Variant report

Variant	rs11974629
Chromosome Location	chr7:83729125-83729126
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10488267	0.82[ASN][1000 genomes]
rs11971623	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11972281	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11976014	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11976072	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11976558	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11977682	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12707611	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13224288	0.82[ASN][1000 genomes]
rs13226948	0.82[ASN][1000 genomes]
rs13228082	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13241906	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17232537	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17232705	0.85[EUR][1000 genomes]
rs17298417	0.86[EUR][1000 genomes]
rs1990043	0.80[ASN][1000 genomes]
rs2040876	0.80[ASN][1000 genomes]
rs2040877	0.80[ASN][1000 genomes]
rs2057844	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2057845	0.84[EUR][1000 genomes]
rs2057846	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2888221	0.82[ASN][1000 genomes]
rs34132658	0.80[ASN][1000 genomes]
rs34197283	0.80[ASN][1000 genomes]
rs34197825	0.81[ASN][1000 genomes]
rs34665905	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35211989	0.80[ASN][1000 genomes]
rs35638242	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35824530	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36064207	0.80[ASN][1000 genomes]
rs3801615	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3801616	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3801617	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3801619	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3801629	0.82[ASN][1000 genomes]
rs3801630	0.82[ASN][1000 genomes]
rs3801632	0.82[ASN][1000 genomes]
rs3801633	0.82[ASN][1000 genomes]
rs3801634	0.82[ASN][1000 genomes]
rs3801636	0.80[ASN][1000 genomes]
rs3801637	0.82[ASN][1000 genomes]
rs3801643	0.81[ASN][1000 genomes]
rs41441447	0.80[ASN][1000 genomes]
rs4732541	0.82[ASN][1000 genomes]
rs55740798	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62477284	0.80[ASN][1000 genomes]
rs62477290	0.80[ASN][1000 genomes]
rs62477297	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62477298	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62477300	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6467982	0.81[ASN][1000 genomes]
rs6467983	0.81[ASN][1000 genomes]
rs6467984	0.81[ASN][1000 genomes]
rs67782928	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6965990	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7780843	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7784963	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7787984	0.80[ASN][1000 genomes]
rs7804363	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7806871	0.87[EUR][1000 genomes]
rs7808725	0.82[ASN][1000 genomes]
rs7808859	0.83[ASN][1000 genomes]
rs917089	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs917090	0.82[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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83715600-83730200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:83715600-83731400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:83718400-83735000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:83721600-83735200	Weak transcription	Colon Smooth Muscle	Colon
5	chr7:83722200-83734000	Weak transcription	Fetal Lung	lung
6	chr7:83722200-83734200	Weak transcription	NHDF-Ad	bronchial
7	chr7:83722200-83735800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr7:83722200-83737600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:83722200-83738400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:83723400-83729400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:83724200-83737800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:83727000-83736800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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