Variant report

Variant	rs7127596
Chromosome Location	chr11:33706877-33706878
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:33705541..33707910-chr11:33713966..33716310,2	K562	blood:
2	chr11:33705983..33707697-chr11:33711196..33713737,2	K562	blood:
3	chr11:33705260..33707766-chr11:33711578..33713625,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10501128	0.93[CEU][hapmap];0.86[CHB][hapmap];0.90[CHD][hapmap];0.86[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10768019	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10768020	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10768021	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10836100	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11032341	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11032343	0.85[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11032344	0.93[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1569764	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34565296	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4142964	0.94[ASN][1000 genomes]
rs4356198	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7928865	0.81[AMR][1000 genomes];0.96[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	nsv832113	chr11:33609202-33767781	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7127596	CCDC73	cis	parietal	SCAN
rs7127596	LDLRAD3	cis	parietal	SCAN
rs7127596	HIPK3	cis	cerebellum	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33691000-33712400	Weak transcription	Psoas Muscle	Psoas
2	chr11:33694000-33713600	Weak transcription	Fetal Brain Female	brain
3	chr11:33703800-33707000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:33704200-33707000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:33704200-33711200	Weak transcription	Lung	lung
6	chr11:33704400-33712200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:33705200-33708000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:33705200-33710400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:33705200-33710400	Weak transcription	Pancreas	Pancrea
10	chr11:33705400-33707000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:33706000-33708200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:33706000-33709400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr11:33706000-33714200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:33706200-33707800	Enhancers	NHDF-Ad	bronchial
15	chr11:33706200-33712200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr11:33706200-33712200	Weak transcription	Brain Germinal Matrix	brain
17	chr11:33706200-33712400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr11:33706400-33707000	Enhancers	NHLF	lung
19	chr11:33706400-33707200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:33706600-33707000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:33706600-33707000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:33706600-33707000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:33706600-33707000	Enhancers	HMEC	breast
24	chr11:33706600-33707000	Enhancers	NHEK	skin
25	chr11:33706600-33709600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:33706600-33714200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr11:33706800-33707200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:33706800-33708200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:33706800-33710400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:33706800-33712600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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