Variant report

Variant	rs67909358
Chromosome Location	chr2:54936599-54936600
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:25)

rs_ID	r²[population]
rs10169439	0.89[EUR][1000 genomes]
rs10175967	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10188185	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10194108	0.86[EUR][1000 genomes]
rs11883962	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11888644	0.87[EUR][1000 genomes]
rs12713276	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13419761	0.81[EUR][1000 genomes]
rs13428703	0.91[EUR][1000 genomes]
rs17046149	0.82[EUR][1000 genomes]
rs17046257	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs33946849	0.82[EUR][1000 genomes]
rs34272251	0.82[EUR][1000 genomes]
rs34456795	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs354232	0.88[ASN][1000 genomes]
rs58878579	0.82[EUR][1000 genomes]
rs6545440	0.87[EUR][1000 genomes]
rs6708082	0.89[EUR][1000 genomes]
rs6732751	0.82[EUR][1000 genomes]
rs6740110	0.89[EUR][1000 genomes]
rs6744586	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6752720	0.91[EUR][1000 genomes]
rs6753004	0.91[EUR][1000 genomes]
rs7582640	0.92[EUR][1000 genomes]
rs9917248	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv582024	chr2:54894649-54999712	Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs67909358	EML6	cis	Thyroid	GTEx

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54935400-54936600	Enhancers	Fetal Heart	heart
2	chr2:54935400-54936800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:54935400-54937000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
4	chr2:54935600-54936600	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
5	chr2:54935600-54936600	Flanking Active TSS	Colonic Mucosa	Colon
6	chr2:54935600-54936600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
7	chr2:54935600-54936600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
8	chr2:54935600-54936600	Active TSS	NH-A	brain
9	chr2:54935600-54936800	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr2:54935600-54936800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
11	chr2:54935600-54936800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
12	chr2:54935600-54936800	Active TSS	Brain Cingulate Gyrus	brain
13	chr2:54935600-54936800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
14	chr2:54935600-54936800	Active TSS	Fetal Brain Female	brain
15	chr2:54935600-54937000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:54935600-54937000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:54935600-54937600	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr2:54935800-54936600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr2:54935800-54936600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:54935800-54936600	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr2:54935800-54936600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:54935800-54936600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:54935800-54936600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:54935800-54936600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
25	chr2:54935800-54936600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
26	chr2:54935800-54936600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:54935800-54936600	Active TSS	Brain Anterior Caudate	brain
28	chr2:54935800-54936600	Flanking Active TSS	Brain Germinal Matrix	brain
29	chr2:54935800-54936600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
30	chr2:54935800-54936600	Flanking Active TSS	Esophagus	oesophagus
31	chr2:54935800-54936600	Flanking Active TSS	HMEC	breast
32	chr2:54935800-54936800	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr2:54935800-54936800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr2:54935800-54936800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
35	chr2:54935800-54936800	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr2:54935800-54936800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:54935800-54936800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:54935800-54936800	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
39	chr2:54935800-54936800	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr2:54935800-54936800	Active TSS	Brain Angular Gyrus	brain
41	chr2:54935800-54936800	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr2:54935800-54936800	Active TSS	Placenta	Placenta
43	chr2:54935800-54936800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
44	chr2:54935800-54936800	Active TSS	Left Ventricle	heart
45	chr2:54935800-54936800	Active TSS	Lung	lung
46	chr2:54935800-54936800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
47	chr2:54935800-54936800	Active TSS	Rectal Smooth Muscle	rectum
48	chr2:54935800-54936800	Active TSS	Right Atrium	heart
49	chr2:54935800-54936800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
50	chr2:54935800-54937000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast

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