Variant report

Variant	rs218914
Chromosome Location	chr8:90745358-90745359
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90742547..90745404-chr8:90995245..90998010,2	MCF-7	breast:
2	chr8:90742416..90744281-chr8:90745142..90746926,3	MCF-7	breast:
3	chr8:90740620..90742197-chr8:90743722..90745998,2	K562	blood:
4	chr8:90744716..90746435-chr8:90912838..90915687,2	MCF-7	breast:
5	chr8:90744391..90748036-chr8:90768454..90770594,4	MCF-7	breast:
6	chr8:90744912..90747575-chr8:90768585..90770314,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000207359	Chromatin interaction
ENSG00000104312	Chromatin interaction
ENSG00000164823	Chromatin interaction
ENSG00000251136	Chromatin interaction
ENSG00000104320	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1003843	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10095743	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10112852	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12675281	0.80[EUR][1000 genomes]
rs13252013	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13252917	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13259882	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13279023	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs184302	0.85[EUR][1000 genomes]
rs218895	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs218899	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs218900	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs218901	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs218902	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs218905	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs218907	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218908	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218909	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218910	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs218913	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218916	0.80[EUR][1000 genomes]
rs218925	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs218929	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs218932	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs218934	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs218936	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs218944	0.86[EUR][1000 genomes]
rs218946	0.87[EUR][1000 genomes]
rs218947	0.87[EUR][1000 genomes]
rs218948	0.85[EUR][1000 genomes]
rs2644021	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2644033	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2735870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2735871	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2735873	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2735878	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2735882	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs370282	0.84[AMR][1000 genomes]
rs383592	0.83[EUR][1000 genomes]
rs385524	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs39499	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs39500	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs39503	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs39504	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs39505	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs39506	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs39509	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs39761	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs400411	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs40246	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs40247	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs402886	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs40382	0.83[AMR][1000 genomes]
rs40452	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs40453	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs40544	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs40545	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs40547	0.81[AMR][1000 genomes]
rs405734	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs40636	0.85[AMR][1000 genomes]
rs40638	0.84[AMR][1000 genomes]
rs411279	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs416324	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs419754	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs42346	0.85[AMR][1000 genomes]
rs42490	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs431264	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs43134	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs43135	0.82[AMR][1000 genomes]
rs43225	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs447618	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs454441	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs465	0.83[AMR][1000 genomes]
rs4961158	0.80[EUR][1000 genomes]
rs51331	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6470366	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67143546	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6992985	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6993133	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7824932	0.84[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	nsv831389	chr8:90575517-90753120	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv1031578	chr8:90670102-90757821	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv891180	chr8:90697810-90802491	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
5	nsv6294	chr8:90705780-90750101	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
7	nsv891181	chr8:90737258-90819998	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs218914	RP11-37B2.1	cis	Nerve Tibial	GTEx
rs218914	RP11-37B2.1	cis	Adipose Subcutaneous	GTEx
rs218914	RP11-37B2.1	cis	Thyroid	GTEx
rs218914	RP11-37B2.1	cis	Skin Sun Exposed Lower leg	GTEx
rs218914	RP11-37B2.1	cis	Artery Tibial	GTEx

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90713600-90756200	Weak transcription	Pancreas	Pancrea
2	chr8:90717800-90747800	Weak transcription	Ovary	ovary
3	chr8:90738600-90749000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:90738600-90749200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:90739000-90749400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:90739200-90748800	Weak transcription	A549	lung
7	chr8:90739400-90745400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:90741400-90751400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr8:90741600-90749000	Weak transcription	Gastric	stomach
10	chr8:90741600-90768200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr8:90742000-90747000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:90742600-90746400	Weak transcription	Psoas Muscle	Psoas
13	chr8:90742600-90747600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr8:90742600-90749200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:90742600-90749200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr8:90742600-90767600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:90742800-90748200	Weak transcription	K562	blood
18	chr8:90742800-90749000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr8:90742800-90749200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr8:90742800-90762200	Weak transcription	Aorta	Aorta
21	chr8:90743000-90749400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr8:90743200-90749200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:90743400-90745800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:90745000-90754600	Weak transcription	Colon Smooth Muscle	Colon
25	chr8:90745200-90745600	ZNF genes & repeats	Fetal Stomach	stomach
26	chr8:90745200-90746200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links