Variant report

Variant	rs11966074
Chromosome Location	chr6:11789917-11789918
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1018383	0.93[CEU][hapmap];0.82[CHB][hapmap];0.92[EUR][1000 genomes]
rs10947559	0.93[CEU][hapmap];0.86[CHB][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes]
rs2056952	0.92[CEU][hapmap];0.90[CHB][hapmap];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2235384	0.86[CEU][hapmap];0.86[CHB][hapmap];0.83[TSI][hapmap]
rs60675252	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6457838	0.93[EUR][1000 genomes]
rs6457840	0.93[CEU][hapmap];0.82[CHB][hapmap];0.82[CHD][hapmap];0.90[TSI][hapmap];0.92[EUR][1000 genomes]
rs6457841	0.93[CEU][hapmap];0.87[CHB][hapmap];0.82[CHD][hapmap];0.90[TSI][hapmap];0.92[EUR][1000 genomes]
rs6913633	0.93[CEU][hapmap];0.87[CHB][hapmap];0.93[EUR][1000 genomes]
rs6940263	0.93[CEU][hapmap];0.86[CHB][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7749712	0.93[CEU][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7753407	0.93[CEU][hapmap];0.86[CHB][hapmap];0.80[EUR][1000 genomes]
rs7763031	0.93[CEU][hapmap];0.93[EUR][1000 genomes]
rs9470068	0.93[CEU][hapmap];0.86[CHB][hapmap];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758036	chr6:11679753-11822351	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2759407	chr6:11679753-11822351	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv12435	chr6:11786468-11791797	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv970076	chr6:11789794-11794413	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11966074	PIP5K1P1	cis	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11774000-11791600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:11786000-11791400	Weak transcription	NHEK	skin
3	chr6:11786200-11790600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:11786200-11790800	Weak transcription	HMEC	breast
5	chr6:11786600-11790400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:11786800-11790600	Weak transcription	Lung	lung
7	chr6:11787000-11790600	Weak transcription	Fetal Intestine Small	intestine
8	chr6:11787000-11791400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr6:11787400-11790800	Weak transcription	Fetal Intestine Large	intestine
10	chr6:11788600-11790800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:11788600-11791000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr6:11788800-11793000	Weak transcription	GM12878-XiMat	blood
13	chr6:11789000-11790600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr6:11789600-11791800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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