Variant report

Variant	rs10129695
Chromosome Location	chr14:55921995-55921996
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10136199	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10140081	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12879787	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12879987	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12884010	0.83[EUR][1000 genomes]
rs12893917	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12897716	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1953738	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28714246	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34509040	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4898866	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901958	chr14:55822095-56045411	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv901960	chr14:55853724-56085130	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv901961	chr14:55853724-56101879	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv901962	chr14:55862956-56101879	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv901963	chr14:55871452-56085130	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv901964	chr14:55871452-56101879	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
7	nsv564874	chr14:55879685-56027815	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1051564	chr14:55895610-56130788	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv542103	chr14:55895610-56130788	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55912600-55922000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr14:55913600-55925000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:55920400-55922000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr14:55920400-55922200	Enhancers	Fetal Heart	heart
5	chr14:55920400-55922200	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr14:55920600-55922000	Enhancers	Fetal Brain Male	brain
7	chr14:55920600-55922000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
8	chr14:55920600-55922400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr14:55920600-55922400	Enhancers	Fetal Intestine Small	intestine
10	chr14:55920800-55922000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr14:55920800-55922000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr14:55920800-55922000	Enhancers	Fetal Intestine Large	intestine
13	chr14:55920800-55922000	Flanking Active TSS	Hela-S3	cervix
14	chr14:55920800-55922200	Enhancers	Fetal Stomach	stomach
15	chr14:55921200-55922000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr14:55921200-55922000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr14:55921200-55922000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr14:55921200-55922000	Enhancers	Lung	lung
19	chr14:55921200-55922200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
20	chr14:55921400-55925000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr14:55921400-55925400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr14:55921600-55922000	Enhancers	Adipose Nuclei	Adipose
23	chr14:55921600-55922200	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr14:55921600-55922400	Enhancers	HMEC	breast
25	chr14:55921600-55925000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr14:55921600-55925400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr14:55921600-55925600	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr14:55921600-55925800	Weak transcription	HSMMtube	muscle
29	chr14:55921800-55922000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr14:55921800-55922000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr14:55921800-55922000	Enhancers	Brain Hippocampus Middle	brain
32	chr14:55921800-55922000	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr14:55921800-55922000	Enhancers	HUVEC	blood vessel
34	chr14:55921800-55922200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr14:55921800-55922200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr14:55921800-55922200	Enhancers	NHEK	skin
37	chr14:55921800-55922400	Enhancers	Duodenum Mucosa	Duodenum
38	chr14:55921800-55922400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr14:55921800-55922400	Enhancers	Stomach Mucosa	stomach
40	chr14:55921800-55925000	Weak transcription	GM12878-XiMat	blood
41	chr14:55921800-55925000	Weak transcription	HSMM	muscle
42	chr14:55921800-55925000	Weak transcription	NHDF-Ad	bronchial
43	chr14:55921800-55925200	Weak transcription	A549	lung
44	chr14:55921800-55925400	Weak transcription	NH-A	brain
45	chr14:55921800-55925400	Weak transcription	Osteobl	bone
46	chr14:55921800-55925600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr14:55921800-55925600	Weak transcription	Right Atrium	heart
48	chr14:55921800-55925800	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr14:55921800-55925800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr14:55921800-55925800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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