Variant report

Variant	rs16970692
Chromosome Location	chr16:72232762-72232763
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	chr16:72231856..72234002-chr16:72234236..72237028,2	MCF-7	breast:
2	chr16:72218425..72220336-chr16:72232606..72234720,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10492816	0.95[ASN][1000 genomes]
rs12325274	0.93[ASN][1000 genomes]
rs12447857	0.89[ASN][1000 genomes]
rs12928732	0.89[GIH][hapmap]
rs16970670	0.93[ASN][1000 genomes]
rs34508528	0.93[ASN][1000 genomes]
rs35959677	0.86[ASN][1000 genomes]
rs61452478	0.81[AFR][1000 genomes]
rs66929555	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7185448	0.86[ASN][1000 genomes]
rs7186908	0.94[ASN][1000 genomes]
rs7198572	0.91[GIH][hapmap]
rs7202323	0.94[ASN][1000 genomes]
rs7203307	0.87[ASN][1000 genomes]
rs8054585	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs9923575	0.94[ASN][1000 genomes]
rs9931993	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9937351	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS 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	89 gene(s)	inside rSNPs	diseases
2	esv2758430	chr16:71976344-72274347	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	esv2758654	chr16:71976344-72274347	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv428329	chr16:71976344-72274347	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv1060983	chr16:72074832-72791629	Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
6	nsv534588	chr16:72078262-72287230	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv1060804	chr16:72078486-72791629	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
8	nsv1059599	chr16:72219769-72342170	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1066473	chr16:72229094-72373598	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16970692	DHX38	cis	lymphoblastoid	seeQTL

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72214800-72232800	Weak transcription	Pancreas	Pancrea
2	chr16:72222000-72235800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr16:72223000-72236400	Weak transcription	Primary B cells from cord blood	blood
4	chr16:72228600-72236600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr16:72228800-72236600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr16:72229200-72232800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr16:72229200-72234400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr16:72229200-72240200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr16:72230400-72232800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr16:72231000-72233200	Enhancers	Fetal Stomach	stomach
11	chr16:72231000-72234200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr16:72231000-72234600	Enhancers	Fetal Lung	lung
13	chr16:72231200-72233000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr16:72231200-72233200	Enhancers	Fetal Muscle Trunk	muscle
15	chr16:72231200-72234000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr16:72231400-72232800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr16:72231400-72233000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr16:72231400-72233000	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr16:72231400-72233200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr16:72231400-72233200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr16:72231400-72234000	Enhancers	Fetal Muscle Leg	muscle
22	chr16:72231800-72233200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr16:72232000-72233000	Weak transcription	Right Atrium	heart
24	chr16:72232000-72234000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr16:72232000-72234200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr16:72232000-72236600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr16:72232200-72232800	Active TSS	Brain Cingulate Gyrus	brain
28	chr16:72232200-72236000	Enhancers	Fetal Brain Male	brain
29	chr16:72232400-72232800	Enhancers	Brain Anterior Caudate	brain
30	chr16:72232400-72233200	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr16:72232400-72237000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr16:72232600-72232800	Enhancers	Brain Hippocampus Middle	brain
33	chr16:72232600-72232800	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr16:72232600-72233400	Enhancers	Brain Germinal Matrix	brain
35	chr16:72232600-72234600	Enhancers	Brain Angular Gyrus	brain
36	chr16:72232600-72234600	Enhancers	Brain Substantia Nigra	brain
37	chr16:72232600-72235400	Enhancers	Fetal Brain Female	brain
38	chr16:72232600-72236000	Weak transcription	NHDF-Ad	bronchial

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