Variant report

Variant	rs7531032
Chromosome Location	chr1:174998458-174998459
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:174978883..174980648-chr1:174996369..174998618,2	K562	blood:
2	chr1:174996789..174998917-chr1:175115886..175117632,2	K562	blood:
3	chr1:174991178..174995675-chr1:174996166..175000159,7	K562	blood:
4	chr1:174996925..174999864-chr1:175103834..175106486,2	K562	blood:
5	chr1:174967869..174969561-chr1:174997515..175001267,3	K562	blood:
6	chr1:174997229..174999429-chr1:175092818..175094632,2	K562	blood:
7	chr1:174995889..174998745-chr1:175066579..175068389,2	K562	blood:
8	chr1:174992825..174995632-chr1:174996081..174999511,5	MCF-7	breast:
9	chr1:174998349..175001108-chr1:175001505..175005015,4	K562	blood:
10	chr1:174997750..174999766-chr1:175188869..175190673,2	MCF-7	breast:
11	chr1:174998367..175000199-chr1:175006049..175008885,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000120333	Chromatin interaction
ENSG00000206659	Chromatin interaction
ENSG00000116161	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs1012182	0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs1034462	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1058741	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798324	0.81[ASN][1000 genomes]
rs10798327	0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs10912843	0.88[JPT][hapmap]
rs10912853	0.88[JPT][hapmap]
rs10912857	0.91[ASN][1000 genomes]
rs10912871	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11800350	0.81[ASN][1000 genomes]
rs11809803	0.81[ASN][1000 genomes]
rs11810508	0.81[ASN][1000 genomes]
rs12063093	0.81[ASN][1000 genomes]
rs12078839	0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs12094876	0.88[JPT][hapmap]
rs1231826	0.81[ASN][1000 genomes]
rs1231827	0.81[ASN][1000 genomes]
rs1231829	0.88[JPT][hapmap]
rs1613634	0.81[ASN][1000 genomes]
rs1618207	0.81[ASN][1000 genomes]
rs1653630	0.81[ASN][1000 genomes]
rs1653634	0.81[ASN][1000 genomes]
rs16847624	0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs17302033	0.88[JPT][hapmap]
rs17302165	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17302367	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1754352	0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs1754353	0.81[ASN][1000 genomes]
rs1793292	0.81[ASN][1000 genomes]
rs1793298	0.81[ASN][1000 genomes]
rs1793305	0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs1793316	0.81[ASN][1000 genomes]
rs1793318	0.81[ASN][1000 genomes]
rs1883139	0.81[ASN][1000 genomes]
rs1894199	0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs1894201	0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs1894680	0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs2003378	0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs2157541	0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs2157567	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2183202	0.81[ASN][1000 genomes]
rs2981893	0.81[ASN][1000 genomes]
rs2981896	0.81[ASN][1000 genomes]
rs2987872	0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs2987873	0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs2987875	0.81[ASN][1000 genomes]
rs2987876	0.81[ASN][1000 genomes]
rs3118982	0.81[ASN][1000 genomes]
rs3118986	0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs3118987	0.88[JPT][hapmap]
rs34390425	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3766697	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4651205	0.88[JPT][hapmap]
rs4651231	0.88[JPT][hapmap]
rs4651235	0.81[ASN][1000 genomes]
rs4652797	0.81[ASN][1000 genomes]
rs55722026	0.85[ASN][1000 genomes]
rs55774740	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425298	0.81[ASN][1000 genomes]
rs6425300	0.81[ASN][1000 genomes]
rs6425301	0.81[ASN][1000 genomes]
rs6425302	0.88[JPT][hapmap]
rs6670315	0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs6684515	0.88[JPT][hapmap]
rs6686872	0.81[ASN][1000 genomes]
rs6687616	0.81[ASN][1000 genomes]
rs6690754	0.81[ASN][1000 genomes]
rs6693979	0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs6697561	0.88[JPT][hapmap]
rs67054007	0.82[ASN][1000 genomes]
rs72717608	0.81[ASN][1000 genomes]
rs72717616	0.81[ASN][1000 genomes]
rs72717630	0.81[ASN][1000 genomes]
rs72717650	0.81[ASN][1000 genomes]
rs72717670	0.82[ASN][1000 genomes]
rs74128535	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7516410	0.88[JPT][hapmap]
rs7521109	0.81[ASN][1000 genomes]
rs7543147	0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs7547658	0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs7554767	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs913686	0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs913688	0.81[ASN][1000 genomes]
rs9425787	0.81[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	nsv947512	chr1:174984818-175000909	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7531032	MRPS14	Cis_1M	lymphoblastoid	RTeQTL
rs7531032	RABGAP1L	cis	Esophagus Muscularis	GTEx
rs7531032	RP11-160H22.5	cis	Thyroid	GTEx

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174993200-174998600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:174993200-174998600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr1:174993200-174998600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr1:174993200-174998600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr1:174993200-174998800	Weak transcription	Adipose Nuclei	Adipose
6	chr1:174993200-174998800	Weak transcription	Brain Substantia Nigra	brain
7	chr1:174993200-175004800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:174993200-175013800	Weak transcription	Spleen	Spleen
9	chr1:174993400-174998600	Weak transcription	Primary B cells from peripheral blood	blood
10	chr1:174993400-174998600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr1:174993400-174998600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:174993400-174998600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr1:174993400-174998600	Weak transcription	Fetal Thymus	thymus
14	chr1:174993400-174998600	Weak transcription	K562	blood
15	chr1:174993400-174998800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr1:174993600-174998600	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr1:174993600-174998600	Weak transcription	Dnd41	blood
18	chr1:174997000-174998600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr1:174997800-174998800	Weak transcription	Right Atrium	heart
20	chr1:174998000-174998800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr1:174998200-174998800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:174998200-174999000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr1:174998200-174999000	Enhancers	Fetal Intestine Large	intestine
24	chr1:174998200-174999000	Enhancers	Fetal Intestine Small	intestine
25	chr1:174998200-174999000	Enhancers	Stomach Mucosa	stomach
26	chr1:174998200-174999000	Enhancers	HepG2	liver
27	chr1:174998200-174999000	Enhancers	HMEC	breast
28	chr1:174998200-174999400	Enhancers	Pancreas	Pancrea
29	chr1:174998200-175001800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr1:174998400-174999000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:174998400-174999000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:174998400-174999000	Enhancers	NHEK	skin
33	chr1:174998400-174999200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:174998400-174999400	Enhancers	Primary monocytes fromperipheralblood	blood

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