Variant report

Variant	rs12189115
Chromosome Location	chr5:43049494-43049495
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43024503..43027034-chr5:43047989..43050249,2	K562	blood:
2	chr5:43045206..43050609-chr5:43062079..43064977,5	K562	blood:
3	chr5:43017972..43020885-chr5:43049194..43051100,2	MCF-7	breast:
4	chr5:43034726..43053192-chr5:43061725..43074206,66	K562	blood:
5	chr5:43036901..43050217-chr5:43060442..43069391,53	MCF-7	breast:
6	chr5:43014273..43017123-chr5:43048431..43050012,2	MCF-7	breast:
7	chr5:43048489..43050712-chr5:43051967..43053503,3	K562	blood:

Variant related genes	Relation type
ENSG00000172262	Chromatin interaction
ENSG00000272144	Chromatin interaction
ENSG00000177738	Chromatin interaction
ENSG00000251131	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11748821	0.81[ASN][1000 genomes]
rs62367725	0.86[EUR][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	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv534185	chr5:42804840-43067088	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	165 gene(s)	inside rSNPs	diseases
7	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
8	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43043600-43050600	Weak transcription	GM12878-XiMat	blood
2	chr5:43043600-43052600	Weak transcription	A549	lung
3	chr5:43043600-43058200	Weak transcription	Gastric	stomach
4	chr5:43043600-43058200	Weak transcription	HSMMtube	muscle
5	chr5:43043600-43061600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:43043600-43063800	Weak transcription	Aorta	Aorta
7	chr5:43043600-43064000	Weak transcription	NHEK	skin
8	chr5:43043800-43050600	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr5:43043800-43054400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr5:43043800-43057400	Weak transcription	Primary B cells from cord blood	blood
11	chr5:43043800-43058000	Weak transcription	HepG2	liver
12	chr5:43043800-43061200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr5:43043800-43064000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr5:43044600-43052800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr5:43044800-43050600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr5:43044800-43051200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:43044800-43052600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:43044800-43052600	Weak transcription	Placenta	Placenta
19	chr5:43044800-43058200	Weak transcription	Lung	lung
20	chr5:43044800-43059400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr5:43044800-43064000	Weak transcription	Right Ventricle	heart
22	chr5:43044800-43064200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr5:43044800-43064400	Weak transcription	Brain Substantia Nigra	brain
24	chr5:43045000-43052400	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr5:43045000-43061400	Weak transcription	NHLF	lung
26	chr5:43045000-43063800	Weak transcription	Adipose Nuclei	Adipose
27	chr5:43045000-43064200	Weak transcription	Primary B cells from peripheral blood	blood
28	chr5:43045000-43064400	Weak transcription	Esophagus	oesophagus
29	chr5:43045200-43049800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr5:43045200-43053400	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr5:43045200-43053400	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr5:43045400-43051200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr5:43045400-43053400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr5:43045400-43058600	Weak transcription	Pancreas	Pancrea
35	chr5:43045400-43061400	Weak transcription	Hela-S3	cervix
36	chr5:43045400-43064200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr5:43045400-43066000	Weak transcription	Spleen	Spleen
38	chr5:43045600-43051000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr5:43045600-43058800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr5:43045600-43061000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr5:43045600-43063600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr5:43045800-43050000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr5:43045800-43053800	Weak transcription	Small Intestine	intestine
44	chr5:43046200-43049600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr5:43046400-43050800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr5:43046600-43052600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr5:43046600-43063800	Weak transcription	Left Ventricle	heart
48	chr5:43047200-43050800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:43047400-43050400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr5:43047400-43052000	Weak transcription	Primary T cells fromperipheralblood	blood

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