Variant report

Variant	rs56220434
Chromosome Location	chr14:55095335-55095336
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55095294..55097412-chr14:55097542..55099837,2	K562	blood:
2	chr14:55094194..55096003-chr14:55099035..55101597,2	MCF-7	breast:
3	chr14:55094085..55095641-chr14:55105830..55108164,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs17127681	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17253494	1.00[ASN][1000 genomes]
rs17253556	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17832209	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1957888	1.00[ASN][1000 genomes]
rs1998671	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2147537	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28455122	1.00[ASN][1000 genomes]
rs4548794	1.00[ASN][1000 genomes]
rs4898840	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55742724	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55816518	1.00[ASN][1000 genomes]
rs56110021	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56133056	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56294338	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59630936	1.00[ASN][1000 genomes]
rs61975126	1.00[ASN][1000 genomes]
rs61975137	1.00[ASN][1000 genomes]
rs880120	0.91[AMR][1000 genomes];1.00[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	nsv974464	chr14:55092217-55152792	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55070400-55116200	Weak transcription	HMEC	breast
2	chr14:55084600-55103000	Weak transcription	NHEK	skin
3	chr14:55089600-55095400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr14:55092600-55095400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:55092800-55095400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:55093400-55102800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:55093600-55095600	Enhancers	Fetal Muscle Leg	muscle
8	chr14:55093600-55095800	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr14:55093800-55095400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:55093800-55095400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr14:55094000-55095400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr14:55094000-55095400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr14:55094000-55095400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr14:55094000-55095400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr14:55094000-55095600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
16	chr14:55094000-55096000	Enhancers	Psoas Muscle	Psoas
17	chr14:55094200-55095400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr14:55094200-55095400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr14:55094200-55095400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr14:55094200-55095400	Flanking Active TSS	Brain Substantia Nigra	brain
21	chr14:55094200-55095400	Enhancers	Placenta Amnion	Placenta Amnion
22	chr14:55094200-55095400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr14:55094200-55095400	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr14:55094200-55095400	Flanking Active TSS	GM12878-XiMat	blood
25	chr14:55094200-55095600	Enhancers	Fetal Brain Female	brain
26	chr14:55094200-55095600	Enhancers	Stomach Mucosa	stomach
27	chr14:55094200-55096000	Enhancers	Colonic Mucosa	Colon
28	chr14:55094400-55095400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr14:55094400-55096000	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr14:55094400-55098000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:55094400-55102600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr14:55094600-55095400	Flanking Active TSS	Brain Cingulate Gyrus	brain
33	chr14:55094600-55095400	Flanking Active TSS	Fetal Heart	heart
34	chr14:55094600-55095400	Enhancers	Fetal Intestine Small	intestine
35	chr14:55094800-55095400	Flanking Active TSS	Fetal Brain Male	brain
36	chr14:55094800-55095400	Enhancers	Fetal Kidney	kidney
37	chr14:55094800-55095400	Enhancers	Lung	lung
38	chr14:55094800-55095400	Enhancers	Right Atrium	heart
39	chr14:55094800-55095600	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr14:55094800-55096000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:55094800-55096000	Enhancers	Small Intestine	intestine
42	chr14:55094800-55096800	Enhancers	Muscle Satellite Cultured Cells	--
43	chr14:55095000-55095400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr14:55095000-55095400	Enhancers	Fetal Muscle Trunk	muscle
45	chr14:55095000-55095400	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr14:55095000-55095400	Enhancers	NH-A	brain
47	chr14:55095000-55095600	Enhancers	Liver	Liver
48	chr14:55095000-55095800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr14:55095000-55096000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr14:55095000-55096000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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