Variant report

Variant	rs9295357
Chromosome Location	chr6:167054213-167054214
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:167021736..167024085-chr6:167052097..167054804,2	K562	blood:
2	chr6:167044666..167049346-chr6:167050228..167055763,8	K562	blood:
3	chr6:167045626..167049988-chr6:167051387..167056754,6	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10484525	0.95[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12174679	0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs12333059	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1984412	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[YRI][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1984413	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4145431	0.84[TSI][hapmap]
rs62438671	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6456099	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6915668	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6915670	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6941412	0.90[JPT][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7741396	0.94[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7744910	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7749359	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7755114	0.94[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7756763	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs916388	0.80[GIH][hapmap]
rs916390	0.80[GIH][hapmap]
rs9295358	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9347141	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9347142	0.95[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9348156	0.84[TSI][hapmap]
rs9348162	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9348164	0.95[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9356502	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.85[MKK][hapmap];0.80[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9356506	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs9366037	0.95[CEU][hapmap];0.83[GIH][hapmap];0.89[MEX][hapmap];0.81[TSI][hapmap];0.87[EUR][1000 genomes]
rs9457192	0.90[CEU][hapmap];0.83[GIH][hapmap];0.81[TSI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9459708	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs963302	0.90[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	nsv605260	chr6:166984094-167455139	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv432984	chr6:167018915-167181613	Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1023649	chr6:167026469-167060732	Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9295357	RPS6KA2	cis	cerebellum	SCAN

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167043400-167058200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr6:167045000-167061200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:167046600-167054600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr6:167047600-167061200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:167052800-167054600	Enhancers	Fetal Heart	heart
6	chr6:167053000-167054400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:167053000-167054600	Enhancers	Fetal Muscle Leg	muscle
8	chr6:167053200-167054400	Flanking Active TSS	HUVEC	blood vessel
9	chr6:167053400-167054400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:167053400-167054400	Bivalent Enhancer	Primary B cells from cord blood	blood
11	chr6:167053400-167054400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
12	chr6:167053400-167054400	Weak transcription	Spleen	Spleen
13	chr6:167053400-167054600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr6:167053600-167054400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
15	chr6:167053800-167054400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:167053800-167054400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
17	chr6:167053800-167054400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
18	chr6:167053800-167054400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:167053800-167054400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr6:167053800-167054400	Enhancers	HMEC	breast
21	chr6:167053800-167054400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
22	chr6:167053800-167054400	Flanking Active TSS	NHEK	skin
23	chr6:167053800-167054600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr6:167053800-167054600	Bivalent Enhancer	Fetal Lung	lung
25	chr6:167053800-167054600	Bivalent Enhancer	Fetal Thymus	thymus
26	chr6:167054000-167054400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr6:167054000-167054400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr6:167054000-167054400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
29	chr6:167054000-167054400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr6:167054000-167054400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr6:167054000-167054400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr6:167054000-167054400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:167054000-167054400	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr6:167054000-167054400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr6:167054000-167054400	Enhancers	Duodenum Mucosa	Duodenum
36	chr6:167054000-167054400	Flanking Active TSS	Left Ventricle	heart
37	chr6:167054000-167054400	Enhancers	Ovary	ovary
38	chr6:167054000-167054400	Enhancers	Pancreas	Pancrea
39	chr6:167054000-167054400	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr6:167054000-167054400	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr6:167054000-167054400	Enhancers	GM12878-XiMat	blood
42	chr6:167054000-167054600	Enhancers	H1 Cell Line	embryonic stem cell
43	chr6:167054000-167054600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr6:167054000-167054600	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr6:167054000-167054600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:167054000-167055200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr6:167054200-167054400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr6:167054200-167054400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr6:167054200-167054400	Enhancers	Esophagus	oesophagus
50	chr6:167054200-167054400	Enhancers	Lung	lung

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