Variant report

Variant	rs2024945
Chromosome Location	chr14:69130579-69130580
allele	G/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	chr14:69128588..69133050-chr14:69253079..69257196,5	MCF-7	breast:
4	chr14:69130068..69132761-chr14:69260724..69262933,2	MCF-7	breast:
5	chr14:69122826..69132436-chr14:69256721..69264610,21	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10150973	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17106094	1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs17106118	0.97[ASN][1000 genomes]
rs17756800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:84 , 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	chr14:69123000-69130600	Weak transcription	Liver	Liver
7	chr14:69123000-69137800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr14:69123200-69131000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr14:69124800-69131800	Enhancers	Spleen	Spleen
10	chr14:69126600-69131000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr14:69126600-69131200	Weak transcription	Brain Anterior Caudate	brain
12	chr14:69126600-69131400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr14:69126600-69133000	Weak transcription	Gastric	stomach
14	chr14:69126600-69135000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr14:69126600-69136000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:69126800-69131000	Weak transcription	Fetal Kidney	kidney
17	chr14:69126800-69131200	Weak transcription	Esophagus	oesophagus
18	chr14:69126800-69131200	Weak transcription	Right Atrium	heart
19	chr14:69126800-69131800	Weak transcription	Fetal Intestine Large	intestine
20	chr14:69127000-69131200	Weak transcription	Fetal Intestine Small	intestine
21	chr14:69127000-69132400	Weak transcription	Fetal Thymus	thymus
22	chr14:69127400-69133600	Weak transcription	Pancreas	Pancrea
23	chr14:69127800-69131200	Weak transcription	Left Ventricle	heart
24	chr14:69128000-69134400	Enhancers	Fetal Heart	heart
25	chr14:69128200-69131800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr14:69128400-69135200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr14:69128400-69137800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr14:69128600-69136400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr14:69128800-69135000	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr14:69129000-69131000	Weak transcription	Fetal Lung	lung
31	chr14:69129000-69131200	Weak transcription	Right Ventricle	heart
32	chr14:69129000-69131800	Weak transcription	Aorta	Aorta
33	chr14:69129000-69140200	Enhancers	NHDF-Ad	bronchial
34	chr14:69129200-69132800	Enhancers	Brain Cingulate Gyrus	brain
35	chr14:69129200-69133200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr14:69129200-69137600	Enhancers	NHLF	lung
37	chr14:69129200-69140000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr14:69129400-69131200	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr14:69129400-69131200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr14:69129400-69132600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr14:69129600-69131000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr14:69129600-69131600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr14:69129800-69130800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr14:69129800-69140600	Enhancers	Colon Smooth Muscle	Colon
45	chr14:69130000-69130600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr14:69130000-69130600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
47	chr14:69130000-69130600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr14:69130000-69130600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr14:69130000-69130600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr14:69130000-69130600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

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