Variant report

Variant	rs73709587
Chromosome Location	chr7:83815372-83815373
allele	A/C
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:16)

rs_ID	r²[population]
rs11971838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11973201	0.81[AFR][1000 genomes]
rs11976488	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11981143	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11982044	1.00[ASN][1000 genomes]
rs11982456	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28631483	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58513095	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61194772	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73709588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73709589	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73709590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73709592	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73709595	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73709602	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73712705	1.00[AMR][1000 genomes];1.00[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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83792200-83820600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr7:83800800-83816600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr7:83803400-83816200	Weak transcription	Fetal Brain Male	brain
4	chr7:83803400-83821800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:83803600-83816200	Weak transcription	NHLF	lung
6	chr7:83803600-83816400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:83803600-83816400	Weak transcription	NH-A	brain
8	chr7:83803800-83820600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:83804600-83816200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr7:83805000-83816200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:83805000-83817200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr7:83806400-83815400	Weak transcription	Fetal Stomach	stomach
13	chr7:83806800-83816200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:83809000-83816200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:83811600-83816400	Weak transcription	Colon Smooth Muscle	Colon
16	chr7:83812000-83816200	Weak transcription	A549	lung
17	chr7:83812000-83816400	Weak transcription	NHDF-Ad	bronchial
18	chr7:83812000-83819600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:83812600-83816200	Weak transcription	Fetal Kidney	kidney
20	chr7:83812600-83816600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:83814000-83816000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:83814000-83816200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr7:83814000-83823200	Weak transcription	Brain Substantia Nigra	brain
24	chr7:83814200-83816200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr7:83814200-83816800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr7:83814200-83817200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr7:83814200-83823200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr7:83814400-83816200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:83814400-83816200	Weak transcription	Fetal Heart	heart
30	chr7:83814400-83816600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:83814400-83818200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr7:83814400-83823800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr7:83814600-83816200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr7:83814600-83816600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:83815000-83816200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:83815200-83816200	Enhancers	Fetal Lung	lung

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