Variant report

Variant	rs2040873
Chromosome Location	chr7:83766601-83766602
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10230974	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10231580	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10232605	0.81[EUR][1000 genomes]
rs10244779	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10257628	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10263183	0.81[EUR][1000 genomes]
rs10277194	0.82[EUR][1000 genomes]
rs10278542	0.81[EUR][1000 genomes]
rs10282129	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10488270	0.83[EUR][1000 genomes]
rs10488271	0.81[EUR][1000 genomes]
rs11769574	0.80[EUR][1000 genomes]
rs11773308	0.82[ASN][1000 genomes]
rs12707621	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13222995	0.81[EUR][1000 genomes]
rs13228652	0.81[EUR][1000 genomes]
rs13246393	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1541410	0.82[EUR][1000 genomes]
rs17158648	0.83[EUR][1000 genomes]
rs17158650	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17158668	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17158671	0.81[EUR][1000 genomes]
rs17301441	0.81[EUR][1000 genomes]
rs2040874	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2158567	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2189851	0.81[EUR][1000 genomes]
rs2214665	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2301892	0.82[EUR][1000 genomes]
rs2372034	0.83[EUR][1000 genomes]
rs34018474	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34805696	0.83[EUR][1000 genomes]
rs35789545	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3801653	0.82[EUR][1000 genomes]
rs3801656	0.83[EUR][1000 genomes]
rs4461845	0.81[EUR][1000 genomes]
rs6959163	0.81[EUR][1000 genomes]
rs7778244	0.83[EUR][1000 genomes]
rs7780521	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7781126	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7794876	0.83[EUR][1000 genomes]
rs7811829	0.83[EUR][1000 genomes];0.88[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:30 , 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	chr7:83753800-83766800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:83753800-83766800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:83753800-83768000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:83753800-83768200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr7:83753800-83769600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr7:83753800-83770800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:83754000-83767400	Weak transcription	NHLF	lung
10	chr7:83754000-83767800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:83754000-83772200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr7:83754000-83774200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:83755000-83768800	Weak transcription	Colon Smooth Muscle	Colon
14	chr7:83761000-83768600	Weak transcription	Fetal Lung	lung
15	chr7:83761000-83775200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr7:83764200-83767800	Weak transcription	NHDF-Ad	bronchial
17	chr7:83764200-83771800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr7:83764400-83767000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr7:83764400-83769600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:83764400-83771000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:83764400-83774000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:83764600-83766800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:83765400-83767000	Enhancers	H9 Cell Line	embryonic stem cell
24	chr7:83765400-83769000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr7:83765400-83769000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr7:83765600-83773400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:83765800-83768800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr7:83766200-83766800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr7:83766200-83767200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr7:83766600-83767600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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