Variant report

Variant	rs73380806
Chromosome Location	chr7:83769789-83769790
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10488269	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17158607	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17158642	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17158647	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17158675	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1990046	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28433968	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28708904	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58382291	0.91[ASN][1000 genomes]
rs58741896	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59186128	0.91[ASN][1000 genomes]
rs6944814	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6946101	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6975522	0.91[ASN][1000 genomes]
rs73177447	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73177452	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73177461	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73177476	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73177479	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73177487	0.84[EUR][1000 genomes]
rs73378880	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73378884	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73380837	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73380843	0.91[ASN][1000 genomes]
rs7787696	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7808547	0.82[EUR][1000 genomes];1.00[ASN][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	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

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83753800-83770800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:83754000-83772200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:83754000-83774200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:83761000-83775200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr7:83764200-83771800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr7:83764400-83771000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:83764400-83774000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:83765600-83773400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:83766800-83770000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr7:83767000-83776800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:83767200-83769800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:83767600-83769800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr7:83768000-83770000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:83768000-83772000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr7:83768200-83769800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr7:83768600-83770600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:83768800-83774200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:83769000-83772000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr7:83769000-83772200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr7:83769000-83772400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr7:83769000-83774000	Weak transcription	Colon Smooth Muscle	Colon
22	chr7:83769200-83770000	Enhancers	HUVEC	blood vessel
23	chr7:83769400-83769800	Enhancers	Fetal Stomach	stomach
24	chr7:83769400-83770000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr7:83769400-83770400	Enhancers	HepG2	liver
26	chr7:83769400-83770800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:83769400-83770800	Enhancers	NHDF-Ad	bronchial
28	chr7:83769600-83769800	Enhancers	Fetal Lung	lung
29	chr7:83769600-83769800	Enhancers	NHLF	lung
30	chr7:83769600-83770000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:83769600-83770000	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr7:83769600-83770600	Enhancers	A549	lung
33	chr7:83769600-83771000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr7:83769600-83771800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:83769600-83774000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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