Variant report

Variant	rs9321264
Chromosome Location	chr6:131303853-131303854
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:131303458..131306255-chr6:131349749..131352593,2	K562	blood:
2	chr6:131301483..131303877-chr6:131310985..131313836,2	MCF-7	breast:

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10872375	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11154611	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11760051	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12195366	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12196734	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12197829	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12203760	0.88[ASN][1000 genomes]
rs12214021	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1569195	0.88[ASN][1000 genomes]
rs17059954	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1976981	0.86[ASN][1000 genomes]
rs2151068	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2178282	0.88[ASN][1000 genomes]
rs28812545	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4259270	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4498389	0.88[ASN][1000 genomes]
rs62423583	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6901548	0.87[ASN][1000 genomes]
rs6902930	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6903705	0.88[ASN][1000 genomes]
rs6905151	0.89[ASN][1000 genomes]
rs6916206	0.86[ASN][1000 genomes]
rs6921542	0.88[ASN][1000 genomes]
rs6926372	0.87[ASN][1000 genomes]
rs7763960	0.86[ASN][1000 genomes]
rs7770892	0.88[ASN][1000 genomes]
rs9372987	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9372989	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9375784	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9375785	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9375787	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9375788	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9375789	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9375790	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9375794	0.89[ASN][1000 genomes]
rs9375795	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9375796	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9375797	0.88[ASN][1000 genomes]
rs9388873	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9388876	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9388880	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9398967	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9398969	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9398970	0.88[ASN][1000 genomes]
rs9398971	0.88[ASN][1000 genomes]
rs9398972	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9398973	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9398975	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9398976	0.90[EUR][1000 genomes]
rs9402301	0.95[ASN][1000 genomes]
rs9402306	0.98[ASN][1000 genomes]
rs9402310	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9402313	0.88[ASN][1000 genomes]
rs9402314	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9483210	0.87[ASN][1000 genomes]
rs9492790	0.84[ASN][1000 genomes]
rs9492792	0.88[ASN][1000 genomes]
rs951251	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs954919	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9321264	EPB41L2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131288200-131306600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:131291800-131306200	Weak transcription	Fetal Intestine Small	intestine
3	chr6:131292400-131306400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:131298800-131314800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:131299000-131306200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr6:131299000-131309800	Weak transcription	HepG2	liver
7	chr6:131299200-131304600	Enhancers	Fetal Lung	lung
8	chr6:131300200-131304000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:131300400-131312200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr6:131300400-131314600	Weak transcription	Small Intestine	intestine
11	chr6:131301000-131305000	Enhancers	Dnd41	blood
12	chr6:131301200-131304600	Enhancers	Fetal Kidney	kidney
13	chr6:131301800-131305000	Enhancers	Colon Smooth Muscle	Colon
14	chr6:131301800-131306200	Weak transcription	Fetal Muscle Leg	muscle
15	chr6:131302000-131304000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:131302200-131304000	Weak transcription	K562	blood
17	chr6:131302200-131304400	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr6:131302400-131304200	Enhancers	Adipose Nuclei	Adipose
19	chr6:131302400-131304800	Enhancers	Rectal Smooth Muscle	rectum
20	chr6:131302400-131306400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr6:131302600-131304000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:131302600-131304000	Weak transcription	Fetal Stomach	stomach
23	chr6:131302600-131304200	Enhancers	Brain Anterior Caudate	brain
24	chr6:131302800-131305800	Weak transcription	Primary B cells from peripheral blood	blood
25	chr6:131302800-131306200	Weak transcription	Thymus	Thymus
26	chr6:131302800-131306200	Weak transcription	NHLF	lung
27	chr6:131303000-131305400	Weak transcription	Brain Substantia Nigra	brain
28	chr6:131303200-131304800	Enhancers	GM12878-XiMat	blood
29	chr6:131303800-131315400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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