Variant report

Variant	rs912262
Chromosome Location	chr9:95525557-95525558
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	chr9:95490365..95492955-chr9:95524565..95526650,2	K562	blood:
2	chr9:95428069..95433526-chr9:95524054..95531235,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000127080	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10117377	0.92[EUR][1000 genomes]
rs10121218	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1015791	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10739929	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10761167	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10761168	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10761169	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10761170	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10821013	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10992415	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10992439	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1111047	0.92[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12554627	0.89[ASW][hapmap];0.91[JPT][hapmap]
rs17380657	1.00[ASW][hapmap]
rs2018717	0.91[JPT][hapmap];0.83[TSI][hapmap]
rs2131918	0.85[CEU][hapmap];0.86[GIH][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes]
rs4266708	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4744142	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4744144	0.83[EUR][1000 genomes]
rs6479427	0.89[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6479429	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7021624	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7043114	1.00[ASW][hapmap];0.89[CEU][hapmap];0.89[CHB][hapmap];0.88[GIH][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.83[MKK][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7862310	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7864757	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7875225	0.96[CEU][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs912260	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9886781	0.89[CEU][hapmap];0.89[CHB][hapmap];0.91[GIH][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9969804	0.84[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430081	chr9:95502571-95568110	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs912262	ZNF484	cis	parietal	SCAN
rs912262	ANKRD19	cis	parietal	SCAN
rs912262	IPPK	cis	cerebellum	SCAN
rs912262	CENPP	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95520400-95525600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr9:95520400-95526000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr9:95521600-95525600	Enhancers	Fetal Heart	heart
4	chr9:95521800-95525800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr9:95521800-95525800	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr9:95521800-95526000	Flanking Active TSS	Brain Germinal Matrix	brain
7	chr9:95522000-95525600	Enhancers	Lung	lung
8	chr9:95522400-95525600	Enhancers	Placenta	Placenta
9	chr9:95523000-95526400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr9:95523000-95526400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr9:95523400-95525800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr9:95523800-95525800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:95523800-95526200	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr9:95524000-95525800	Enhancers	Small Intestine	intestine
15	chr9:95524000-95526200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr9:95524200-95526400	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr9:95524400-95526000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr9:95524600-95525600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr9:95524600-95525800	Flanking Active TSS	Rectal Smooth Muscle	rectum
20	chr9:95524600-95526000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr9:95524600-95526000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr9:95524600-95526200	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr9:95524600-95526200	Flanking Active TSS	Brain Angular Gyrus	brain
24	chr9:95524600-95526400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr9:95524600-95526400	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr9:95524800-95525600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr9:95524800-95525600	Enhancers	Fetal Lung	lung
28	chr9:95524800-95525800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr9:95524800-95526000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr9:95524800-95526000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr9:95524800-95526000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr9:95524800-95526000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr9:95524800-95526000	Flanking Active TSS	GM12878-XiMat	blood
34	chr9:95524800-95526200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr9:95524800-95526200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr9:95524800-95526200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr9:95524800-95526200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr9:95524800-95526200	Flanking Active TSS	Esophagus	oesophagus
39	chr9:95524800-95526200	Flanking Active TSS	Dnd41	blood
40	chr9:95524800-95526200	Flanking Active TSS	HMEC	breast
41	chr9:95524800-95526200	Flanking Active TSS	K562	blood
42	chr9:95524800-95526400	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr9:95524800-95526400	Flanking Active TSS	Brain Cingulate Gyrus	brain
44	chr9:95524800-95526400	Flanking Active TSS	Fetal Brain Female	brain
45	chr9:95524800-95526400	Flanking Active TSS	Fetal Muscle Trunk	muscle
46	chr9:95524800-95526600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr9:95524800-95526600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr9:95525000-95525600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr9:95525000-95525600	Flanking Active TSS	NHLF	lung
50	chr9:95525000-95525800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell

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