Variant report

Variant	rs17678595
Chromosome Location	chr14:39528570-39528571
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:39506080..39508862-chr14:39528355..39530994,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10459481	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10872915	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11558739	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11620885	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11620889	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11622021	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11628065	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12184985	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12432236	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12433305	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12435383	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12436766	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17616116	0.80[EUR][1000 genomes]
rs17678780	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1964841	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2273316	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2415534	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs34417819	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35802696	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57049071	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57120608	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61999361	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61999428	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61999432	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61999433	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61999434	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61999436	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61999439	0.83[ASN][1000 genomes]
rs61999443	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs61999444	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs61999445	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62000580	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7157388	0.80[EUR][1000 genomes]
rs7158043	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72673310	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs761808	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9322995	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9788627	0.83[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	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1038622	chr14:39423562-39604035	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv564417	chr14:39452317-39535560	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39519600-39529400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr14:39521200-39529800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr14:39521200-39535600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:39523200-39529600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:39523800-39540200	Weak transcription	Psoas Muscle	Psoas
6	chr14:39524000-39528600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:39524000-39529200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
8	chr14:39524200-39529000	ZNF genes & repeats	GM12878-XiMat	blood
9	chr14:39524200-39529400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr14:39524200-39529600	ZNF genes & repeats	Primary T cells from cord blood	blood
11	chr14:39524400-39529200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
12	chr14:39525400-39529400	Weak transcription	Fetal Heart	heart
13	chr14:39525400-39540600	Strong transcription	NH-A	brain
14	chr14:39525600-39528600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr14:39525600-39529200	Weak transcription	Hela-S3	cervix
16	chr14:39525600-39529400	Weak transcription	Brain Substantia Nigra	brain
17	chr14:39525600-39530800	Weak transcription	NHLF	lung
18	chr14:39525600-39533400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr14:39525600-39533400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr14:39525600-39540600	Strong transcription	HSMM	muscle
21	chr14:39525600-39541000	Weak transcription	Brain Angular Gyrus	brain
22	chr14:39525600-39565600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr14:39526000-39529000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr14:39526000-39529000	Weak transcription	HMEC	breast
25	chr14:39526000-39529200	Weak transcription	Brain Hippocampus Middle	brain
26	chr14:39526000-39529400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr14:39526000-39537400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr14:39526000-39557200	Strong transcription	Osteobl	bone
29	chr14:39526200-39529000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr14:39526200-39535200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr14:39526400-39528600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr14:39526400-39529200	Weak transcription	Fetal Brain Male	brain
33	chr14:39526400-39563200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr14:39526600-39534200	Strong transcription	Brain Germinal Matrix	brain
35	chr14:39526800-39528600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr14:39526800-39528800	Weak transcription	HUVEC	blood vessel
37	chr14:39526800-39529200	Weak transcription	Fetal Thymus	thymus
38	chr14:39526800-39529200	Weak transcription	Ovary	ovary
39	chr14:39526800-39529400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr14:39526800-39529600	Weak transcription	Fetal Kidney	kidney
41	chr14:39526800-39530400	Weak transcription	Left Ventricle	heart
42	chr14:39526800-39530400	Weak transcription	Pancreas	Pancrea
43	chr14:39526800-39531000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr14:39526800-39531200	Weak transcription	Colon Smooth Muscle	Colon
45	chr14:39526800-39533400	Weak transcription	Rectal Smooth Muscle	rectum
46	chr14:39526800-39534000	Weak transcription	Small Intestine	intestine
47	chr14:39526800-39534800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr14:39526800-39535000	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr14:39526800-39535400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr14:39526800-39535400	Strong transcription	NHDF-Ad	bronchial

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