Variant report

Variant	rs10503395
Chromosome Location	chr8:8900572-8900573
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1016512	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1045527	1.00[CHD][hapmap]
rs1045528	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11249899	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12679527	1.00[ASN][1000 genomes]
rs13249731	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13250674	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13250919	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13258661	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13260103	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13261370	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13263480	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13271797	1.00[CHD][hapmap]
rs13273769	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13273871	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13274157	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13276286	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13276537	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13281029	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1430931	1.00[CEU][hapmap];0.88[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17155162	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2044389	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28393746	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28405982	1.00[ASN][1000 genomes]
rs28516774	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28534948	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28812315	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2956245	1.00[ASN][1000 genomes]
rs2979269	1.00[YRI][hapmap]
rs34111588	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34334157	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34391124	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34412730	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34418902	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34712023	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34752993	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34854114	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35227233	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35616716	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35808561	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3958881	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841088	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841092	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55634245	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55696609	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60519586	1.00[ASN][1000 genomes]
rs66483157	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66869483	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67139167	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67259528	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs67434672	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67575865	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67958495	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs68043139	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6985908	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6989707	0.93[CEU][hapmap];1.00[CHB][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990134	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6993811	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6994214	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6994551	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7008080	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7012302	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71514525	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs71514527	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73195799	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73197711	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73197712	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7387683	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7816149	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7816450	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9650616	1.00[CHD][hapmap]
rs9650628	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv831229	chr8:8751523-8926235	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10503395	PPP1R3B	cis	parietal	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8861400-8907000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:8861800-8915600	Weak transcription	Pancreas	Pancrea
3	chr8:8875400-8901200	Weak transcription	Thymus	Thymus
4	chr8:8877000-8903400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:8883600-8902400	Weak transcription	Adipose Nuclei	Adipose
6	chr8:8883800-8906000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr8:8884000-8906200	Weak transcription	Psoas Muscle	Psoas
8	chr8:8888400-8910800	Weak transcription	Hela-S3	cervix
9	chr8:8891000-8914800	Weak transcription	Fetal Stomach	stomach
10	chr8:8891400-8915200	Weak transcription	K562	blood
11	chr8:8892000-8901800	Weak transcription	Primary B cells from cord blood	blood
12	chr8:8893800-8913800	Weak transcription	Primary T cells from cord blood	blood
13	chr8:8897800-8902400	Enhancers	Placenta Amnion	Placenta Amnion
14	chr8:8898000-8902000	Weak transcription	GM12878-XiMat	blood
15	chr8:8898600-8905200	Weak transcription	Fetal Muscle Leg	muscle
16	chr8:8898600-8908800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr8:8898800-8903800	Weak transcription	Fetal Heart	heart
18	chr8:8898800-8907200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr8:8899000-8919200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr8:8899800-8902600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:8899800-8907200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:8900000-8900600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:8900000-8900600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr8:8900000-8907000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr8:8900000-8907200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr8:8900200-8900800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:8900200-8902200	Weak transcription	Placenta	Placenta
28	chr8:8900200-8903200	Enhancers	NHEK	skin
29	chr8:8900200-8903800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr8:8900400-8900600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:8900400-8901200	Enhancers	HMEC	breast
32	chr8:8900400-8903600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr8:8900400-8905600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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