Variant report

Variant	rs12403514
Chromosome Location	chr1:184131326-184131327
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184129558..184131487-chr1:184136399..184138608,2	K562	blood:
2	chr1:184115719..184117386-chr1:184131211..184134180,2	MCF-7	breast:
3	chr1:184124153..184125884-chr1:184130179..184133095,2	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12406651	1.00[AFR][1000 genomes]
rs12735902	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1006655	chr1:183922288-184186677	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184121000-184132200	Weak transcription	HSMMtube	muscle
2	chr1:184121600-184132000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr1:184122600-184131600	Weak transcription	Fetal Stomach	stomach
4	chr1:184123000-184131400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr1:184123600-184132800	Weak transcription	Lung	lung
6	chr1:184123800-184132400	Weak transcription	Left Ventricle	heart
7	chr1:184127600-184135800	Enhancers	NHDF-Ad	bronchial
8	chr1:184128400-184135600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr1:184129600-184131800	Enhancers	NHEK	skin
10	chr1:184129600-184133000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:184129800-184131400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:184129800-184131400	Enhancers	Osteobl	bone
13	chr1:184129800-184131800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:184129800-184131800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:184129800-184134200	Enhancers	NHLF	lung
16	chr1:184130000-184131600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:184130000-184131800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:184130200-184132600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr1:184130200-184132800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr1:184130200-184133600	Weak transcription	Spleen	Spleen
21	chr1:184130200-184135200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:184130400-184132400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:184130400-184132600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr1:184130600-184132000	Enhancers	Adipose Nuclei	Adipose
25	chr1:184130600-184134000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:184130800-184132400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:184130800-184132600	Weak transcription	Right Atrium	heart
28	chr1:184130800-184132800	Weak transcription	Colon Smooth Muscle	Colon
29	chr1:184130800-184133000	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr1:184130800-184133600	Enhancers	GM12878-XiMat	blood
31	chr1:184131000-184131400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:184131000-184131400	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr1:184131000-184132000	Enhancers	Placenta	Placenta
34	chr1:184131200-184131800	Enhancers	Primary B cells from cord blood	blood
35	chr1:184131200-184131800	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr1:184131200-184131800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:184131200-184131800	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr1:184131200-184133800	Enhancers	Duodenum Mucosa	Duodenum
39	chr1:184131200-184134200	Enhancers	Fetal Muscle Leg	muscle

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