Variant report

Variant	rs4553503
Chromosome Location	chr14:55118181-55118182
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ESR1	chr14:55117561-55118220	T-47D	breast:	n/a	chr14:55118108-55118125
2	ESR1	chr14:55117604-55118304	T-47D	breast:	n/a	chr14:55118108-55118125
3	ESR1	chr14:55117667-55118240	T-47D	breast:	n/a	chr14:55118108-55118125
4	ESR1	chr14:55117530-55118245	T-47D	breast:	n/a	chr14:55118108-55118125
5	POLR2A	chr14:55117008-55122149	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:55092055..55094669-chr14:55116255..55118768,2	MCF-7	breast:
2	chr14:55032662..55034220-chr14:55117546..55119356,2	MCF-7	breast:
3	chr14:55085013..55087133-chr14:55116843..55119397,2	K562	blood:
4	chr14:55031461..55035668-chr14:55117629..55122192,5	MCF-7	breast:

Variant related genes	Relation type
SAMD4A	TF binding region
ENSG00000020577	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12586646	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12586705	0.83[ASN][1000 genomes]
rs12888372	0.86[ASN][1000 genomes]
rs12890352	0.94[CHB][hapmap];0.91[JPT][hapmap]
rs17728293	0.87[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs2025130	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2358887	0.91[EUR][1000 genomes]
rs35399674	0.80[ASN][1000 genomes]
rs4898844	0.94[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs7142955	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7151563	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7155089	0.85[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.85[EUR][1000 genomes]
rs7158091	0.94[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs8011374	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs8022597	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs911621	0.86[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.83[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:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55107600-55121400	Weak transcription	Pancreas	Pancrea
2	chr14:55109600-55121400	Weak transcription	Spleen	Spleen
3	chr14:55109800-55119400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr14:55110800-55119600	Weak transcription	Lung	lung
5	chr14:55113200-55122000	Enhancers	Fetal Heart	heart
6	chr14:55114800-55118800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr14:55114800-55118800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:55114800-55120200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr14:55115400-55118400	Weak transcription	Brain Substantia Nigra	brain
10	chr14:55115800-55118600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr14:55116000-55118600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:55116000-55119400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr14:55116000-55121400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:55116200-55118600	Enhancers	HMEC	breast
15	chr14:55116200-55118800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr14:55116200-55122000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr14:55116400-55119600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:55116600-55118800	Enhancers	Stomach Smooth Muscle	stomach
19	chr14:55116600-55119000	Flanking Active TSS	A549	lung
20	chr14:55116600-55121600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:55116800-55119800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr14:55116800-55120000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr14:55117000-55118200	Enhancers	Right Ventricle	heart
24	chr14:55117000-55118400	Weak transcription	Brain Anterior Caudate	brain
25	chr14:55117000-55118600	Enhancers	Psoas Muscle	Psoas
26	chr14:55117000-55118800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr14:55117000-55119000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr14:55117000-55119200	Enhancers	Fetal Muscle Leg	muscle
29	chr14:55117000-55119400	Enhancers	Placenta Amnion	Placenta Amnion
30	chr14:55117000-55120000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:55117000-55121000	Enhancers	H9 Cell Line	embryonic stem cell
32	chr14:55117000-55121600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr14:55117000-55121600	Enhancers	Placenta	Placenta
34	chr14:55117200-55118200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr14:55117200-55118200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr14:55117200-55118400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr14:55117200-55119000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr14:55117200-55119800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:55117200-55120000	Enhancers	Fetal Stomach	stomach
40	chr14:55117200-55121600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr14:55117400-55118800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr14:55117400-55119000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr14:55117400-55119400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr14:55117600-55118200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr14:55117600-55118200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr14:55117600-55118200	Flanking Active TSS	NHDF-Ad	bronchial
47	chr14:55117600-55118400	Enhancers	NH-A	brain
48	chr14:55117600-55118400	Enhancers	NHEK	skin
49	chr14:55117600-55118600	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr14:55117600-55118600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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