Variant report

Variant	rs58513095
Chromosome Location	chr7:83832616-83832617
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:83644236..83646821-chr7:83830858..83833552,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11971838	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11976488	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11981143	1.00[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	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28631483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61194772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73709587	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73709588	0.82[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	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73709592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73709595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73709602	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73712705	0.82[AFR][1000 genomes];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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83825400-83836000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:83825800-83834200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr7:83825800-83836400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr7:83825800-83841200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:83826000-83833800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:83826000-83834200	Weak transcription	Fetal Brain Male	brain
7	chr7:83826400-83833600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:83830400-83839600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr7:83830800-83833800	Weak transcription	NHLF	lung
10	chr7:83831000-83836400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:83831200-83833600	Weak transcription	NHDF-Ad	bronchial
12	chr7:83831200-83836400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:83831400-83833600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:83831400-83836400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr7:83831400-83837000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:83831600-83834000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:83832000-83836200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:83832200-83833800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr7:83832400-83833800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr7:83832600-83833600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:83832600-83833800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr7:83832600-83833800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr7:83832600-83834000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr7:83832600-83834000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:83832600-83836200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr7:83832600-83836800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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