Variant report

Variant	rs2004555
Chromosome Location	chr14:67976057-67976058
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10134226	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10144299	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10873203	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11158672	0.92[AFR][1000 genomes]
rs11850406	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12897380	0.89[AFR][1000 genomes]
rs1885038	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1885040	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28373080	0.97[AFR][1000 genomes]
rs2874093	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1320	chr14:67938724-67984157	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67935000-67977200	Weak transcription	Brain Angular Gyrus	brain
2	chr14:67956000-67978000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr14:67956200-67981000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr14:67959400-67979800	Weak transcription	Fetal Brain Male	brain
5	chr14:67961400-67979400	Weak transcription	Primary B cells from cord blood	blood
6	chr14:67961400-67979400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr14:67961600-67976800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:67961600-67979400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr14:67961800-67976400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:67962800-67979200	Weak transcription	Pancreas	Pancrea
11	chr14:67964200-67980800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr14:67965000-67979400	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr14:67965000-67980200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr14:67965200-67980200	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr14:67965400-67980800	Weak transcription	Primary T cells from cord blood	blood
16	chr14:67968800-67980400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr14:67970200-67980200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr14:67970200-67980800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr14:67970400-67980200	Weak transcription	Placenta	Placenta
20	chr14:67971000-67980600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr14:67971200-67977000	Weak transcription	Brain Hippocampus Middle	brain
22	chr14:67973200-67977000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:67973400-67976800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:67974000-67977000	Weak transcription	HMEC	breast
25	chr14:67974200-67976400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr14:67974400-67976600	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr14:67974600-67977000	Weak transcription	NHEK	skin
28	chr14:67974800-67976400	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr14:67974800-67976800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr14:67974800-67977000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:67975400-67976800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr14:67975800-67978800	Weak transcription	Fetal Intestine Large	intestine
33	chr14:67975800-67979000	Weak transcription	Fetal Intestine Small	intestine
34	chr14:67975800-67979400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr14:67975800-67981000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr14:67976000-67979400	Weak transcription	GM12878-XiMat	blood

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