Variant report

Variant	rs942076
Chromosome Location	chr10:112590398-112590399
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:112590132-112590981	K562	blood:	n/a	n/a
2	FOXA1	chr10:112590229-112590510	HepG2	liver:	n/a	chr10:112590384-112590396 chr10:112590343-112590355 chr10:112590380-112590392

No.	Distal block	Cell Line	Cell type
1	chr10:112579505..112583802-chr10:112587400..112591373,5	MCF-7	breast:
2	chr10:112587964..112590825-chr10:112590840..112592788,2	K562	blood:
3	chr10:112589697..112592145-chr10:112622610..112625288,3	MCF-7	breast:
4	chr10:112582540..112585422-chr10:112589787..112595688,6	MCF-7	breast:
5	chr10:112590158..112593490-chr10:112605615..112607269,3	K562	blood:

Variant related genes	Relation type
RBM20	TF binding region
ENSG00000203867	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10787283	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10885052	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10885053	0.92[EUR][1000 genomes]
rs10885054	0.91[EUR][1000 genomes]
rs10885055	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12261853	0.82[ASN][1000 genomes]
rs1923807	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3950000	0.85[ASN][1000 genomes]
rs4525160	0.83[ASN][1000 genomes]
rs4918595	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4918598	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4918599	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4918600	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4918601	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7072681	0.80[AMR][1000 genomes]
rs726803	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs726804	0.84[ASN][1000 genomes]
rs7922732	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045608	chr10:112524813-112677557	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1041758	chr10:112552897-112677557	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv467455	chr10:112579299-112612471	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv552172	chr10:112579299-112612471	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv896003	chr10:112579299-112631211	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv896002	chr10:112579299-112638028	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv1051566	chr10:112580049-112730573	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs942076	PDCD4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:112572600-112593800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr10:112577200-112590800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:112577800-112593400	Weak transcription	Thymus	Thymus
4	chr10:112578800-112592400	Weak transcription	Primary T cells from cord blood	blood
5	chr10:112582600-112593000	Weak transcription	K562	blood
6	chr10:112582600-112593400	Weak transcription	Gastric	stomach
7	chr10:112583200-112593400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr10:112583400-112593800	Weak transcription	Fetal Kidney	kidney
9	chr10:112583400-112594400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr10:112583400-112594800	Weak transcription	Fetal Brain Female	brain
11	chr10:112584400-112592400	Weak transcription	Stomach Mucosa	stomach
12	chr10:112584600-112594000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr10:112584600-112594000	Weak transcription	Small Intestine	intestine
14	chr10:112585600-112593800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr10:112585600-112594200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr10:112586800-112590600	Enhancers	Fetal Stomach	stomach
17	chr10:112587600-112591200	Enhancers	Esophagus	oesophagus
18	chr10:112587800-112592600	Weak transcription	Lung	lung
19	chr10:112587800-112593400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr10:112588000-112590800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr10:112588000-112597200	Weak transcription	Adipose Nuclei	Adipose
22	chr10:112588200-112590400	Weak transcription	Pancreas	Pancrea
23	chr10:112588200-112591000	Enhancers	Fetal Thymus	thymus
24	chr10:112588200-112592600	Weak transcription	Psoas Muscle	Psoas
25	chr10:112588200-112593400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr10:112588200-112593600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr10:112588200-112601600	Weak transcription	Brain Anterior Caudate	brain
28	chr10:112588400-112590800	Weak transcription	Aorta	Aorta
29	chr10:112588400-112593000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr10:112588400-112593600	Weak transcription	Fetal Lung	lung
31	chr10:112588400-112594000	Weak transcription	Colonic Mucosa	Colon
32	chr10:112588600-112590400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr10:112588600-112593600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr10:112588600-112594000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr10:112588800-112590600	Enhancers	Fetal Heart	heart
36	chr10:112588800-112591400	Strong transcription	HSMMtube	muscle
37	chr10:112589000-112591400	Strong transcription	Fetal Muscle Leg	muscle
38	chr10:112589000-112594200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr10:112589200-112590600	Strong transcription	Right Ventricle	heart
40	chr10:112589200-112591200	Bivalent Enhancer	HepG2	liver
41	chr10:112589200-112592800	Weak transcription	Ovary	ovary
42	chr10:112589400-112590400	Enhancers	Primary B cells from cord blood	blood
43	chr10:112589400-112590600	Strong transcription	Left Ventricle	heart
44	chr10:112589400-112591000	Enhancers	Primary B cells from peripheral blood	blood
45	chr10:112589400-112592400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr10:112589600-112591200	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr10:112589600-112591400	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr10:112589600-112592600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr10:112589600-112593400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr10:112589600-112593800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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