Variant report

Variant	rs17107583
Chromosome Location	chr14:70466081-70466082
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11628857	0.82[CEU][hapmap]
rs17107526	0.86[CEU][hapmap];0.86[TSI][hapmap];0.86[EUR][1000 genomes]
rs17107578	0.82[CEU][hapmap];0.89[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs56093707	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67769254	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72727964	0.81[EUR][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	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv832824	chr14:70320639-70511401	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70439800-70477200	Weak transcription	Spleen	Spleen
2	chr14:70450600-70477200	Weak transcription	Fetal Brain Female	brain
3	chr14:70457800-70484800	Weak transcription	Brain Substantia Nigra	brain
4	chr14:70458600-70480800	Weak transcription	Brain Germinal Matrix	brain
5	chr14:70459000-70484800	Weak transcription	Gastric	stomach
6	chr14:70460000-70473800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:70460200-70468000	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr14:70460400-70472200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr14:70462000-70468600	Enhancers	HMEC	breast
10	chr14:70462200-70475600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr14:70462600-70467800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr14:70462600-70467800	Enhancers	NHEK	skin
13	chr14:70462600-70468000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr14:70462600-70468400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr14:70462800-70467600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr14:70463000-70468000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr14:70463800-70466200	Enhancers	Liver	Liver
18	chr14:70463800-70467000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr14:70463800-70469400	Enhancers	Pancreas	Pancrea
20	chr14:70464200-70466200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr14:70464200-70468000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr14:70464400-70466200	Enhancers	HSMM	muscle
23	chr14:70464400-70467200	Enhancers	Osteobl	bone
24	chr14:70464600-70466200	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr14:70464600-70467000	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr14:70464800-70466600	Enhancers	Fetal Stomach	stomach
27	chr14:70464800-70466800	Enhancers	HUVEC	blood vessel
28	chr14:70465000-70473600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:70465200-70477000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr14:70465400-70466400	Enhancers	Fetal Thymus	thymus
31	chr14:70465400-70468200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:70465400-70468200	Enhancers	GM12878-XiMat	blood
33	chr14:70465600-70466600	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr14:70465600-70466600	Enhancers	Stomach Mucosa	stomach
35	chr14:70465600-70466800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr14:70465600-70466800	Strong transcription	HepG2	liver
37	chr14:70465800-70466200	Flanking Active TSS	A549	lung
38	chr14:70465800-70466400	Enhancers	Hela-S3	cervix
39	chr14:70466000-70466800	Enhancers	Fetal Muscle Leg	muscle
40	chr14:70466000-70467000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr14:70466000-70467000	Enhancers	NH-A	brain
42	chr14:70466000-70475600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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