Variant report

Variant	rs58741896
Chromosome Location	chr7:83768679-83768680
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:83766680..83768990-chr7:83769908..83771879,2	K562	blood:
2	chr7:83731925..83734584-chr7:83767257..83769496,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10488269	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17158564	0.86[AMR][1000 genomes]
rs17158607	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17158642	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17158647	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17158675	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1990046	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28433968	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28708904	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58382291	0.91[ASN][1000 genomes]
rs59186128	0.91[ASN][1000 genomes]
rs6944814	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6946101	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6975522	0.91[ASN][1000 genomes]
rs73177447	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73177452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73177461	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73177476	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73177479	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73177487	0.88[EUR][1000 genomes]
rs73378880	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73378884	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73380806	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73380837	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73380843	0.91[ASN][1000 genomes]
rs7787696	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7808547	0.93[AMR][1000 genomes];0.86[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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83745000-83769400	Weak transcription	Fetal Stomach	stomach
2	chr7:83752600-83769600	Weak transcription	A549	lung
3	chr7:83753800-83769600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr7:83753800-83770800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:83754000-83772200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:83754000-83774200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:83755000-83768800	Weak transcription	Colon Smooth Muscle	Colon
8	chr7:83761000-83775200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr7:83764200-83771800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr7:83764400-83769600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:83764400-83771000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:83764400-83774000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:83765400-83769000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr7:83765400-83769000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr7:83765600-83773400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:83765800-83768800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:83766800-83770000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr7:83767000-83776800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr7:83767200-83769800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:83767400-83768800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:83767400-83769200	Enhancers	NHLF	lung
22	chr7:83767400-83769600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:83767600-83769800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr7:83767800-83768800	Active TSS	NHDF-Ad	bronchial
25	chr7:83768000-83769600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:83768000-83770000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr7:83768000-83772000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr7:83768200-83769000	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr7:83768200-83769800	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr7:83768600-83768800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:83768600-83768800	Enhancers	NH-A	brain
32	chr7:83768600-83769000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr7:83768600-83769200	Enhancers	Fetal Lung	lung
34	chr7:83768600-83770600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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