Variant report

Variant	rs8014552
Chromosome Location	chr14:35221900-35221901
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:35220615..35223020-chr14:35450573..35452983,2	K562	blood:

Variant related genes	Relation type
ENSG00000258704	Chromatin interaction
ENSG00000100883	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10129577	0.89[EUR][1000 genomes]
rs10147109	0.95[ASN][1000 genomes]
rs17102745	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2275147	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28690092	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28804104	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55909288	0.95[ASN][1000 genomes]
rs56280418	0.94[EUR][1000 genomes]
rs60293526	0.85[ASN][1000 genomes]
rs60358922	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66496703	0.92[EUR][1000 genomes]
rs66935528	0.85[ASN][1000 genomes]
rs67791098	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7148739	0.90[EUR][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	nsv1040980	chr14:34345018-35255592	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv1048408	chr14:34958352-35255592	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	esv3392700	chr14:34989406-35365530	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1041857	chr14:35084889-35417180	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv1040350	chr14:35196524-35245409	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv1051540	chr14:35200858-35278635	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35209800-35222600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:35210600-35226800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:35211800-35227800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr14:35212000-35222000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr14:35212000-35222200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr14:35212000-35222600	Weak transcription	Primary T cells from cord blood	blood
7	chr14:35212000-35222600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr14:35212200-35225800	Weak transcription	Lung	lung
9	chr14:35212400-35222400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr14:35215000-35226000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr14:35215000-35226200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr14:35215200-35225600	Weak transcription	Spleen	Spleen
13	chr14:35215800-35222600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr14:35216000-35225800	Weak transcription	Fetal Lung	lung
15	chr14:35216200-35222400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr14:35216600-35230600	Weak transcription	K562	blood
17	chr14:35217800-35225800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr14:35218200-35222600	Weak transcription	Fetal Stomach	stomach
19	chr14:35218200-35226600	Weak transcription	Aorta	Aorta
20	chr14:35218200-35232400	Weak transcription	Psoas Muscle	Psoas
21	chr14:35218400-35222200	Weak transcription	A549	lung
22	chr14:35218600-35222000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr14:35218600-35222200	Weak transcription	Brain Germinal Matrix	brain
24	chr14:35218600-35222400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr14:35219200-35230600	Weak transcription	Fetal Kidney	kidney
26	chr14:35219400-35262000	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr14:35219400-35267000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:35219600-35222200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr14:35219600-35222200	Weak transcription	Adipose Nuclei	Adipose
30	chr14:35219600-35222600	Weak transcription	Fetal Intestine Small	intestine
31	chr14:35219600-35226000	Weak transcription	Colonic Mucosa	Colon
32	chr14:35219600-35229400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr14:35219600-35254600	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr14:35219800-35222000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr14:35219800-35229200	Weak transcription	NHLF	lung
36	chr14:35219800-35229800	Weak transcription	Small Intestine	intestine
37	chr14:35219800-35231600	Weak transcription	Right Ventricle	heart
38	chr14:35220000-35223000	Strong transcription	Fetal Thymus	thymus
39	chr14:35220200-35222600	Weak transcription	Thymus	Thymus
40	chr14:35220200-35231000	Weak transcription	Hela-S3	cervix
41	chr14:35220400-35222000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr14:35220400-35225800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr14:35220400-35225800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr14:35220400-35225800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr14:35220400-35225800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr14:35220400-35232200	Weak transcription	HSMMtube	muscle
47	chr14:35220600-35222200	Weak transcription	Brain Hippocampus Middle	brain
48	chr14:35220600-35222400	Weak transcription	Osteobl	bone
49	chr14:35220600-35223000	Strong transcription	Primary B cells from cord blood	blood
50	chr14:35220600-35225000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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