Variant report

Variant	rs12435035
Chromosome Location	chr14:68218855-68218856
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10782455	0.89[ASN][1000 genomes]
rs11158691	0.84[ASN][1000 genomes]
rs11158692	0.81[ASN][1000 genomes]
rs11622772	0.86[ASN][1000 genomes]
rs12433998	0.90[ASN][1000 genomes]
rs12879105	0.89[ASN][1000 genomes]
rs12881478	0.91[ASN][1000 genomes]
rs3825726	0.83[ASN][1000 genomes]
rs742868	0.97[ASN][1000 genomes]
rs9449	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1054697	chr14:68202004-68345982	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68196200-68219000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:68202800-68230800	Weak transcription	Right Atrium	heart
3	chr14:68204000-68219600	Weak transcription	Small Intestine	intestine
4	chr14:68206200-68251000	Weak transcription	K562	blood
5	chr14:68211600-68230800	Weak transcription	Stomach Mucosa	stomach
6	chr14:68212400-68282800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr14:68212800-68222200	Strong transcription	Stomach Smooth Muscle	stomach
8	chr14:68212800-68224000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr14:68212800-68224400	Strong transcription	Brain Hippocampus Middle	brain
10	chr14:68212800-68225400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr14:68212800-68225400	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr14:68212800-68229800	Strong transcription	Fetal Intestine Large	intestine
13	chr14:68213000-68225400	Strong transcription	Adipose Nuclei	Adipose
14	chr14:68213000-68225400	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr14:68213000-68229800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr14:68213000-68233000	Strong transcription	Primary hematopoietic stem cells	blood
17	chr14:68213000-68233000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr14:68213000-68280800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr14:68213200-68221800	Strong transcription	Brain Angular Gyrus	brain
20	chr14:68213200-68223400	Strong transcription	Primary B cells from cord blood	blood
21	chr14:68213200-68224400	Strong transcription	Primary T cells from cord blood	blood
22	chr14:68213200-68229800	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr14:68213200-68243200	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr14:68213400-68222200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr14:68213400-68225400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr14:68213400-68281200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:68213600-68222600	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr14:68213600-68225200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr14:68213600-68229200	Strong transcription	Placenta	Placenta
30	chr14:68213600-68279600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr14:68213800-68222200	Strong transcription	Left Ventricle	heart
32	chr14:68213800-68222200	Strong transcription	Ovary	ovary
33	chr14:68213800-68223000	Strong transcription	Lung	lung
34	chr14:68213800-68225400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr14:68213800-68225800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr14:68213800-68228800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr14:68213800-68237000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr14:68213800-68280600	Strong transcription	Liver	Liver
39	chr14:68214000-68222200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr14:68214000-68222800	Strong transcription	Duodenum Mucosa	Duodenum
41	chr14:68214000-68223000	Strong transcription	Aorta	Aorta
42	chr14:68214000-68224200	Strong transcription	Thymus	Thymus
43	chr14:68214000-68225400	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr14:68214000-68232000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr14:68214000-68258200	Strong transcription	Brain Germinal Matrix	brain
46	chr14:68214600-68221800	Strong transcription	H9 Cell Line	embryonic stem cell
47	chr14:68214600-68221800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr14:68214600-68222000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr14:68214600-68222000	Strong transcription	Colon Smooth Muscle	Colon
50	chr14:68214600-68222200	Strong transcription	H1 Cell Line	embryonic stem cell

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