Variant report

Variant	rs8014720
Chromosome Location	chr14:78146606-78146607
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:78145857..78148967-chr14:78171085..78175520,5	MCF-7	breast:
2	chr14:78145812..78147839-chr14:78160539..78163248,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100601	Chromatin interaction
ENSG00000258917	Chromatin interaction
ENSG00000119705	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1030151	1.00[CEU][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1030152	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17106259	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17106364	0.83[EUR][1000 genomes]
rs17752135	0.88[CEU][hapmap]
rs45519831	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs45611739	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4899669	0.94[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4899671	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4899672	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4903628	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4903630	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4903633	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs57485881	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs57654091	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58390480	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61435552	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61990683	0.86[EUR][1000 genomes]
rs61990684	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61990686	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61990688	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61990689	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61990690	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61990695	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61990716	0.83[EUR][1000 genomes]
rs61990717	0.83[EUR][1000 genomes]
rs61990718	0.83[EUR][1000 genomes]
rs61990721	0.80[EUR][1000 genomes]
rs61990722	0.80[EUR][1000 genomes]
rs61990855	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61990856	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61992865	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61992869	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61992870	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61992912	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61992917	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61992919	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61992921	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61993669	0.89[EUR][1000 genomes]
rs61993672	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6574390	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7143265	1.00[CEU][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7143382	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7146446	0.83[EUR][1000 genomes]
rs7147748	1.00[EUR][1000 genomes]
rs7152638	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7156186	1.00[CEU][hapmap];0.94[YRI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7156905	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7160307	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8007598	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8019064	0.81[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	nsv1053810	chr14:77987871-78148320	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2758362	chr14:78074180-78262572	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	esv2759998	chr14:78074180-78262572	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv2757575	chr14:78104897-78212462	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	esv34940	chr14:78104897-78222798	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv521287	chr14:78108003-78211225	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv869872	chr14:78119527-78161340	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	esv3693172	chr14:78130479-78152921	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8014720	RPL21P10	cis	Adipose Subcutaneous	GTEx
rs8014720	RPL21P10	cis	Muscle Skeletal	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78127400-78173200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:78128000-78157800	Weak transcription	Fetal Brain Male	brain
3	chr14:78129800-78147600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr14:78134200-78148000	Weak transcription	NH-A	brain
5	chr14:78134400-78163400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:78135200-78156200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr14:78136200-78148000	Weak transcription	HSMMtube	muscle
8	chr14:78136200-78162800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:78137800-78148400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr14:78137800-78161200	Weak transcription	Fetal Heart	heart
11	chr14:78138000-78146800	Strong transcription	Fetal Muscle Trunk	muscle
12	chr14:78138000-78147200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr14:78138000-78148000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr14:78138000-78171800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr14:78138200-78147600	Weak transcription	Psoas Muscle	Psoas
16	chr14:78138200-78148400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr14:78138200-78154400	Strong transcription	Dnd41	blood
18	chr14:78138800-78146800	Strong transcription	Liver	Liver
19	chr14:78138800-78147000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:78139000-78147600	Weak transcription	Small Intestine	intestine
21	chr14:78140200-78156600	Weak transcription	K562	blood
22	chr14:78140400-78147600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr14:78140400-78147600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr14:78140400-78157800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr14:78140400-78160400	Weak transcription	Fetal Kidney	kidney
26	chr14:78140400-78172400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:78140600-78147600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr14:78140600-78147800	Weak transcription	NHEK	skin
29	chr14:78140600-78158600	Weak transcription	Esophagus	oesophagus
30	chr14:78140600-78173200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:78140800-78147600	Weak transcription	Pancreas	Pancrea
32	chr14:78141200-78147600	Weak transcription	Gastric	stomach
33	chr14:78141200-78153600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr14:78141200-78160400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr14:78141200-78162800	Weak transcription	Colonic Mucosa	Colon
36	chr14:78141400-78147600	Weak transcription	Colon Smooth Muscle	Colon
37	chr14:78141400-78148600	Weak transcription	Primary hematopoietic stem cells	blood
38	chr14:78141400-78156400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr14:78141400-78156600	Weak transcription	Brain Substantia Nigra	brain
40	chr14:78141400-78157400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr14:78141600-78147600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr14:78141600-78147600	Weak transcription	Right Ventricle	heart
43	chr14:78141600-78148000	Weak transcription	A549	lung
44	chr14:78141600-78148000	Weak transcription	NHLF	lung
45	chr14:78141600-78148200	Weak transcription	NHDF-Ad	bronchial
46	chr14:78141600-78155800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr14:78141600-78156600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr14:78142200-78147600	Weak transcription	Brain Anterior Caudate	brain
49	chr14:78142200-78148000	Weak transcription	Aorta	Aorta
50	chr14:78142200-78148000	Weak transcription	Brain Cingulate Gyrus	brain

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