Variant report

Variant	rs61990718
Chromosome Location	chr14:78271094-78271095
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	chr14:78269397..78271453-chr14:78289633..78292223,2	K562	blood:
2	chr14:78269599..78272044-chr14:78273167..78277350,3	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1030151	0.94[EUR][1000 genomes]
rs1030152	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17106259	0.93[EUR][1000 genomes]
rs17106364	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45519831	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs45611739	0.93[EUR][1000 genomes]
rs4899669	0.83[EUR][1000 genomes]
rs4899671	0.83[EUR][1000 genomes]
rs4899672	0.83[EUR][1000 genomes]
rs4903628	0.83[EUR][1000 genomes]
rs4903630	0.83[EUR][1000 genomes]
rs4903633	0.89[EUR][1000 genomes]
rs57485881	1.00[EUR][1000 genomes]
rs57654091	0.94[EUR][1000 genomes]
rs58390480	0.83[EUR][1000 genomes]
rs60228583	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61435552	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61990683	0.93[EUR][1000 genomes]
rs61990684	0.94[EUR][1000 genomes]
rs61990686	1.00[EUR][1000 genomes]
rs61990688	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61990689	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61990690	1.00[EUR][1000 genomes]
rs61990695	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61990716	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61990717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61990719	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61990721	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61990722	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61992865	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61992869	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61992912	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61992917	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61992919	0.83[EUR][1000 genomes]
rs61992921	0.86[EUR][1000 genomes]
rs61993669	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61993672	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6574390	0.93[EUR][1000 genomes]
rs7143265	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7143382	0.83[EUR][1000 genomes]
rs7146446	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7147748	0.83[EUR][1000 genomes]
rs7152638	0.80[EUR][1000 genomes]
rs7156186	1.00[EUR][1000 genomes]
rs7156905	0.90[EUR][1000 genomes]
rs7160307	0.83[EUR][1000 genomes]
rs8007598	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8014720	0.83[EUR][1000 genomes]
rs8019064	0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv2754594	chr14:78222798-78275549	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs61990718	RPL21P10	cis	Muscle Skeletal	GTEx
rs61990718	RPL21P10	cis	Artery Tibial	GTEx

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78267200-78271800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:78267200-78272400	Weak transcription	Left Ventricle	heart
3	chr14:78267200-78284800	Weak transcription	Brain Angular Gyrus	brain
4	chr14:78267200-78285200	Weak transcription	Colon Smooth Muscle	Colon
5	chr14:78267200-78285200	Weak transcription	Fetal Stomach	stomach
6	chr14:78267200-78285400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr14:78267200-78285400	Weak transcription	Lung	lung
8	chr14:78267200-78288200	Weak transcription	Spleen	Spleen
9	chr14:78267200-78288800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:78267200-78304200	Weak transcription	HSMMtube	muscle
11	chr14:78267200-78310800	Weak transcription	Esophagus	oesophagus
12	chr14:78267400-78272800	Weak transcription	Stomach Mucosa	stomach
13	chr14:78267400-78285000	Weak transcription	Brain Hippocampus Middle	brain
14	chr14:78267400-78285000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr14:78267400-78285200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr14:78267400-78285400	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr14:78267600-78285000	Weak transcription	Primary T cells from cord blood	blood
18	chr14:78267600-78285400	Weak transcription	Brain Substantia Nigra	brain
19	chr14:78267800-78285400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:78268800-78272600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr14:78268800-78272800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr14:78269800-78274400	Weak transcription	K562	blood
23	chr14:78270000-78272400	Weak transcription	Psoas Muscle	Psoas
24	chr14:78270400-78271400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr14:78270800-78271400	Enhancers	H1 Cell Line	embryonic stem cell
26	chr14:78270800-78288400	Weak transcription	Fetal Intestine Small	intestine
27	chr14:78270800-78288800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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