Variant report

Variant	rs7595330
Chromosome Location	chr2:33564524-33564525
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:20)

rs_ID	r²[population]
rs10208199	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10451637	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11124312	0.85[CEU][hapmap]
rs13389157	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13430506	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2167972	0.91[CHB][hapmap];0.80[ASN][1000 genomes]
rs3754829	0.82[CEU][hapmap]
rs41464348	0.88[CEU][hapmap];0.82[CHB][hapmap]
rs4569454	0.88[YRI][hapmap]
rs5024713	0.88[YRI][hapmap]
rs6740415	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.82[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6740443	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6740448	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.86[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7558136	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7558632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7575377	0.88[CEU][hapmap];0.82[CHB][hapmap]
rs7588894	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs877672	0.81[CEU][hapmap]
rs935996	0.88[CEU][hapmap]
rs9678322	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][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:37 , 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	chr2:33548200-33565400	Weak transcription	NHLF	lung
10	chr2:33548200-33588400	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:33548800-33567000	Weak transcription	Left Ventricle	heart
12	chr2:33549000-33588800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:33549200-33565400	Weak transcription	Ovary	ovary
14	chr2:33549200-33567800	Weak transcription	Fetal Heart	heart
15	chr2:33550600-33577600	Weak transcription	Fetal Stomach	stomach
16	chr2:33558400-33592200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:33560600-33565000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr2:33561000-33565400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:33561200-33572400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr2:33561400-33565000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:33561600-33565400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr2:33561600-33572600	Weak transcription	Gastric	stomach
23	chr2:33561800-33566200	Weak transcription	Spleen	Spleen
24	chr2:33562400-33565400	Weak transcription	HUVEC	blood vessel
25	chr2:33563000-33579600	Weak transcription	NHDF-Ad	bronchial
26	chr2:33563200-33570600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:33563200-33577200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:33563200-33578200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:33563800-33565200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:33563800-33569800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:33564000-33565600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:33564000-33567200	Weak transcription	Osteobl	bone
33	chr2:33564000-33568600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr2:33564000-33582200	Weak transcription	Esophagus	oesophagus
35	chr2:33564200-33566800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:33564200-33567800	Weak transcription	Aorta	Aorta
37	chr2:33564200-33591600	Weak transcription	Psoas Muscle	Psoas

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