Variant report

Variant	rs7284593
Chromosome Location	chr22:31449761-31449762
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31448944..31454267-chr22:31475725..31482456,15	MCF-7	breast:
2	chr22:31447674..31449826-chr22:31478695..31480363,2	K562	blood:
3	chr22:31449294..31454779-chr22:31475265..31480255,11	MCF-7	breast:
4	chr22:31368025..31371169-chr22:31447828..31451638,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183963	Chromatin interaction
ENSG00000253352	Chromatin interaction
ENSG00000273387	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10427701	0.95[ASN][1000 genomes]
rs10854603	0.95[ASN][1000 genomes]
rs11705177	0.95[ASN][1000 genomes]
rs11705250	0.95[ASN][1000 genomes]
rs11705313	0.95[ASN][1000 genomes]
rs11705396	0.84[ASN][1000 genomes]
rs12157450	1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12165471	0.97[ASN][1000 genomes]
rs12165786	0.87[EUR][1000 genomes]
rs12168052	0.88[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs12170984	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12330058	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs13057068	0.95[ASN][1000 genomes]
rs2006301	1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2240430	0.84[CHD][hapmap]
rs35060453	0.97[ASN][1000 genomes]
rs5749210	0.84[YRI][hapmap];0.91[AFR][1000 genomes]
rs5753438	0.93[AFR][1000 genomes]
rs5994365	0.93[ASN][1000 genomes]
rs5994366	1.00[JPT][hapmap]
rs5994368	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5994370	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs5997863	0.95[ASN][1000 genomes]
rs5997864	0.95[ASN][1000 genomes]
rs5997866	0.95[ASN][1000 genomes]
rs5997871	0.87[ASN][1000 genomes]
rs5997872	0.84[CHD][hapmap];0.83[ASN][1000 genomes]
rs715297	1.00[JPT][hapmap]
rs7285683	1.00[JPT][hapmap];0.82[MEX][hapmap]
rs7291565	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7292038	0.95[ASN][1000 genomes]
rs7292982	0.82[ASN][1000 genomes]
rs736901	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs9619164	0.87[EUR][1000 genomes]
rs9619166	0.95[ASN][1000 genomes]
rs9619167	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9621175	0.97[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	nsv9896	chr22:31369204-31513933	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv966103	chr22:31410201-31452981	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv524366	chr22:31440703-31480069	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31440000-31453200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr22:31440600-31451000	Weak transcription	Osteobl	bone
3	chr22:31441600-31455000	Enhancers	Fetal Stomach	stomach
4	chr22:31443000-31449800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr22:31443000-31450000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr22:31443000-31450200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr22:31443000-31450800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr22:31443000-31450800	Weak transcription	Colon Smooth Muscle	Colon
9	chr22:31443000-31451000	Weak transcription	A549	lung
10	chr22:31443200-31450800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr22:31443200-31451000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr22:31443200-31451000	Weak transcription	Hela-S3	cervix
13	chr22:31443400-31451200	Weak transcription	Right Ventricle	heart
14	chr22:31443600-31451000	Weak transcription	Ovary	ovary
15	chr22:31443600-31455400	Weak transcription	K562	blood
16	chr22:31445000-31451000	Weak transcription	Right Atrium	heart
17	chr22:31446200-31449800	Weak transcription	Fetal Lung	lung
18	chr22:31446200-31450200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr22:31446200-31450800	Weak transcription	Lung	lung
20	chr22:31446400-31450000	Weak transcription	HepG2	liver
21	chr22:31446400-31451000	Weak transcription	HUVEC	blood vessel
22	chr22:31446600-31451800	Weak transcription	Spleen	Spleen
23	chr22:31447000-31450000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr22:31447000-31450200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr22:31447000-31450200	Weak transcription	Left Ventricle	heart
26	chr22:31447000-31450800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr22:31447000-31451200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr22:31447200-31450800	Weak transcription	Placenta	Placenta
29	chr22:31447200-31451400	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr22:31447400-31450000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr22:31447400-31451000	Weak transcription	Adipose Nuclei	Adipose
32	chr22:31448800-31449800	Enhancers	NHEK	skin
33	chr22:31449000-31451000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr22:31449200-31450800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr22:31449200-31451000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr22:31449200-31451000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr22:31449200-31451200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr22:31449200-31453400	Enhancers	Fetal Muscle Leg	muscle
39	chr22:31449400-31451000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr22:31449400-31451000	Weak transcription	HMEC	breast
41	chr22:31449600-31451000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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