Variant report

Variant	rs10014165
Chromosome Location	chr4:30869970-30869971
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10006361	0.80[YRI][hapmap]
rs10010406	1.00[AMR][1000 genomes]
rs10012637	1.00[ASW][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10013155	1.00[AMR][1000 genomes]
rs10015789	0.95[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10019451	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10025381	0.87[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10026764	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10026911	0.83[AMR][1000 genomes]
rs10028626	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10028966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10034034	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10939319	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1348921	0.80[YRI][hapmap]
rs1447360	0.85[YRI][hapmap]
rs1447364	0.80[YRI][hapmap]
rs1447365	0.80[ASW][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes]
rs16884130	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs28363824	0.85[AMR][1000 genomes]
rs28408956	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28441501	0.83[AMR][1000 genomes]
rs28459765	0.80[AFR][1000 genomes]
rs28534792	0.83[AMR][1000 genomes]
rs28593247	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28650136	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs28655825	0.83[AMR][1000 genomes]
rs28676746	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57816723	1.00[AMR][1000 genomes]
rs6812478	1.00[AMR][1000 genomes]
rs6815248	1.00[ASW][hapmap];1.00[MEX][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs6823602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6827169	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6844992	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9291550	0.90[YRI][hapmap];0.85[AMR][1000 genomes]
rs9884647	1.00[AMR][1000 genomes]
rs9884648	1.00[AMR][1000 genomes]
rs9997990	0.91[AFR][1000 genomes];1.00[AMR][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	nsv878810	chr4:30823157-30987395	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv998450	chr4:30823631-31628179	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:30849200-30872200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:30855200-30879600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:30862800-30870600	Enhancers	Colon Smooth Muscle	Colon
4	chr4:30864200-30870000	Enhancers	Rectal Smooth Muscle	rectum
5	chr4:30864800-30870800	Enhancers	Fetal Heart	heart
6	chr4:30865200-30870400	Weak transcription	Fetal Brain Male	brain
7	chr4:30865200-30872200	Weak transcription	Left Ventricle	heart
8	chr4:30867200-30870800	Enhancers	Fetal Lung	lung
9	chr4:30867400-30870800	Enhancers	Fetal Stomach	stomach
10	chr4:30868000-30870000	Enhancers	HMEC	breast
11	chr4:30868200-30870000	Enhancers	NHEK	skin
12	chr4:30868400-30870400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:30868600-30870000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr4:30868800-30870000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:30868800-30879200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:30868800-30886800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:30869000-30870200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:30869400-30870600	Weak transcription	Aorta	Aorta
19	chr4:30869400-30872400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:30869600-30870200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr4:30869800-30870000	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr4:30869800-30870000	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr4:30869800-30870200	Enhancers	HUES48 Cell Line	embryonic stem cell

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