Variant report

Variant	rs1045528
Chromosome Location	chr8:8890079-8890080
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8866297..8868833-chr8:8887524..8890339,2	K562	blood:

Extended variants
information (count: 79 )
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];0.86[GIH][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1045527	1.00[CHD][hapmap]
rs10503395	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];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13250674	0.80[EUR][1000 genomes]
rs13250919	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.82[MEX][hapmap];0.83[MKK][hapmap];0.87[TSI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13258661	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13260103	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13261370	0.82[EUR][1000 genomes]
rs13263480	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13271797	1.00[CHD][hapmap]
rs13273769	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13273871	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13274157	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13276286	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13276537	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13281029	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1430931	1.00[CEU][hapmap];0.88[YRI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17155162	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2044389	0.85[EUR][1000 genomes]
rs28393746	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28405982	1.00[ASN][1000 genomes]
rs28516774	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28534948	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28812315	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2956245	1.00[ASN][1000 genomes]
rs2979269	0.89[YRI][hapmap]
rs34111588	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34334157	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34391124	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34412730	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34418902	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34712023	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34752993	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34854114	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35227233	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35616716	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35808561	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3958881	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841088	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841092	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55634245	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55696609	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60519586	1.00[ASN][1000 genomes]
rs66483157	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66869483	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67139167	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67259528	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs67434672	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67575865	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67958495	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs68043139	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6985908	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6989707	0.92[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990134	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6993811	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6994214	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6994551	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7008080	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7012302	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71514525	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71514527	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73195799	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73197711	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73197712	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7387683	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7816149	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[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];0.98[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];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv610205	chr8:8799111-8891644	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	n/a
5	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
6	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
7	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
rs1045528	PPP1R3B	cis	parietal	SCAN

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8861200-8892400	Weak transcription	Aorta	Aorta
2	chr8:8861400-8907000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:8861800-8891400	Weak transcription	Brain Angular Gyrus	brain
4	chr8:8861800-8891800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr8:8861800-8892000	Weak transcription	Brain Anterior Caudate	brain
6	chr8:8861800-8892200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr8:8861800-8892200	Weak transcription	Ovary	ovary
8	chr8:8861800-8893800	Weak transcription	Fetal Brain Male	brain
9	chr8:8861800-8897800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:8861800-8915600	Weak transcription	Pancreas	Pancrea
11	chr8:8870600-8892200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr8:8871200-8900000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:8871400-8892800	Weak transcription	HSMMtube	muscle
14	chr8:8871800-8894400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr8:8872000-8891200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr8:8875000-8891200	Weak transcription	Fetal Intestine Small	intestine
17	chr8:8875200-8897200	Weak transcription	Gastric	stomach
18	chr8:8875400-8890200	Weak transcription	Fetal Stomach	stomach
19	chr8:8875400-8892600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr8:8875400-8894400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:8875400-8897000	Weak transcription	Lung	lung
22	chr8:8875400-8901200	Weak transcription	Thymus	Thymus
23	chr8:8875600-8890200	Weak transcription	HSMM	muscle
24	chr8:8875800-8892200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr8:8876400-8898000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr8:8876800-8891400	Weak transcription	Fetal Brain Female	brain
27	chr8:8877000-8894600	Weak transcription	HMEC	breast
28	chr8:8877000-8895600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr8:8877000-8903400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr8:8877200-8895400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:8878600-8890200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr8:8878800-8890200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr8:8879200-8892600	Weak transcription	Osteobl	bone
34	chr8:8879400-8894200	Weak transcription	HepG2	liver
35	chr8:8880600-8890200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:8881000-8900400	Weak transcription	NH-A	brain
37	chr8:8881200-8892000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:8881600-8891400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:8882200-8896400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:8882600-8894600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr8:8882600-8894600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr8:8883000-8893200	Weak transcription	Primary B cells from peripheral blood	blood
43	chr8:8883200-8898400	Weak transcription	Fetal Kidney	kidney
44	chr8:8883600-8902400	Weak transcription	Adipose Nuclei	Adipose
45	chr8:8883800-8891000	Weak transcription	Stomach Mucosa	stomach
46	chr8:8883800-8892200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr8:8883800-8893800	Weak transcription	NHDF-Ad	bronchial
48	chr8:8883800-8895400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr8:8883800-8897800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr8:8883800-8906000	Weak transcription	Primary T cells fromperipheralblood	blood

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