Variant report

Variant	rs2812397
Chromosome Location	chr9:116367638-116367639
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12341266	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1411672	0.81[AMR][1000 genomes]
rs1679671	0.80[EUR][1000 genomes]
rs2039224	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2622265	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2622268	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2622269	0.81[AMR][1000 genomes]
rs4548257	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4582632	0.81[AMR][1000 genomes]
rs4979259	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs590963	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs591354	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6478026	0.81[AMR][1000 genomes]
rs659498	0.81[AMR][1000 genomes]
rs785101	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv893747	chr9:116214058-116386438	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv526579	chr9:116244982-116391162	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv893748	chr9:116308709-116421786	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv430093	chr9:116330446-117325446	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
6	nsv466509	chr9:116356516-116396098	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv615216	chr9:116356516-116396098	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv466510	chr9:116363877-116397397	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv615217	chr9:116363877-116397397	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv615218	chr9:116365126-116391069	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116358000-116371800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:116360400-116371800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr9:116364800-116368200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr9:116364800-116371800	Weak transcription	Brain Angular Gyrus	brain
5	chr9:116365000-116370200	Weak transcription	HUVEC	blood vessel
6	chr9:116365000-116371200	Weak transcription	Right Atrium	heart
7	chr9:116365200-116371800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr9:116365200-116371800	Weak transcription	Gastric	stomach
9	chr9:116365400-116368600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr9:116365400-116371800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr9:116365600-116371200	Weak transcription	Aorta	Aorta
12	chr9:116365600-116371200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr9:116365600-116371600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:116365600-116371800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr9:116365600-116371800	Weak transcription	Fetal Intestine Small	intestine
16	chr9:116366000-116368200	Weak transcription	Fetal Lung	lung
17	chr9:116366000-116370200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr9:116366000-116371400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr9:116366200-116370600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr9:116366200-116371800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr9:116366200-116375800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr9:116366400-116371200	Weak transcription	Fetal Muscle Leg	muscle
23	chr9:116366400-116371800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr9:116366400-116371800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr9:116366400-116371800	Weak transcription	Placenta	Placenta
26	chr9:116366600-116371200	Weak transcription	Liver	Liver
27	chr9:116366600-116371600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr9:116366600-116371800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr9:116366600-116371800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr9:116366600-116371800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr9:116366800-116371800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr9:116367000-116371800	Weak transcription	Adipose Nuclei	Adipose
33	chr9:116367600-116370400	Weak transcription	HepG2	liver

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