-78122980	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv2758362	chr14:78074180-78262572	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv2759998	chr14:78074180-78262572	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	esv2757575	chr14:78104897-78212462	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	esv34940	chr14:78104897-78222798	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35389286	ADCK1	cis	Whole Blood	GTEx

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78102600-78107600	Weak transcription	Lung	lung
2	chr14:78103000-78107800	Weak transcription	HepG2	liver
3	chr14:78103600-78105400	Enhancers	NHEK	skin
4	chr14:78104000-78105800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:78104000-78105800	Enhancers	Stomach Mucosa	stomach
6	chr14:78104000-78106000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr14:78104000-78106000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:78104000-78106000	Enhancers	NH-A	brain
9	chr14:78104000-78106800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:78104200-78105600	Enhancers	NHDF-Ad	bronchial
11	chr14:78104200-78106000	Enhancers	Osteobl	bone
12	chr14:78104200-78107600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr14:78104400-78105200	Enhancers	HSMM	muscle
14	chr14:78104400-78105800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:78104400-78106400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr14:78104600-78105600	Enhancers	HMEC	breast
17	chr14:78104800-78105200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr14:78104800-78105200	Enhancers	HSMMtube	muscle
19	chr14:78104800-78105200	Enhancers	NHLF	lung
20	chr14:78104800-78105400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:78104800-78105400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr14:78104800-78105400	Enhancers	Duodenum Mucosa	Duodenum
23	chr14:78104800-78105400	Enhancers	HUVEC	blood vessel
24	chr14:78104800-78105600	Enhancers	Fetal Intestine Large	intestine
25	chr14:78104800-78106000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr14:78105000-78105200	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr14:78105000-78105200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr14:78105000-78105200	Enhancers	Placenta	Placenta
29	chr14:78105000-78105400	Enhancers	Adipose Nuclei	Adipose
30	chr14:78105000-78105400	Enhancers	Fetal Intestine Small	intestine
31	chr14:78105000-78105400	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr14:78105000-78105600	Enhancers	K562	blood
33	chr14:78105000-78107200	Enhancers	Monocytes-CD14+_RO01746	blood

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