Variant report

Variant	rs2327006
Chromosome Location	chr6:131308551-131308552
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10499177	0.91[CHB][hapmap];0.83[CHD][hapmap];0.86[JPT][hapmap]
rs11969461	0.93[CEU][hapmap];0.91[CHB][hapmap]
rs12527232	0.82[ASN][1000 genomes]
rs12527605	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12528626	0.85[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap]
rs12529894	0.85[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12663183	0.83[CHB][hapmap]
rs1332492	0.93[CEU][hapmap];1.00[CHB][hapmap]
rs17059678	0.83[CHB][hapmap]
rs17059736	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs17059852	0.85[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1855078	0.93[CEU][hapmap];1.00[CHB][hapmap]
rs2327007	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3777452	0.85[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap]
rs3798251	0.91[CHB][hapmap];0.83[CHD][hapmap];0.86[JPT][hapmap]
rs4513821	0.91[CHB][hapmap];0.83[CHD][hapmap];0.86[JPT][hapmap]
rs66491359	0.90[ASN][1000 genomes]
rs67836126	0.81[ASN][1000 genomes]
rs6923182	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs6927047	0.82[CHB][hapmap]
rs6941909	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs72985722	0.94[ASN][1000 genomes]
rs928592	0.86[JPT][hapmap]
rs946349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9492762	0.92[CEU][hapmap];0.91[CHB][hapmap];0.83[CHD][hapmap];0.86[JPT][hapmap]
rs9492768	0.80[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs9492776	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9492782	0.80[CEU][hapmap];1.00[CHB][hapmap]
rs9492784	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs9492785	0.93[CEU][hapmap];1.00[CHB][hapmap]

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
rs2327006	EPB41L2	cis	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131298800-131314800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:131299000-131309800	Weak transcription	HepG2	liver
3	chr6:131300400-131312200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr6:131300400-131314600	Weak transcription	Small Intestine	intestine
5	chr6:131303800-131315400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:131304000-131312600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:131304200-131313400	Weak transcription	K562	blood
8	chr6:131304400-131312200	Weak transcription	Fetal Stomach	stomach
9	chr6:131305800-131309600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:131306800-131312200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr6:131306800-131313800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:131306800-131313800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:131306800-131315200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:131306800-131317000	Weak transcription	Fetal Intestine Small	intestine
15	chr6:131306800-131317200	Weak transcription	NHLF	lung
16	chr6:131306800-131317400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:131306800-131320000	Weak transcription	Left Ventricle	heart
18	chr6:131307200-131312200	Weak transcription	Fetal Lung	lung
19	chr6:131308000-131315400	Weak transcription	Lung	lung
20	chr6:131308400-131308600	Enhancers	Brain Substantia Nigra	brain
21	chr6:131308400-131308600	Weak transcription	Colon Smooth Muscle	Colon
22	chr6:131308400-131308600	ZNF genes & repeats	Dnd41	blood

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