Variant report

Variant	rs2286270
Chromosome Location	chr7:21805419-21805420
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:21798369..21801038-chr7:21803838..21806561,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10156149	0.81[JPT][hapmap]
rs10241767	0.85[CEU][hapmap];0.85[MEX][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes]
rs10281087	0.85[CEU][hapmap]
rs10485976	0.80[JPT][hapmap]
rs11761026	0.89[CEU][hapmap]
rs11761422	0.82[CEU][hapmap]
rs11764949	0.80[MEX][hapmap]
rs17145261	0.81[JPT][hapmap]
rs17145274	0.81[JPT][hapmap]
rs17145312	0.93[JPT][hapmap]
rs17357735	0.81[CEU][hapmap]
rs17358098	0.82[CEU][hapmap]
rs1859102	0.85[CEU][hapmap];0.87[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1989904	0.87[JPT][hapmap]
rs1989906	0.87[JPT][hapmap]
rs2189020	0.85[MEX][hapmap]
rs4722055	0.96[CEU][hapmap];0.86[CHB][hapmap];0.91[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6949611	0.81[ASW][hapmap]
rs6967362	0.82[CEU][hapmap]
rs6978982	0.80[AFR][1000 genomes]
rs7793192	0.87[JPT][hapmap]
rs7793481	0.85[MEX][hapmap];0.84[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018133	chr7:21740118-22055283	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1016063	chr7:21740433-21808410	Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv830922	chr7:21793386-21964675	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv470177	chr7:21801125-21817048	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2286270	NPY	cis	parietal	SCAN
rs2286270	SP8	cis	cerebellum	SCAN
rs2286270	MGC87042	cis	cerebellum	SCAN
rs2286270	ABCB5	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21796600-21810000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr7:21803400-21808000	Enhancers	Fetal Heart	heart
3	chr7:21804000-21805800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr7:21804000-21808000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr7:21804200-21805600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr7:21804200-21805600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:21804600-21805600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr7:21804800-21805600	Enhancers	H9 Cell Line	embryonic stem cell
9	chr7:21804800-21805800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr7:21804800-21806600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:21805000-21805600	Bivalent Enhancer	Fetal Brain Male	brain
12	chr7:21805000-21805600	Bivalent Enhancer	Left Ventricle	heart
13	chr7:21805000-21806200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:21805000-21806200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:21805200-21805600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:21805200-21805600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr7:21805200-21805600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:21805200-21806000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:21805200-21810000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:21805400-21805600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:21805400-21805600	Enhancers	Brain Cingulate Gyrus	brain
22	chr7:21805400-21810200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr7:21805400-21810600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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