Variant report

Variant	rs10231884
Chromosome Location	chr7:79084800-79084801
allele	A/G
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	chr7:79084373-79085015	PFSK-1	brain:	n/a	n/a
2	MXI1	chr7:79080042-79084898	SK-N-SH	brain:	n/a	n/a
3	MAZ	chr7:79080885-79084852	IMR90	lung:	n/a	chr7:79083803-79083813
4	ZNF263	chr7:79081100-79085959	HEK293-T-REx	kidney:	n/a	chr7:79083163-79083172 chr7:79081619-79081628 chr7:79085459-79085468 chr7:79083175-79083184 chr7:79083164-79083185 chr7:79082994-79083003 chr7:79081426-79081435
5	POLR2A	chr7:79084718-79085614	PFSK-1	brain:	n/a	n/a

Variant related genes	Relation type
MAGI2	TF binding region
MAGI2-AS3	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10226488	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10258595	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4730832	0.83[CHD][hapmap];0.86[GIH][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs4730857	0.88[MEX][hapmap]

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	nsv464598	chr7:78492642-79483480	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv607659	chr7:78492642-79483480	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv2764028	chr7:78874740-79112630	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv888515	chr7:78987060-79221707	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv427792	chr7:79039802-79253373	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv970902	chr7:79046674-79175610	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10231884	DTX2	cis	parietal	SCAN

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79081000-79084800	Active TSS	Aorta	Aorta
2	chr7:79081000-79084800	Active TSS	Right Atrium	heart
3	chr7:79081400-79086200	Active TSS	Fetal Kidney	kidney
4	chr7:79082800-79084800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:79082800-79084800	Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr7:79083800-79084800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:79083800-79085000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr7:79084000-79085000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:79084000-79085000	Flanking Active TSS	Fetal Lung	lung
10	chr7:79084000-79085600	Flanking Active TSS	Colon Smooth Muscle	Colon
11	chr7:79084000-79085800	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr7:79084000-79086000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:79084200-79084800	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr7:79084200-79084800	Active TSS	Rectal Mucosa Donor 31	rectum
15	chr7:79084200-79085000	Active TSS	Fetal Brain Female	brain
16	chr7:79084200-79085000	Enhancers	Fetal Heart	heart
17	chr7:79084200-79085000	Flanking Active TSS	Osteobl	bone
18	chr7:79084200-79085400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:79084200-79085400	Weak transcription	Esophagus	oesophagus
20	chr7:79084200-79091200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:79084400-79084800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:79084400-79084800	Weak transcription	Lung	lung
23	chr7:79084400-79084800	Enhancers	HSMM	muscle
24	chr7:79084400-79085000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:79084400-79085000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr7:79084400-79085000	Flanking Active TSS	Brain Angular Gyrus	brain
27	chr7:79084400-79085000	Flanking Active TSS	Brain Anterior Caudate	brain
28	chr7:79084400-79085000	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr7:79084400-79085000	Enhancers	Fetal Muscle Leg	muscle
30	chr7:79084400-79085000	Enhancers	Fetal Stomach	stomach
31	chr7:79084400-79085000	Enhancers	Right Ventricle	heart
32	chr7:79084400-79085000	Flanking Active TSS	HepG2	liver
33	chr7:79084400-79085400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:79084400-79085400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:79084400-79085400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
36	chr7:79084400-79085400	Weak transcription	Fetal Muscle Trunk	muscle
37	chr7:79084400-79085800	Flanking Active TSS	Brain Substantia Nigra	brain
38	chr7:79084400-79086000	Weak transcription	Fetal Brain Male	brain
39	chr7:79084400-79086200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:79084400-79086200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr7:79084400-79088200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:79084400-79089000	Weak transcription	NH-A	brain
43	chr7:79084400-79095000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr7:79084400-79102200	Weak transcription	Left Ventricle	heart
45	chr7:79084600-79084800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
46	chr7:79084600-79084800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr7:79084600-79084800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr7:79084600-79084800	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr7:79084600-79084800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr7:79084600-79084800	Flanking Active TSS	Brain Cingulate Gyrus	brain

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