Variant report

Variant	rs12707622
Chromosome Location	chr7:83806734-83806735
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:15)

rs_ID	r²[population]
rs12113887	1.00[CEU][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12707625	1.00[CEU][hapmap]
rs12707629	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12707630	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12707631	0.80[EUR][1000 genomes]
rs13231596	0.80[EUR][1000 genomes]
rs13234176	0.80[EUR][1000 genomes]
rs13247197	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17242890	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2158565	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34657298	0.94[AFR][1000 genomes]
rs35486665	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35806139	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35921556	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71558714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv888630	chr7:83782839-83809111	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:30 , 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	chr7:83802000-83807400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:83803400-83816200	Weak transcription	Fetal Brain Male	brain
5	chr7:83803400-83821800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:83803600-83813400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:83803600-83816200	Weak transcription	NHLF	lung
8	chr7:83803600-83816400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:83803600-83816400	Weak transcription	NH-A	brain
10	chr7:83803800-83808400	Weak transcription	Fetal Muscle Leg	muscle
11	chr7:83803800-83811400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:83803800-83820600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:83804600-83807600	Enhancers	Colon Smooth Muscle	Colon
14	chr7:83804600-83813600	Weak transcription	Fetal Lung	lung
15	chr7:83804600-83816200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr7:83804800-83807600	Enhancers	Rectal Smooth Muscle	rectum
17	chr7:83805000-83807200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:83805000-83816200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:83805000-83817200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr7:83805200-83808600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr7:83805200-83813200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr7:83805800-83806800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:83805800-83806800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:83805800-83806800	Enhancers	A549	lung
25	chr7:83805800-83807000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:83805800-83808400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr7:83806000-83806800	Enhancers	NHDF-Ad	bronchial
28	chr7:83806400-83807200	Weak transcription	Hela-S3	cervix
29	chr7:83806400-83815400	Weak transcription	Fetal Stomach	stomach
30	chr7:83806600-83811800	Weak transcription	Fetal Heart	heart

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