Variant report

Variant	rs7588894
Chromosome Location	chr2:33566412-33566413
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs13389157	0.82[AMR][1000 genomes]
rs13394170	0.84[EUR][1000 genomes]
rs13403065	0.82[EUR][1000 genomes]
rs13414720	0.82[EUR][1000 genomes]
rs2167972	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6735233	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6740415	0.82[AMR][1000 genomes]
rs6740448	0.82[AMR][1000 genomes]
rs7558632	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7581438	0.84[EUR][1000 genomes]
rs7595330	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs9308934	0.80[EUR][1000 genomes]
rs9678322	0.84[AMR][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	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' 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	22 gene(s)	inside rSNPs	diseases
2	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats 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	22 gene(s)	inside rSNPs	diseases
3	nsv873791	chr2:33489975-33586776	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv1012967	chr2:33533340-33638312	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv535627	chr2:33533340-33638312	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33529800-33609400	Weak transcription	Right Ventricle	heart
2	chr2:33540800-33580800	Weak transcription	Placenta	Placenta
3	chr2:33542000-33572200	Weak transcription	Liver	Liver
4	chr2:33547200-33567200	Weak transcription	NH-A	brain
5	chr2:33547600-33567200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:33547600-33579800	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:33547800-33581000	Weak transcription	Fetal Lung	lung
8	chr2:33548000-33567200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:33548200-33588400	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:33548800-33567000	Weak transcription	Left Ventricle	heart
11	chr2:33549000-33588800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:33549200-33567800	Weak transcription	Fetal Heart	heart
13	chr2:33550600-33577600	Weak transcription	Fetal Stomach	stomach
14	chr2:33558400-33592200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr2:33561200-33572400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:33561600-33572600	Weak transcription	Gastric	stomach
17	chr2:33563000-33579600	Weak transcription	NHDF-Ad	bronchial
18	chr2:33563200-33570600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:33563200-33577200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:33563200-33578200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:33563800-33569800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:33564000-33567200	Weak transcription	Osteobl	bone
23	chr2:33564000-33568600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr2:33564000-33582200	Weak transcription	Esophagus	oesophagus
25	chr2:33564200-33566800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:33564200-33567800	Weak transcription	Aorta	Aorta
27	chr2:33564200-33591600	Weak transcription	Psoas Muscle	Psoas
28	chr2:33565000-33568400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr2:33565400-33569000	Enhancers	HUVEC	blood vessel
30	chr2:33565600-33567200	Enhancers	Lung	lung
31	chr2:33565600-33580800	Weak transcription	Fetal Muscle Trunk	muscle
32	chr2:33565800-33567000	Weak transcription	Adipose Nuclei	Adipose
33	chr2:33565800-33567000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr2:33565800-33569400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:33565800-33576600	Weak transcription	Ovary	ovary
36	chr2:33565800-33590400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr2:33565800-33590400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr2:33566000-33568000	Strong transcription	NHLF	lung
39	chr2:33566000-33569600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:33566400-33568600	Weak transcription	Spleen	Spleen

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