Variant report

Variant	rs7823697
Chromosome Location	chr8:120964347-120964348
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10105766	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10955945	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1106481	0.89[EUR][1000 genomes]
rs1106482	0.89[EUR][1000 genomes]
rs11987040	0.89[EUR][1000 genomes]
rs12678916	0.81[EUR][1000 genomes]
rs1814954	0.88[EUR][1000 genomes]
rs28415366	0.85[EUR][1000 genomes]
rs28658252	0.85[EUR][1000 genomes]
rs3930200	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4871028	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7823956	0.88[EUR][1000 genomes]
rs908945	0.89[EUR][1000 genomes]
rs908946	0.87[EUR][1000 genomes]
rs9297608	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv1027974	chr8:120885478-121079658	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv539739	chr8:120885478-121079658	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv972194	chr8:120898451-120965081	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120945200-120977400	Weak transcription	Fetal Kidney	kidney
2	chr8:120947400-120964400	Weak transcription	Adipose Nuclei	Adipose
3	chr8:120947400-120968000	Weak transcription	Spleen	Spleen
4	chr8:120954200-120968000	Weak transcription	Stomach Mucosa	stomach
5	chr8:120954600-120970400	Weak transcription	Fetal Stomach	stomach
6	chr8:120954800-120964400	Weak transcription	Right Atrium	heart
7	chr8:120959600-120964400	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:120959600-120968600	Weak transcription	Aorta	Aorta
9	chr8:120959800-120966400	Weak transcription	Ovary	ovary
10	chr8:120959800-120977400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr8:120960000-120968600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:120960400-120966400	Weak transcription	Gastric	stomach
13	chr8:120960400-120967800	Weak transcription	Fetal Intestine Small	intestine
14	chr8:120960400-120968200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr8:120960400-120968200	Weak transcription	Liver	Liver
16	chr8:120960400-120968200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr8:120960400-120968200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr8:120960400-120968400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr8:120960600-120968200	Weak transcription	Brain Anterior Caudate	brain
20	chr8:120960600-120968200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr8:120960600-120968400	Weak transcription	Brain Angular Gyrus	brain
22	chr8:120960600-120968600	Weak transcription	Fetal Intestine Large	intestine
23	chr8:120963000-120964400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr8:120963200-120965000	Enhancers	Brain Substantia Nigra	brain
25	chr8:120963200-120965200	Enhancers	Psoas Muscle	Psoas
26	chr8:120963400-120964600	Weak transcription	Lung	lung
27	chr8:120963400-120965400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:120963600-120964400	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr8:120963600-120964800	Enhancers	Brain Cingulate Gyrus	brain
30	chr8:120963600-120965200	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr8:120963800-120964800	Enhancers	Primary B cells from cord blood	blood
32	chr8:120963800-120965200	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr8:120963800-120965400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:120964000-120964400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr8:120964000-120964800	Enhancers	Primary B cells from peripheral blood	blood
36	chr8:120964000-120964800	Enhancers	GM12878-XiMat	blood
37	chr8:120964000-120965200	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr8:120964000-120965200	Enhancers	Primary hematopoietic stem cells	blood
39	chr8:120964000-120966800	Weak transcription	Brain Hippocampus Middle	brain
40	chr8:120964000-120977400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:120964200-120965000	Enhancers	Left Ventricle	heart
42	chr8:120964200-120967600	Weak transcription	Colon Smooth Muscle	Colon
43	chr8:120964200-120977400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr8:120964200-120977600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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