Variant report

Variant	rs10042752
Chromosome Location	chr5:52294551-52294552
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:52288695..52291271-chr5:52292952..52294743,2	MCF-7	breast:
2	chr5:52285803..52288356-chr5:52293284..52295985,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249899	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10058636	0.91[ASN][1000 genomes]
rs10061730	0.85[ASW][hapmap];0.81[CEU][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes]
rs10065796	1.00[JPT][hapmap]
rs10071255	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10071580	0.97[ASN][1000 genomes]
rs10073544	1.00[JPT][hapmap]
rs11948978	0.97[ASN][1000 genomes]
rs12523395	0.82[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap]
rs1421941	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16880636	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1862639	0.81[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.81[LWK][hapmap];0.80[YRI][hapmap];0.97[ASN][1000 genomes]
rs3212402	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3212412	0.97[ASN][1000 genomes]
rs3212417	0.97[ASN][1000 genomes]
rs3212627	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs55783963	0.97[ASN][1000 genomes]
rs67217308	0.97[ASN][1000 genomes]
rs67835512	0.97[ASN][1000 genomes]
rs6883028	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9292002	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9292003	0.86[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv462187	chr5:51758804-52333420	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv598163	chr5:51758804-52333420	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv471013	chr5:51779197-52339114	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv830296	chr5:52209528-52410253	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv880425	chr5:52291279-52345868	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10042752	DHX29	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52286200-52295400	Weak transcription	Pancreas	Pancrea
2	chr5:52286200-52300400	Weak transcription	Gastric	stomach
3	chr5:52286200-52303400	Weak transcription	Small Intestine	intestine
4	chr5:52286200-52313600	Weak transcription	Lung	lung
5	chr5:52286600-52300000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:52286600-52302400	Weak transcription	Fetal Stomach	stomach
7	chr5:52286800-52298800	Weak transcription	Fetal Intestine Large	intestine
8	chr5:52287000-52299400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr5:52289200-52311600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:52289400-52295600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:52290000-52299800	Weak transcription	NH-A	brain
12	chr5:52291000-52295600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:52292200-52295600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:52292400-52294800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:52292400-52295200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:52292400-52299200	Weak transcription	Esophagus	oesophagus
17	chr5:52292400-52301000	Weak transcription	Spleen	Spleen
18	chr5:52292400-52303200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr5:52292600-52294600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr5:52292600-52294800	Weak transcription	Hela-S3	cervix
21	chr5:52293200-52295800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:52293400-52295600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:52293400-52295800	Enhancers	Brain Anterior Caudate	brain
24	chr5:52293600-52295000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:52293600-52295400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr5:52293600-52295600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr5:52293600-52295600	Genic enhancers	NHEK	skin
28	chr5:52293600-52297400	Weak transcription	HUVEC	blood vessel
29	chr5:52293600-52304000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr5:52293800-52294800	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
31	chr5:52293800-52296000	Enhancers	A549	lung
32	chr5:52293800-52298800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:52293800-52299200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr5:52293800-52313400	Weak transcription	Fetal Intestine Small	intestine
35	chr5:52294000-52296400	Enhancers	Brain Substantia Nigra	brain
36	chr5:52294200-52295600	Enhancers	Brain Cingulate Gyrus	brain
37	chr5:52294200-52296400	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr5:52294200-52297400	Enhancers	Brain Hippocampus Middle	brain
39	chr5:52294200-52301200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr5:52294400-52294600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:52294400-52294600	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr5:52294400-52294600	Enhancers	Stomach Smooth Muscle	stomach
43	chr5:52294400-52294600	Enhancers	Osteobl	bone
44	chr5:52294400-52295000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr5:52294400-52295000	Enhancers	HMEC	breast
46	chr5:52294400-52295200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr5:52294400-52295400	Enhancers	Brain Angular Gyrus	brain
48	chr5:52294400-52295600	Genic enhancers	NHLF	lung
49	chr5:52294400-52296000	Enhancers	NHDF-Ad	bronchial
50	chr5:52294400-52297200	Genic enhancers	HepG2	liver

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