Variant report

Variant	rs12152902
Chromosome Location	chr5:108086405-108086406
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:108060235..108074407-chr5:108078172..108087811,48	K562	blood:
2	chr5:108084910..108087021-chr5:108747518..108750406,2	K562	blood:
3	chr5:108059312..108068052-chr5:108079113..108087366,42	K562	blood:
4	chr5:108083007..108085896-chr5:108086009..108087587,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151422	Chromatin interaction
ENSG00000272523	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11240983	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11741158	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12153447	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12153449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12153549	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12188386	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13154354	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13169624	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs13174528	1.00[YRI][hapmap]
rs13181901	1.00[YRI][hapmap]
rs13184924	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34263420	0.86[EUR][1000 genomes]
rs34505415	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34989254	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs36047276	1.00[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882689	chr5:107595383-108299744	Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108082600-108087000	Active TSS	Stomach Smooth Muscle	stomach
2	chr5:108085600-108086600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:108085600-108086600	Enhancers	Fetal Heart	heart
4	chr5:108085600-108086600	Weak transcription	Right Ventricle	heart
5	chr5:108085600-108086800	Weak transcription	Gastric	stomach
6	chr5:108085600-108091000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:108085600-108102600	Weak transcription	Lung	lung
8	chr5:108085600-108119800	Weak transcription	Left Ventricle	heart
9	chr5:108085800-108086600	Enhancers	Fetal Brain Male	brain
10	chr5:108085800-108086800	Enhancers	Colon Smooth Muscle	Colon
11	chr5:108085800-108087600	Weak transcription	Osteobl	bone
12	chr5:108085800-108088200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr5:108085800-108089200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:108085800-108089400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr5:108085800-108089400	Weak transcription	HSMM	muscle
16	chr5:108085800-108089400	Weak transcription	HSMMtube	muscle
17	chr5:108085800-108094400	Weak transcription	Brain Anterior Caudate	brain
18	chr5:108085800-108095200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr5:108085800-108095200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr5:108085800-108095400	Weak transcription	Primary B cells from cord blood	blood
21	chr5:108085800-108095400	Weak transcription	A549	lung
22	chr5:108085800-108097800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr5:108085800-108097800	Weak transcription	Brain Angular Gyrus	brain
24	chr5:108086000-108086600	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr5:108086000-108088000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:108086000-108088000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:108086000-108088400	Weak transcription	HUVEC	blood vessel
28	chr5:108086200-108086600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:108086200-108087000	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr5:108086200-108087800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:108086200-108087800	Weak transcription	NHLF	lung
32	chr5:108086200-108088200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr5:108086200-108088200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr5:108086200-108088200	Weak transcription	Adipose Nuclei	Adipose
35	chr5:108086200-108088400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr5:108086200-108089000	Weak transcription	NH-A	brain
37	chr5:108086200-108092800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr5:108086200-108095400	Weak transcription	Primary T cells from cord blood	blood
39	chr5:108086200-108095400	Weak transcription	Fetal Lung	lung
40	chr5:108086200-108095600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr5:108086200-108119200	Weak transcription	Fetal Kidney	kidney
42	chr5:108086200-108120600	Weak transcription	Brain Hippocampus Middle	brain
43	chr5:108086400-108086600	Enhancers	GM12878-XiMat	blood
44	chr5:108086400-108086800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr5:108086400-108087200	Enhancers	HMEC	breast
46	chr5:108086400-108087600	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr5:108086400-108087600	Weak transcription	Hela-S3	cervix
48	chr5:108086400-108087800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr5:108086400-108087800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr5:108086400-108087800	Weak transcription	NHEK	skin

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