Variant report

Variant	rs17158709
Chromosome Location	chr7:83811189-83811190
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10488592	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1520108	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17158706	0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17158741	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17158743	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17158746	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17158766	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17158790	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17158806	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17158812	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17158814	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17158816	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17158826	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2189117	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs35548191	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs41391055	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41456548	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41457445	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4546586	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs59693860	1.00[AFR][1000 genomes];0.91[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:29 , 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	chr7:83803600-83813400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:83803600-83816200	Weak transcription	NHLF	lung
7	chr7:83803600-83816400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:83803600-83816400	Weak transcription	NH-A	brain
9	chr7:83803800-83811400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:83803800-83820600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:83804600-83813600	Weak transcription	Fetal Lung	lung
12	chr7:83804600-83816200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr7:83805000-83816200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:83805000-83817200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr7:83805200-83813200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr7:83806400-83815400	Weak transcription	Fetal Stomach	stomach
17	chr7:83806600-83811800	Weak transcription	Fetal Heart	heart
18	chr7:83806800-83816200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:83807400-83811200	Weak transcription	NHDF-Ad	bronchial
20	chr7:83807600-83813200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr7:83807600-83814000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:83807800-83812000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:83808400-83811600	Weak transcription	A549	lung
24	chr7:83809000-83811200	Weak transcription	Colon Smooth Muscle	Colon
25	chr7:83809000-83816200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:83809200-83813800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr7:83810200-83814000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:83810800-83811400	Enhancers	Rectal Smooth Muscle	rectum
29	chr7:83810800-83812000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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