Variant report

Variant	rs28593675
Chromosome Location	chr14:69130981-69130982
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69128890..69132387-chr14:69257388..69259950,3	K562	blood:
2	chr14:69113345..69115393-chr14:69129632..69132510,2	K562	blood:
3	chr14:69130934..69132672-chr14:69136285..69137846,2	MCF-7	breast:
4	chr14:69128588..69133050-chr14:69253079..69257196,5	MCF-7	breast:
5	chr14:69130068..69132761-chr14:69260724..69262933,2	MCF-7	breast:
6	chr14:69130772..69132590-chr14:69251342..69252982,2	MCF-7	breast:
7	chr14:69122826..69132436-chr14:69256721..69264610,21	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

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

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

rs_ID	r²[population]
rs10142000	1.00[AMR][1000 genomes]
rs10149709	1.00[AMR][1000 genomes]
rs10150973	0.81[AFR][1000 genomes]
rs10220656	1.00[AMR][1000 genomes]
rs17106128	1.00[AMR][1000 genomes]
rs17106140	1.00[AMR][1000 genomes]
rs28480157	1.00[AMR][1000 genomes]
rs28578014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9323517	1.00[AMR][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	esv1798800	chr14:69114353-69131030	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69120800-69139800	Enhancers	Fetal Muscle Leg	muscle
2	chr14:69122000-69136000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr14:69122200-69131200	Weak transcription	Small Intestine	intestine
4	chr14:69122800-69133600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr14:69122800-69133800	Weak transcription	Primary B cells from cord blood	blood
6	chr14:69123000-69137800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr14:69123200-69131000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr14:69124800-69131800	Enhancers	Spleen	Spleen
9	chr14:69126600-69131000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr14:69126600-69131200	Weak transcription	Brain Anterior Caudate	brain
11	chr14:69126600-69131400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr14:69126600-69133000	Weak transcription	Gastric	stomach
13	chr14:69126600-69135000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:69126600-69136000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:69126800-69131000	Weak transcription	Fetal Kidney	kidney
16	chr14:69126800-69131200	Weak transcription	Esophagus	oesophagus
17	chr14:69126800-69131200	Weak transcription	Right Atrium	heart
18	chr14:69126800-69131800	Weak transcription	Fetal Intestine Large	intestine
19	chr14:69127000-69131200	Weak transcription	Fetal Intestine Small	intestine
20	chr14:69127000-69132400	Weak transcription	Fetal Thymus	thymus
21	chr14:69127400-69133600	Weak transcription	Pancreas	Pancrea
22	chr14:69127800-69131200	Weak transcription	Left Ventricle	heart
23	chr14:69128000-69134400	Enhancers	Fetal Heart	heart
24	chr14:69128200-69131800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr14:69128400-69135200	Enhancers	Muscle Satellite Cultured Cells	--
26	chr14:69128400-69137800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr14:69128600-69136400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr14:69128800-69135000	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr14:69129000-69131000	Weak transcription	Fetal Lung	lung
30	chr14:69129000-69131200	Weak transcription	Right Ventricle	heart
31	chr14:69129000-69131800	Weak transcription	Aorta	Aorta
32	chr14:69129000-69140200	Enhancers	NHDF-Ad	bronchial
33	chr14:69129200-69132800	Enhancers	Brain Cingulate Gyrus	brain
34	chr14:69129200-69133200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr14:69129200-69137600	Enhancers	NHLF	lung
36	chr14:69129200-69140000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr14:69129400-69131200	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr14:69129400-69131200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr14:69129400-69132600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr14:69129600-69131000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr14:69129600-69131600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr14:69129800-69140600	Enhancers	Colon Smooth Muscle	Colon
43	chr14:69130000-69131000	Flanking Active TSS	NH-A	brain
44	chr14:69130000-69131200	Enhancers	HepG2	liver
45	chr14:69130000-69131400	Flanking Active TSS	GM12878-XiMat	blood
46	chr14:69130000-69133600	Weak transcription	Lung	lung
47	chr14:69130000-69134400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr14:69130000-69135000	Enhancers	Adipose Nuclei	Adipose
49	chr14:69130200-69131200	Weak transcription	Placenta	Placenta
50	chr14:69130200-69131200	Weak transcription	Fetal Stomach	stomach

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