Variant report

Variant	rs9321265
Chromosome Location	chr6:131304233-131304234
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr6:131304029-131304235	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:131303458..131306255-chr6:131349749..131352593,2	K562	blood:

Variant related genes	Relation type
EPB41L2	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1043596	0.83[JPT][hapmap]
rs12110524	0.88[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap]
rs12194612	0.83[JPT][hapmap]
rs12206057	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs12526896	0.84[YRI][hapmap];0.84[AFR][1000 genomes]
rs12530288	0.93[ASW][hapmap];0.87[LWK][hapmap];1.00[MKK][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes]
rs3777438	0.88[CEU][hapmap];0.94[CHB][hapmap];0.90[CHD][hapmap];0.89[JPT][hapmap]
rs3777454	0.81[ASN][1000 genomes]
rs3777457	0.83[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap]
rs6569713	0.81[ASN][1000 genomes]
rs66773803	0.98[ASN][1000 genomes]
rs6938586	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs6941712	0.93[ASW][hapmap];0.89[LWK][hapmap];1.00[MKK][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes]
rs867707	0.89[JPT][hapmap]
rs915172	0.89[JPT][hapmap]
rs9483201	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9492767	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];0.92[ASN][1000 genomes]
rs9492773	0.87[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs9492775	0.94[CHB][hapmap];0.83[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[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
rs9321265	EPB41L2	cis	parietal	SCAN

Chromatin state (count:27 , 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	chr6:131300400-131312200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr6:131300400-131314600	Weak transcription	Small Intestine	intestine
10	chr6:131301000-131305000	Enhancers	Dnd41	blood
11	chr6:131301200-131304600	Enhancers	Fetal Kidney	kidney
12	chr6:131301800-131305000	Enhancers	Colon Smooth Muscle	Colon
13	chr6:131301800-131306200	Weak transcription	Fetal Muscle Leg	muscle
14	chr6:131302200-131304400	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr6:131302400-131304800	Enhancers	Rectal Smooth Muscle	rectum
16	chr6:131302400-131306400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr6:131302800-131305800	Weak transcription	Primary B cells from peripheral blood	blood
18	chr6:131302800-131306200	Weak transcription	Thymus	Thymus
19	chr6:131302800-131306200	Weak transcription	NHLF	lung
20	chr6:131303000-131305400	Weak transcription	Brain Substantia Nigra	brain
21	chr6:131303200-131304800	Enhancers	GM12878-XiMat	blood
22	chr6:131303800-131315400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:131304000-131304400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:131304000-131304400	Enhancers	Fetal Stomach	stomach
25	chr6:131304000-131305800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr6:131304000-131312600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:131304200-131313400	Weak transcription	K562	blood

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