Variant report

Variant	rs17107547
Chromosome Location	chr14:70453679-70453680
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10134291	0.83[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs10134965	0.83[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs11158827	0.83[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs1156446	0.81[AMR][1000 genomes]
rs12050076	0.84[CEU][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12050089	0.90[ASN][1000 genomes]
rs12101270	0.94[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12878947	0.90[ASN][1000 genomes]
rs12885068	0.94[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12885683	0.83[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs12887943	0.94[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12889195	0.90[ASN][1000 genomes]
rs12890357	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1459704	0.83[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs17107592	0.84[CEU][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17107610	0.83[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs1998334	0.81[AMR][1000 genomes]
rs227416	0.81[ASN][1000 genomes]
rs227419	0.81[ASN][1000 genomes]
rs227420	0.82[ASN][1000 genomes]
rs227422	0.83[ASN][1000 genomes]
rs227423	0.83[ASN][1000 genomes]
rs227424	0.81[ASN][1000 genomes]
rs227425	0.83[ASN][1000 genomes]
rs227426	0.81[ASN][1000 genomes]
rs227427	0.81[ASN][1000 genomes]
rs227437	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227438	0.81[ASN][1000 genomes]
rs227439	0.81[ASN][1000 genomes]
rs34311408	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3825739	0.94[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55784307	0.81[AMR][1000 genomes]
rs56031625	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56242824	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57609901	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60011612	0.89[AMR][1000 genomes]
rs61305	0.82[ASN][1000 genomes]
rs67294558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7141378	0.89[ASN][1000 genomes]
rs7157226	0.83[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs7160726	0.83[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs72728002	0.81[AMR][1000 genomes]
rs72729803	0.81[AMR][1000 genomes]
rs8012912	0.83[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs8015491	0.91[CHB][hapmap];0.95[JPT][hapmap];0.90[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	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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70433200-70454000	Strong transcription	Liver	Liver
2	chr14:70439000-70458800	Weak transcription	Gastric	stomach
3	chr14:70439800-70477200	Weak transcription	Spleen	Spleen
4	chr14:70447000-70454400	Genic enhancers	Hela-S3	cervix
5	chr14:70447600-70454400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:70448200-70455000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:70449600-70453800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr14:70450000-70458600	Weak transcription	Aorta	Aorta
9	chr14:70450600-70453800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr14:70450600-70453800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr14:70450600-70454000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr14:70450600-70454000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr14:70450600-70456400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:70450600-70457000	Weak transcription	Fetal Brain Male	brain
15	chr14:70450600-70464800	Weak transcription	Fetal Stomach	stomach
16	chr14:70450600-70477200	Weak transcription	Fetal Brain Female	brain
17	chr14:70451800-70459200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr14:70452000-70454000	Strong transcription	HepG2	liver
19	chr14:70452400-70458400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:70452800-70454600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr14:70452800-70460600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr14:70453000-70464800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr14:70453200-70457800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:70453200-70458600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr14:70453200-70462600	Weak transcription	NHEK	skin
26	chr14:70453400-70454000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:70453400-70454000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
28	chr14:70453400-70454200	Enhancers	Brain Anterior Caudate	brain
29	chr14:70453400-70454600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr14:70453400-70454600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr14:70453400-70455000	Enhancers	Brain Hippocampus Middle	brain
32	chr14:70453400-70455200	Enhancers	Brain Substantia Nigra	brain
33	chr14:70453600-70454600	Enhancers	Brain Germinal Matrix	brain
34	chr14:70453600-70455000	Enhancers	Brain Cingulate Gyrus	brain
35	chr14:70453600-70455200	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr14:70453600-70456400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr14:70453600-70462600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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