Variant report

Variant	rs61992870
Chromosome Location	chr14:78137126-78137127
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:78129873..78132369-chr14:78135143..78137756,2	MCF-7	breast:
2	chr14:78136536..78139253-chr14:78155471..78158284,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1030151	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs17106259	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs45611739	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4899669	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4899671	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4899672	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4903628	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4903630	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57485881	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs57654091	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs58390480	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61990684	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs61990686	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs61990690	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs61990695	0.85[AMR][1000 genomes]
rs61990855	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61990856	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61992865	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61992869	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61992912	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61992917	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61992919	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61992921	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61993669	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61993672	0.81[EUR][1000 genomes]
rs6574390	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7143265	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7143382	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7147748	0.92[EUR][1000 genomes]
rs7152638	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7156186	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs7156905	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7160307	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8014720	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61992870	RPL21P10	cis	Muscle Skeletal	GTEx

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78120600-78138200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr14:78121400-78139800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr14:78121800-78139800	Weak transcription	Gastric	stomach
4	chr14:78122000-78139600	Weak transcription	Fetal Intestine Large	intestine
5	chr14:78122000-78139800	Weak transcription	Pancreas	Pancrea
6	chr14:78123000-78137400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr14:78123400-78138800	Weak transcription	Liver	Liver
8	chr14:78123800-78139000	Weak transcription	Left Ventricle	heart
9	chr14:78125400-78139800	Weak transcription	Right Ventricle	heart
10	chr14:78126600-78138000	Weak transcription	Primary B cells from cord blood	blood
11	chr14:78126800-78138800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr14:78126800-78139000	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr14:78126800-78139800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr14:78126800-78139800	Weak transcription	Spleen	Spleen
15	chr14:78127400-78138800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr14:78127400-78139800	Weak transcription	Lung	lung
17	chr14:78127400-78173200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr14:78127600-78137400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr14:78127600-78138600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr14:78127600-78138800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr14:78127600-78138800	Weak transcription	Brain Anterior Caudate	brain
22	chr14:78127600-78139000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr14:78127600-78139200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr14:78127600-78139200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr14:78127600-78139800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr14:78127600-78140000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr14:78127600-78140000	Weak transcription	Esophagus	oesophagus
28	chr14:78127800-78138000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:78127800-78138600	Weak transcription	Brain Hippocampus Middle	brain
30	chr14:78127800-78139600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr14:78127800-78139800	Weak transcription	Brain Germinal Matrix	brain
32	chr14:78128000-78138000	Weak transcription	Fetal Brain Female	brain
33	chr14:78128000-78138600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr14:78128000-78138800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr14:78128000-78139000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr14:78128000-78157800	Weak transcription	Fetal Brain Male	brain
37	chr14:78128200-78139600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr14:78128800-78138800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr14:78129000-78138800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr14:78129000-78138800	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr14:78129000-78139800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:78129200-78139600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr14:78129800-78147600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr14:78130000-78138800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr14:78130000-78138800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr14:78130000-78139800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr14:78130200-78139400	Weak transcription	HUVEC	blood vessel
48	chr14:78130200-78139600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr14:78130400-78137800	Weak transcription	Placenta	Placenta
50	chr14:78130400-78139200	Weak transcription	Stomach Smooth Muscle	stomach

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