Variant report

Variant	rs8030179
Chromosome Location	chr15:41929220-41929221
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:41926831..41929447-chr15:41939833..41942397,2	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10152332	0.89[ASN][1000 genomes]
rs10152364	0.89[ASN][1000 genomes]
rs10775122	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10775123	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10775124	0.89[ASN][1000 genomes]
rs1081022	1.00[CEU][hapmap]
rs11070345	0.89[ASN][1000 genomes]
rs11070347	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs11632100	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11634840	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11639146	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11639249	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1197704	0.85[CEU][hapmap];0.90[CHB][hapmap]
rs1197772	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12148330	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs12441249	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.93[YRI][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12900295	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12902548	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12915325	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs12916525	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12916992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16972089	0.93[CEU][hapmap]
rs1867416	0.86[ASN][1000 genomes]
rs1867417	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs1880937	0.83[ASN][1000 genomes]
rs1899819	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1899820	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1899821	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1918314	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs2009310	0.80[ASN][1000 genomes]
rs2141141	0.89[ASN][1000 genomes]
rs2178004	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs2250964	0.83[ASN][1000 genomes]
rs2577947	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs2577950	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs2577951	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2577953	0.83[ASN][1000 genomes]
rs2577954	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs2577955	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2577959	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs2605570	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs2695162	0.83[ASN][1000 genomes]
rs2695163	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2695164	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs2695168	0.81[ASN][1000 genomes]
rs2695169	0.93[CEU][hapmap];0.83[ASN][1000 genomes]
rs2918051	0.83[ASN][1000 genomes]
rs2925337	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs4244585	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4270151	0.82[ASN][1000 genomes]
rs4371125	0.90[CHB][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4465584	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs4923908	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4924568	1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4924571	0.89[ASN][1000 genomes]
rs4924572	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs62002069	0.89[ASN][1000 genomes]
rs6493008	0.83[ASN][1000 genomes]
rs7164209	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7169496	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7169668	0.89[ASN][1000 genomes]
rs7176474	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7177232	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7177911	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7178205	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs8027390	0.89[ASN][1000 genomes]
rs8028886	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8034261	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs8038148	0.82[JPT][hapmap]
rs8038783	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8039440	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][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	nsv1052902	chr15:41869277-41951572	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8030179	MGA	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41913800-41939400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr15:41914200-41935800	Weak transcription	Gastric	stomach
3	chr15:41924600-41934200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr15:41924800-41937400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr15:41924800-41940400	Weak transcription	Brain Substantia Nigra	brain
6	chr15:41924800-41940400	Weak transcription	Fetal Kidney	kidney
7	chr15:41925000-41935000	Weak transcription	Brain Hippocampus Middle	brain
8	chr15:41925000-41937600	Weak transcription	Pancreas	Pancrea
9	chr15:41925000-41938000	Weak transcription	Colon Smooth Muscle	Colon
10	chr15:41925000-41952200	Weak transcription	Ovary	ovary
11	chr15:41927000-41938800	Weak transcription	A549	lung
12	chr15:41927000-41939400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr15:41927000-41951800	Weak transcription	Hela-S3	cervix
14	chr15:41927200-41935600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr15:41927200-41939000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr15:41929000-41929800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr15:41929000-41930000	Enhancers	HepG2	liver
18	chr15:41929200-41929400	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr15:41929200-41929800	Enhancers	Fetal Intestine Large	intestine
20	chr15:41929200-41929800	Enhancers	Fetal Intestine Small	intestine
21	chr15:41929200-41929800	Enhancers	Sigmoid Colon	Sigmoid Colon

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