Variant report

Variant	rs55954221
Chromosome Location	chr14:70098566-70098567
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70097243..70099624-chr14:70232929..70235434,2	K562	blood:
2	chr14:70091590..70094209-chr14:70097904..70100674,2	MCF-7	breast:
3	chr14:70090076..70092000-chr14:70096449..70098698,2	MCF-7	breast:
4	chr14:70096492..70098988-chr14:70099076..70100587,2	MCF-7	breast:
5	chr14:70095845..70098829-chr14:70103147..70105853,3	K562	blood:
6	chr14:70096444..70099112-chr14:70101030..70103502,2	K562	blood:

Variant related genes	Relation type
ENSG00000100650	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1275832	1.00[AMR][1000 genomes]
rs17107164	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17107165	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17107166	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2783512	1.00[AMR][1000 genomes]
rs56192566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57105079	1.00[AMR][1000 genomes]
rs61636155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060225	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060242	0.83[AFR][1000 genomes]
rs74060243	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060250	1.00[AMR][1000 genomes]
rs9671513	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70080400-70102800	Weak transcription	Fetal Brain Female	brain
2	chr14:70087200-70100000	Weak transcription	NHEK	skin
3	chr14:70088000-70098800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr14:70088600-70099200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:70090400-70098600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr14:70091800-70101000	Enhancers	Left Ventricle	heart
7	chr14:70092400-70100000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:70092400-70101600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr14:70092600-70099600	Enhancers	Primary B cells from cord blood	blood
10	chr14:70092800-70098600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr14:70092800-70098800	Weak transcription	Colonic Mucosa	Colon
12	chr14:70092800-70099000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr14:70092800-70101800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:70092800-70102400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr14:70093000-70099400	Weak transcription	Thymus	Thymus
16	chr14:70093000-70099600	Enhancers	Primary T cells fromperipheralblood	blood
17	chr14:70093000-70102800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr14:70093000-70103000	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr14:70093200-70099400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr14:70093200-70100200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:70093200-70102200	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr14:70093600-70098800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr14:70093800-70099000	Weak transcription	HUVEC	blood vessel
24	chr14:70093800-70107400	Enhancers	Primary B cells from peripheral blood	blood
25	chr14:70094600-70100800	Enhancers	Liver	Liver
26	chr14:70094800-70101200	Enhancers	Spleen	Spleen
27	chr14:70094800-70105600	Enhancers	Right Ventricle	heart
28	chr14:70094800-70106600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr14:70095000-70102400	Enhancers	Primary T cells from cord blood	blood
30	chr14:70095000-70102400	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr14:70095000-70102800	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr14:70095000-70104200	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr14:70095000-70106400	Enhancers	Brain Hippocampus Middle	brain
34	chr14:70095000-70106800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr14:70095200-70099400	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr14:70095200-70099800	Enhancers	Fetal Heart	heart
37	chr14:70095200-70101000	Enhancers	Fetal Intestine Large	intestine
38	chr14:70095200-70103000	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr14:70095400-70106600	Enhancers	Psoas Muscle	Psoas
40	chr14:70095400-70107000	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr14:70095600-70100800	Enhancers	Placenta	Placenta
42	chr14:70095600-70101000	Enhancers	Lung	lung
43	chr14:70095600-70105800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr14:70095600-70105800	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr14:70095600-70106800	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr14:70095800-70099400	Enhancers	Duodenum Mucosa	Duodenum
47	chr14:70095800-70100200	Enhancers	Fetal Thymus	thymus
48	chr14:70095800-70100800	Enhancers	Fetal Muscle Leg	muscle
49	chr14:70095800-70101400	Enhancers	NHLF	lung
50	chr14:70095800-70102400	Enhancers	Colon Smooth Muscle	Colon

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