Variant report

Variant	rs1030152
Chromosome Location	chr14:78206148-78206149
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:78206025..78208064-chr14:78225282..78227652,3	K562	blood:
2	chr14:78206025..78208358-chr14:78225677..78227652,2	K562	blood:
3	chr14:78203883..78206555-chr14:78266429..78268356,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000063761	Chromatin interaction
ENSG00000100603	Chromatin interaction
ENSG00000197734	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1030151	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17106259	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17106364	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs45519831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45611739	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4899669	0.88[EUR][1000 genomes]
rs4899671	0.88[EUR][1000 genomes]
rs4899672	0.88[EUR][1000 genomes]
rs4903628	0.88[EUR][1000 genomes]
rs4903630	0.88[EUR][1000 genomes]
rs4903633	0.94[EUR][1000 genomes]
rs57485881	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57654091	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58390480	0.88[EUR][1000 genomes]
rs60228583	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61435552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61990683	0.99[EUR][1000 genomes]
rs61990684	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61990686	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61990688	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61990689	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61990690	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61990695	0.94[EUR][1000 genomes]
rs61990716	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61990717	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61990718	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61990719	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61990721	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61990722	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61990855	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61990856	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61992865	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61992869	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61992912	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61992917	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61992919	0.88[EUR][1000 genomes]
rs61992921	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61993669	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61993672	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6574390	0.99[EUR][1000 genomes]
rs7143265	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7143382	0.88[EUR][1000 genomes]
rs7146446	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7147748	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7152638	0.85[EUR][1000 genomes]
rs7156186	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7156905	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7160307	0.88[EUR][1000 genomes]
rs8007598	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8014720	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8019064	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv520021	chr14:78152921-78208294	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv1043788	chr14:78178490-78381190	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS 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 miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1030152	RPL21P10	cis	Muscle Skeletal	GTEx
rs1030152	RPL21P10	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78176200-78208400	Strong transcription	Primary T cells fromperipheralblood	blood
2	chr14:78176200-78224000	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr14:78176200-78225400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr14:78176400-78206200	Strong transcription	Fetal Thymus	thymus
5	chr14:78176400-78223400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr14:78176400-78224200	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr14:78176600-78213200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr14:78176600-78223200	Strong transcription	Fetal Muscle Leg	muscle
9	chr14:78176600-78224200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr14:78176800-78206200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr14:78176800-78207400	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr14:78176800-78208200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:78176800-78210800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr14:78176800-78221800	Strong transcription	Primary B cells from peripheral blood	blood
15	chr14:78176800-78222200	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr14:78177000-78206400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr14:78177000-78206400	Strong transcription	Fetal Intestine Large	intestine
18	chr14:78177000-78211000	Weak transcription	Stomach Mucosa	stomach
19	chr14:78177000-78222600	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr14:78177000-78224200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr14:78177200-78223800	Strong transcription	Dnd41	blood
22	chr14:78177400-78222400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr14:78177600-78206200	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr14:78181600-78208000	Strong transcription	Fetal Lung	lung
25	chr14:78190600-78213400	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr14:78192200-78215400	Weak transcription	Small Intestine	intestine
27	chr14:78196200-78217800	Strong transcription	Fetal Stomach	stomach
28	chr14:78199000-78225200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr14:78199200-78212400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:78199200-78215800	Weak transcription	Esophagus	oesophagus
31	chr14:78199400-78211800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr14:78199600-78225000	Weak transcription	Fetal Heart	heart
33	chr14:78200800-78206200	Strong transcription	HepG2	liver
34	chr14:78200800-78212800	Strong transcription	Primary T cells from cord blood	blood
35	chr14:78201200-78212600	Weak transcription	Gastric	stomach
36	chr14:78201600-78226600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr14:78203400-78215400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr14:78203400-78217400	Weak transcription	Aorta	Aorta
39	chr14:78203800-78206600	Strong transcription	Fetal Intestine Small	intestine
40	chr14:78203800-78208800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr14:78203800-78211000	Weak transcription	HMEC	breast
42	chr14:78203800-78219400	Weak transcription	Fetal Brain Male	brain
43	chr14:78204000-78212000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr14:78204000-78215200	Weak transcription	Hela-S3	cervix
45	chr14:78204600-78207400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr14:78205000-78211800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr14:78205000-78213800	Weak transcription	Colonic Mucosa	Colon
48	chr14:78205000-78215800	Weak transcription	Right Ventricle	heart
49	chr14:78205000-78216000	Weak transcription	Psoas Muscle	Psoas
50	chr14:78205200-78207800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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