Variant report

Variant	rs7284757
Chromosome Location	chr22:31522064-31522065
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31519081..31520607-chr22:31520876..31523639,2	MCF-7	breast:
2	chr22:31520871..31523261-chr22:31529734..31531376,2	MCF-7	breast:
3	chr22:31516943..31520253-chr22:31521243..31524070,4	K562	blood:
4	chr22:31521352..31522863-chr22:31533988..31536377,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185133	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1004243	0.87[CEU][hapmap];0.86[GIH][hapmap];0.89[MEX][hapmap]
rs11089487	0.82[CEU][hapmap]
rs11089488	0.93[EUR][1000 genomes]
rs11703478	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12330010	0.92[EUR][1000 genomes]
rs12484046	0.91[CEU][hapmap]
rs13054770	0.93[EUR][1000 genomes]
rs1558023	0.91[CEU][hapmap]
rs2079429	0.80[EUR][1000 genomes]
rs2229875	1.00[CHB][hapmap]
rs2413027	1.00[CHB][hapmap]
rs35413173	0.81[EUR][1000 genomes]
rs35657209	0.93[EUR][1000 genomes]
rs35685997	0.92[EUR][1000 genomes]
rs4820934	0.87[CEU][hapmap]
rs7285617	0.95[CEU][hapmap];0.85[AMR][1000 genomes]
rs737930	0.91[CEU][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap]
rs740231	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs8135353	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs8137317	1.00[CHB][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9609160	1.00[YRI][hapmap]
rs9609163	1.00[YRI][hapmap]
rs9609168	1.00[YRI][hapmap]
rs9619163	0.91[CEU][hapmap]
rs9621178	0.82[EUR][1000 genomes]
rs9621184	0.95[CEU][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes]
rs9621185	0.95[CEU][hapmap];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829173	chr22:31450043-31543956	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv914976	chr22:31475307-31543260	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7284757	CHEK2	cis	cerebellum	SCAN
rs7284757	CCDC117	cis	parietal	SCAN
rs7284757	SELM	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31519200-31527600	Weak transcription	Esophagus	oesophagus
2	chr22:31519200-31532600	Weak transcription	Ovary	ovary
3	chr22:31519400-31522800	Weak transcription	K562	blood
4	chr22:31519400-31535400	Weak transcription	Lung	lung
5	chr22:31519600-31522600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr22:31519600-31522600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr22:31519600-31522800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr22:31519600-31522800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr22:31519600-31522800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr22:31519600-31523200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr22:31519600-31523200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr22:31519600-31523400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr22:31519600-31536000	Weak transcription	Brain Germinal Matrix	brain
14	chr22:31519800-31522400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr22:31519800-31522600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr22:31519800-31522600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr22:31519800-31524200	Weak transcription	Left Ventricle	heart
18	chr22:31519800-31525600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr22:31519800-31527600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr22:31519800-31528800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr22:31519800-31531600	Weak transcription	Brain Anterior Caudate	brain
22	chr22:31519800-31532000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr22:31519800-31532800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr22:31519800-31536000	Weak transcription	Gastric	stomach
25	chr22:31520000-31524000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr22:31520000-31527600	Weak transcription	Stomach Mucosa	stomach
27	chr22:31520000-31531200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr22:31520000-31533200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr22:31520200-31523200	Weak transcription	Colonic Mucosa	Colon
30	chr22:31520200-31524000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr22:31520200-31535800	Weak transcription	Fetal Brain Female	brain
32	chr22:31520400-31524200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr22:31520400-31538800	Weak transcription	Right Atrium	heart
34	chr22:31520600-31524000	Weak transcription	Fetal Intestine Large	intestine
35	chr22:31520600-31524400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr22:31520800-31532000	Strong transcription	Fetal Intestine Small	intestine
37	chr22:31521000-31522200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr22:31521200-31524000	Weak transcription	Right Ventricle	heart
39	chr22:31521200-31526800	Weak transcription	Pancreas	Pancrea
40	chr22:31522000-31523800	Enhancers	Primary B cells from peripheral blood	blood
41	chr22:31522000-31524200	Enhancers	Spleen	Spleen

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