Variant report

Variant	rs73179383
Chromosome Location	chr7:83803592-83803593
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10256270	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1356804	0.87[AFR][1000 genomes]
rs17158848	0.87[AFR][1000 genomes]
rs58835109	0.87[AFR][1000 genomes]
rs73179400	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73181306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73181369	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73181375	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73181392	0.86[AMR][1000 genomes]
rs73185111	0.87[AFR][1000 genomes]
rs73185127	0.87[AFR][1000 genomes]
rs73189039	0.87[AFR][1000 genomes]
rs7804323	0.81[EUR][1000 genomes]
rs7808707	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9642178	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv888629	chr7:83722691-83896025	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1017884	chr7:83724138-83972995	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv538995	chr7:83724138-83972995	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv888630	chr7:83782839-83809111	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83787800-83804600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:83792200-83820600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr7:83797400-83804600	Weak transcription	Colon Smooth Muscle	Colon
4	chr7:83800800-83816600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr7:83801600-83805800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:83802000-83807400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:83802600-83803600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:83802800-83804600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
9	chr7:83803000-83803600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:83803000-83803600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:83803000-83803600	ZNF genes & repeats	NHDF-Ad	bronchial
12	chr7:83803000-83803600	ZNF genes & repeats	NHLF	lung
13	chr7:83803000-83803800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:83803000-83803800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
15	chr7:83803000-83803800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:83803000-83803800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:83803000-83803800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
18	chr7:83803000-83803800	ZNF genes & repeats	Fetal Muscle Leg	muscle
19	chr7:83803000-83803800	ZNF genes & repeats	A549	lung
20	chr7:83803000-83804600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
21	chr7:83803000-83805000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:83803000-83805000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
23	chr7:83803000-83805200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
24	chr7:83803200-83803600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:83803400-83803600	ZNF genes & repeats	NH-A	brain
26	chr7:83803400-83803800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr7:83803400-83803800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:83803400-83804600	Strong transcription	Fetal Lung	lung
29	chr7:83803400-83805000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:83803400-83806000	Weak transcription	Fetal Stomach	stomach
31	chr7:83803400-83806200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:83803400-83816200	Weak transcription	Fetal Brain Male	brain
33	chr7:83803400-83821800	Weak transcription	H9 Cell Line	embryonic stem cell

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