Variant report

Variant	rs12883532
Chromosome Location	chr14:81635945-81635946
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81635245..81640402-chr14:81683793..81689293,8	MCF-7	breast:
2	chr14:81447196..81448849-chr14:81635444..81638287,2	MCF-7	breast:
3	chr14:81635464..81638481-chr14:81684307..81689009,9	K562	blood:
4	chr14:81634129..81641173-chr14:81683190..81688873,17	MCF-7	breast:
5	chr14:81635464..81641822-chr14:81682247..81689009,10	K562	blood:

Variant related genes	Relation type
ENSG00000258915	Chromatin interaction
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10131728	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12878339	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12878477	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12878503	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12879576	0.92[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12880377	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12880414	1.00[ASN][1000 genomes]
rs12880512	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12883359	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12891828	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12893436	1.00[ASN][1000 genomes]
rs12894001	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12894318	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12895990	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17630746	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2371566	0.82[EUR][1000 genomes]
rs35446669	1.00[ASN][1000 genomes]
rs4592586	0.81[EUR][1000 genomes]

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	nsv832841	chr14:81588322-81743921	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81619600-81636000	Weak transcription	Psoas Muscle	Psoas
2	chr14:81629200-81636200	Weak transcription	Aorta	Aorta
3	chr14:81630000-81636000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr14:81631000-81636000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr14:81631000-81636000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr14:81631000-81636000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:81631000-81636000	Weak transcription	HMEC	breast
8	chr14:81631200-81636000	Weak transcription	Left Ventricle	heart
9	chr14:81631800-81636200	Weak transcription	K562	blood
10	chr14:81633400-81636000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr14:81633400-81636000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:81635000-81636000	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr14:81635000-81636000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr14:81635000-81636000	Enhancers	Fetal Thymus	thymus
15	chr14:81635200-81636000	Enhancers	Primary hematopoietic stem cells	blood
16	chr14:81635200-81636000	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr14:81635600-81636000	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr14:81635600-81636000	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr14:81635600-81636000	Enhancers	Primary T cells fromperipheralblood	blood
20	chr14:81635600-81636000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr14:81635600-81636000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr14:81635600-81636000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr14:81635600-81636000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr14:81635600-81636000	Enhancers	Brain Hippocampus Middle	brain
25	chr14:81635600-81636000	Enhancers	Fetal Intestine Small	intestine
26	chr14:81635600-81636000	Enhancers	Gastric	stomach
27	chr14:81635600-81636000	Enhancers	Pancreas	Pancrea
28	chr14:81635600-81636000	Enhancers	Stomach Mucosa	stomach
29	chr14:81635600-81636200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr14:81635600-81636400	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr14:81635600-81636800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr14:81635600-81637200	Active TSS	Brain Anterior Caudate	brain
33	chr14:81635800-81636000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr14:81635800-81636000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr14:81635800-81636000	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr14:81635800-81636000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr14:81635800-81636000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr14:81635800-81636000	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr14:81635800-81636000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr14:81635800-81636000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr14:81635800-81636000	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr14:81635800-81636000	Enhancers	Muscle Satellite Cultured Cells	--
43	chr14:81635800-81636000	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr14:81635800-81636000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr14:81635800-81636000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr14:81635800-81636000	Enhancers	Esophagus	oesophagus
47	chr14:81635800-81636000	Enhancers	Fetal Brain Female	brain
48	chr14:81635800-81636000	Enhancers	Fetal Heart	heart
49	chr14:81635800-81636000	Enhancers	Fetal Muscle Trunk	muscle
50	chr14:81635800-81636000	Enhancers	Fetal Muscle Leg	muscle

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