Variant report

Variant	rs2922066
Chromosome Location	chr8:99901622-99901623
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99901588..99905198-chr8:99953796..99957800,4	MCF-7	breast:
2	chr8:99900255..99902088-chr8:99919103..99920638,2	MCF-7	breast:
3	chr8:99901039..99903111-chr8:100022856..100025470,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253948	Chromatin interaction
ENSG00000164920	Chromatin interaction
ENSG00000104375	Chromatin interaction
ENSG00000271930	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10447977	0.95[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.84[AMR][1000 genomes]
rs11774463	1.00[MEX][hapmap];0.90[TSI][hapmap]
rs11778767	0.86[CHB][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap]
rs11780500	0.86[CHB][hapmap];0.83[MEX][hapmap];0.80[TSI][hapmap]
rs12114834	0.91[CHB][hapmap];0.91[CHD][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap]
rs12541317	0.85[CHB][hapmap]
rs12547297	0.95[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes]
rs12547301	0.90[ASW][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap]
rs12547849	0.83[GIH][hapmap]
rs12679734	0.91[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes]
rs12680195	0.81[CHB][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.80[AMR][1000 genomes]
rs13275915	0.95[MEX][hapmap];0.85[TSI][hapmap]
rs1447245	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1476181	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs1961744	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2028975	0.82[EUR][1000 genomes]
rs2442012	0.80[AMR][1000 genomes]
rs2442013	0.81[EUR][1000 genomes]
rs2442014	0.80[AMR][1000 genomes]
rs2515214	0.91[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap]
rs2515216	0.87[TSI][hapmap]
rs2515221	0.82[EUR][1000 genomes]
rs2515225	0.81[EUR][1000 genomes]
rs2922068	0.81[JPT][hapmap]
rs2922073	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2922074	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2922075	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2922076	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2922078	0.91[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2922081	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2922082	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2922084	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3019286	0.99[ASN][1000 genomes]
rs3019290	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3019291	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3019293	0.81[AMR][1000 genomes]
rs34281206	0.84[AMR][1000 genomes]
rs34366206	0.95[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap]
rs35536167	0.84[AMR][1000 genomes]
rs35798019	0.86[CHB][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap]
rs35915594	0.80[AMR][1000 genomes]
rs4131873	0.95[MEX][hapmap];0.90[TSI][hapmap]
rs4255105	0.91[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes]
rs4260868	0.82[ASW][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap]
rs4279561	0.95[MEX][hapmap];0.85[TSI][hapmap]
rs4292660	0.91[JPT][hapmap];0.83[MEX][hapmap];0.84[TSI][hapmap]
rs4304299	0.80[AMR][1000 genomes]
rs4413739	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs4489303	1.00[YRI][hapmap]
rs4520132	0.90[ASW][hapmap];0.83[GIH][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap]
rs4549741	0.95[MEX][hapmap];0.85[TSI][hapmap]
rs4562286	0.91[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap]
rs4734417	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4735574	0.95[MEX][hapmap];0.85[TSI][hapmap]
rs57034072	0.80[AMR][1000 genomes]
rs62535412	0.80[AMR][1000 genomes]
rs6988087	0.84[TSI][hapmap]
rs7827435	0.91[JPT][hapmap]
rs7838239	0.86[CHB][hapmap]
rs7845271	0.91[JPT][hapmap];0.83[MEX][hapmap];0.81[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	nsv891218	chr8:99507313-99906221	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1027025	chr8:99672977-100115315	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv539690	chr8:99672977-100115315	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2922066	OSR2	cis	cerebellum	SCAN
rs2922066	STK3	cis	parietal	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99897600-99913800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:99899800-99905400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr8:99900000-99904600	Enhancers	Rectal Smooth Muscle	rectum
4	chr8:99900000-99904800	Enhancers	Fetal Muscle Leg	muscle
5	chr8:99900000-99904800	Enhancers	Fetal Stomach	stomach
6	chr8:99900600-99904000	Enhancers	Fetal Lung	lung
7	chr8:99900600-99905000	Enhancers	Liver	Liver
8	chr8:99900800-99902000	Enhancers	Adipose Nuclei	Adipose
9	chr8:99900800-99902000	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr8:99900800-99902200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:99900800-99902200	Enhancers	Fetal Heart	heart
12	chr8:99900800-99902600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:99901000-99901800	Flanking Active TSS	Colon Smooth Muscle	Colon
14	chr8:99901000-99902000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr8:99901000-99902000	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr8:99901000-99902400	Enhancers	Right Atrium	heart
17	chr8:99901000-99904400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:99901200-99901800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:99901200-99902000	Flanking Active TSS	K562	blood
20	chr8:99901200-99902600	Weak transcription	Fetal Kidney	kidney
21	chr8:99901400-99903000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr8:99901400-99903000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr8:99901400-99903200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr8:99901600-99902000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr8:99901600-99902600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr8:99901600-99903000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:99901600-99903200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr8:99901600-99903400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr8:99901600-99905000	Enhancers	Ovary	ovary

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