Variant report

Variant	rs28558467
Chromosome Location	chr14:56053865-56053866
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:56052261..56055376-chr14:56058166..56061190,4	K562	blood:
2	chr14:56053518..56055259-chr14:56070896..56073206,2	MCF-7	breast:
3	chr14:56047540..56051954-chr14:56053859..56059782,6	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10135426	0.95[AFR][1000 genomes]
rs10135509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10147380	0.95[AFR][1000 genomes]
rs10148188	1.00[EUR][1000 genomes]
rs13379151	0.95[AFR][1000 genomes]
rs13379264	1.00[EUR][1000 genomes]
rs28366673	1.00[EUR][1000 genomes]
rs28373835	1.00[EUR][1000 genomes]
rs28534706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28656140	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901960	chr14:55853724-56085130	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv901961	chr14:55853724-56101879	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv901962	chr14:55862956-56101879	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv901963	chr14:55871452-56085130	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv901964	chr14:55871452-56101879	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv1051564	chr14:55895610-56130788	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv542103	chr14:55895610-56130788	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv901965	chr14:55976428-56101879	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56048200-56054200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr14:56048200-56068400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:56048400-56055200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr14:56048400-56056000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr14:56048400-56068400	Weak transcription	Esophagus	oesophagus
6	chr14:56048400-56086000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:56048600-56054000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr14:56048600-56055400	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr14:56048600-56055400	Enhancers	Liver	Liver
10	chr14:56048600-56058400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr14:56048600-56060400	Weak transcription	Brain Substantia Nigra	brain
12	chr14:56048600-56070800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr14:56048800-56055000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr14:56049200-56055200	Enhancers	Primary T cells from cord blood	blood
15	chr14:56050000-56056000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr14:56050000-56056400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr14:56050400-56056200	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr14:56050400-56056400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr14:56050600-56055000	Enhancers	A549	lung
20	chr14:56051000-56055000	Weak transcription	Fetal Muscle Leg	muscle
21	chr14:56051000-56056800	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr14:56051200-56057200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr14:56051200-56057600	Weak transcription	Spleen	Spleen
24	chr14:56051200-56058000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr14:56051200-56060200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr14:56051200-56066200	Weak transcription	Colonic Mucosa	Colon
27	chr14:56051200-56069000	Weak transcription	Primary B cells from cord blood	blood
28	chr14:56051400-56055400	Enhancers	Hela-S3	cervix
29	chr14:56051400-56056000	Enhancers	Fetal Heart	heart
30	chr14:56051400-56060200	Weak transcription	K562	blood
31	chr14:56051600-56054000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr14:56051600-56054000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr14:56051600-56054200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr14:56051600-56054600	Weak transcription	Fetal Intestine Large	intestine
35	chr14:56051600-56056400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr14:56051600-56059400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr14:56051600-56061600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr14:56051800-56055200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr14:56051800-56056200	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr14:56052000-56054000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr14:56052000-56056200	Enhancers	NHEK	skin
42	chr14:56052000-56056400	Enhancers	NHLF	lung
43	chr14:56052000-56066200	Weak transcription	Pancreas	Pancrea
44	chr14:56052000-56068400	Weak transcription	Left Ventricle	heart
45	chr14:56052000-56080200	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr14:56052200-56056200	Enhancers	HepG2	liver
47	chr14:56052200-56056400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr14:56052400-56054400	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr14:56052400-56054400	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr14:56052400-56054600	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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