Variant report

Variant	rs12523597
Chromosome Location	chr5:95173881-95173882
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:95167615..95170613-chr5:95172553..95174092,2	MCF-7	breast:
2	chr5:94981172..94985318-chr5:95169805..95176246,5	MCF-7	breast:
3	chr5:95158093..95160900-chr5:95173063..95176588,5	MCF-7	breast:
4	chr5:95131346..95133321-chr5:95171352..95173975,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175449	Chromatin interaction
ENSG00000173221	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11135438	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11135440	0.84[EUR][1000 genomes]
rs11748451	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2546197	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2547999	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7726424	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7736003	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830409	chr5:95006686-95204496	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv882389	chr5:95144952-95173887	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer 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
4	esv3425626	chr5:95172396-95175894	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95171000-95175400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:95171200-95177800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:95171800-95174000	Weak transcription	Lung	lung
4	chr5:95171800-95174200	Weak transcription	Fetal Intestine Large	intestine
5	chr5:95171800-95175400	Weak transcription	Esophagus	oesophagus
6	chr5:95171800-95175600	Weak transcription	Gastric	stomach
7	chr5:95171800-95176200	Weak transcription	Placenta	Placenta
8	chr5:95171800-95177200	Weak transcription	Colonic Mucosa	Colon
9	chr5:95171800-95177600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:95171800-95178200	Weak transcription	Right Ventricle	heart
11	chr5:95171800-95178800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr5:95171800-95178800	Weak transcription	Left Ventricle	heart
13	chr5:95171800-95185800	Weak transcription	Pancreas	Pancrea
14	chr5:95172200-95174000	Weak transcription	Fetal Intestine Small	intestine
15	chr5:95172200-95174800	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr5:95172200-95180400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr5:95172400-95175200	Weak transcription	Stomach Mucosa	stomach
18	chr5:95172400-95175400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr5:95172400-95177400	Weak transcription	A549	lung
20	chr5:95172600-95174000	Enhancers	GM12878-XiMat	blood
21	chr5:95172600-95174400	Weak transcription	Primary B cells from cord blood	blood
22	chr5:95172600-95174600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr5:95172600-95174800	Weak transcription	Fetal Thymus	thymus
24	chr5:95172600-95175400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr5:95172600-95175600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr5:95172600-95176400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:95172600-95176400	Weak transcription	Primary B cells from peripheral blood	blood
28	chr5:95172600-95176600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:95172600-95176800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr5:95172600-95177000	Weak transcription	Adipose Nuclei	Adipose
31	chr5:95172600-95177200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr5:95172600-95177400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr5:95172600-95177600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr5:95172600-95177600	Weak transcription	Liver	Liver
35	chr5:95172600-95177600	Weak transcription	NHDF-Ad	bronchial
36	chr5:95172600-95177800	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr5:95172600-95177800	Weak transcription	HSMMtube	muscle
38	chr5:95172600-95177800	Weak transcription	Osteobl	bone
39	chr5:95172600-95178600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr5:95172600-95178600	Weak transcription	Spleen	Spleen
41	chr5:95172800-95175600	Weak transcription	Hela-S3	cervix
42	chr5:95172800-95176800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr5:95172800-95177000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr5:95172800-95177200	Weak transcription	NHLF	lung
45	chr5:95172800-95177400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr5:95172800-95177600	Weak transcription	HUVEC	blood vessel
47	chr5:95172800-95178000	Weak transcription	Dnd41	blood
48	chr5:95172800-95178200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr5:95172800-95178200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr5:95173000-95177600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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