Variant report

Variant	rs74089525
Chromosome Location	chr12:49884269-49884270
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:49759096..49761213-chr12:49881834..49884299,3	K562	blood:
2	chr12:49757995..49761023-chr12:49883452..49885795,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123352	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11168987	0.84[EUR][1000 genomes]
rs55841764	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57841760	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74088731	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs74088733	0.85[AFR][1000 genomes]
rs74089067	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs74089551	0.82[AMR][1000 genomes]
rs7955781	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7955792	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899068	chr12:49714103-49924637	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv832405	chr12:49720279-49910862	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv899069	chr12:49760499-49924637	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv899070	chr12:49811311-49941500	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv832406	chr12:49860693-50062136	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv518746	chr12:49870964-49924637	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49823000-49915800	Weak transcription	Primary B cells from cord blood	blood
2	chr12:49840200-49900600	Weak transcription	Pancreas	Pancrea
3	chr12:49850400-49911000	Weak transcription	K562	blood
4	chr12:49853200-49913400	Weak transcription	Thymus	Thymus
5	chr12:49856600-49890200	Weak transcription	Primary T cells from cord blood	blood
6	chr12:49856600-49890200	Weak transcription	Ovary	ovary
7	chr12:49856800-49898400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:49859400-49888600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:49869600-49890000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr12:49869600-49918400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:49870200-49884600	Weak transcription	Spleen	Spleen
12	chr12:49872200-49895000	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr12:49873000-49890400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr12:49873000-49918800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr12:49873200-49918600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:49873800-49904600	Weak transcription	Fetal Heart	heart
17	chr12:49874000-49889800	Weak transcription	Primary B cells from peripheral blood	blood
18	chr12:49874000-49904400	Weak transcription	Fetal Brain Male	brain
19	chr12:49874200-49890600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr12:49874800-49914200	Weak transcription	Fetal Kidney	kidney
21	chr12:49876400-49894800	Weak transcription	Fetal Intestine Large	intestine
22	chr12:49876400-49897600	Weak transcription	Small Intestine	intestine
23	chr12:49876400-49911200	Weak transcription	Adipose Nuclei	Adipose
24	chr12:49876600-49890000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr12:49876600-49893200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:49876800-49888400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr12:49876800-49890000	Weak transcription	NHLF	lung
28	chr12:49876800-49890200	Weak transcription	Fetal Thymus	thymus
29	chr12:49876800-49890400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:49876800-49898000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr12:49876800-49905200	Weak transcription	Right Ventricle	heart
32	chr12:49876800-49916200	Weak transcription	Psoas Muscle	Psoas
33	chr12:49877000-49893000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr12:49877000-49908800	Weak transcription	NHDF-Ad	bronchial
35	chr12:49877000-49909000	Weak transcription	Brain Germinal Matrix	brain
36	chr12:49877200-49885200	Weak transcription	Colon Smooth Muscle	Colon
37	chr12:49877600-49902000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:49877800-49885200	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr12:49877800-49889600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:49878000-49893600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr12:49878200-49892400	Weak transcription	Liver	Liver
42	chr12:49878600-49890200	Weak transcription	Brain Angular Gyrus	brain
43	chr12:49878600-49918600	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr12:49879600-49890000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr12:49880200-49893200	Weak transcription	Fetal Lung	lung
46	chr12:49880400-49885200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:49880400-49888400	Weak transcription	Duodenum Mucosa	Duodenum
48	chr12:49880400-49890200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr12:49880400-49916000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr12:49881000-49884600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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