Variant report

Variant	rs7288635
Chromosome Location	chr22:31091633-31091634
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31057579..31060597-chr22:31088878..31091753,3	MCF-7	breast:
2	chr22:30820440..30822751-chr22:31090157..31092444,2	MCF-7	breast:
3	chr22:31062708..31065866-chr22:31088934..31092028,6	MCF-7	breast:
4	chr22:31062803..31066328-chr22:31088733..31092098,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000242114	Chromatin interaction
ENSG00000167065	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11912792	1.00[ASN][1000 genomes]
rs13053290	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[MEX][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13053933	1.00[ASN][1000 genomes]
rs13055490	1.00[ASN][1000 genomes]
rs13055538	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13056984	1.00[ASN][1000 genomes]
rs13433567	1.00[ASN][1000 genomes]
rs136378	1.00[ASN][1000 genomes]
rs136381	1.00[ASN][1000 genomes]
rs136382	1.00[ASN][1000 genomes]
rs136385	1.00[ASN][1000 genomes]
rs136390	1.00[ASN][1000 genomes]
rs28360580	1.00[ASN][1000 genomes]
rs28672875	1.00[ASN][1000 genomes]
rs34360174	1.00[ASN][1000 genomes]
rs34779325	1.00[ASN][1000 genomes]
rs34961431	1.00[ASN][1000 genomes]
rs35137429	1.00[ASN][1000 genomes]
rs35384996	1.00[ASN][1000 genomes]
rs5994332	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs7290980	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[MEX][hapmap];0.85[TSI][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs740234	1.00[CHD][hapmap]
rs757874	1.00[CHD][hapmap]
rs9621096	1.00[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	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv3356283	chr22:31089477-31092325	Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	esv3428599	chr22:31089827-31092000	Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7288635	DUSP18	cis	Whole Blood	GTEx
rs7288635	FBXO7	cis	cerebellum	SCAN
rs7288635	CTA-963H5.5	cis	Whole Blood	GTEx
rs7288635	DUSP18	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31089800-31091800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
2	chr22:31089800-31092000	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr22:31090000-31091800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr22:31090000-31091800	Active TSS	Brain Cingulate Gyrus	brain
5	chr22:31090200-31091800	Active TSS	Primary T killer memory cells from peripheral blood	blood
6	chr22:31090200-31092200	Active TSS	Brain Angular Gyrus	brain
7	chr22:31090800-31091800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr22:31091000-31091800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr22:31091000-31091800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr22:31091000-31091800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr22:31091000-31091800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr22:31091000-31091800	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr22:31091000-31091800	Flanking Active TSS	Rectal Smooth Muscle	rectum
14	chr22:31091000-31091800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
15	chr22:31091000-31092000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
16	chr22:31091000-31092000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
17	chr22:31091000-31092400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr22:31091200-31091800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr22:31091200-31091800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
20	chr22:31091200-31091800	Flanking Active TSS	Fetal Intestine Small	intestine
21	chr22:31091200-31091800	Flanking Active TSS	Pancreas	Pancrea
22	chr22:31091200-31091800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
23	chr22:31091200-31091800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
24	chr22:31091200-31092000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr22:31091200-31092000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr22:31091200-31092000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr22:31091200-31092200	Flanking Active TSS	Fetal Brain Female	brain
28	chr22:31091200-31092400	Flanking Active TSS	Fetal Brain Male	brain
29	chr22:31091400-31091800	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr22:31091400-31091800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
31	chr22:31091400-31091800	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr22:31091400-31091800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr22:31091400-31091800	Flanking Active TSS	Gastric	stomach
34	chr22:31091400-31091800	Enhancers	Psoas Muscle	Psoas
35	chr22:31091400-31091800	Enhancers	Right Ventricle	heart
36	chr22:31091400-31092000	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr22:31091400-31092400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr22:31091400-31092400	Flanking Active TSS	Brain Substantia Nigra	brain
39	chr22:31091400-31092600	Flanking Active TSS	Brain Hippocampus Middle	brain
40	chr22:31091400-31092600	Flanking Active TSS	NHDF-Ad	bronchial
41	chr22:31091400-31093000	Weak transcription	K562	blood
42	chr22:31091400-31094800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr22:31091600-31091800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
44	chr22:31091600-31091800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
45	chr22:31091600-31091800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
46	chr22:31091600-31091800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr22:31091600-31091800	Active TSS	Muscle Satellite Cultured Cells	--
48	chr22:31091600-31091800	Enhancers	Colonic Mucosa	Colon
49	chr22:31091600-31091800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
50	chr22:31091600-31091800	Bivalent Enhancer	Fetal Lung	lung

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