Variant report

Variant	rs8015921
Chromosome Location	chr14:65523015-65523016
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65517563..65520454-chr14:65521693..65524951,3	MCF-7	breast:
2	chr14:65521820..65524222-chr14:65777692..65780130,2	K562	blood:

Variant related genes	Relation type
ENSG00000257365	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10143198	0.80[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10151162	0.85[CHB][hapmap];0.88[YRI][hapmap]
rs1124751	0.93[ASW][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.89[GIH][hapmap];0.81[JPT][hapmap];0.86[LWK][hapmap];0.94[MEX][hapmap];0.92[MKK][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes]
rs1124752	0.93[ASW][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.89[GIH][hapmap];0.81[JPT][hapmap];0.83[LWK][hapmap];0.93[MEX][hapmap];0.92[MKK][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes]
rs1256417	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1270074	0.84[CHB][hapmap];0.89[JPT][hapmap];0.87[YRI][hapmap];0.83[ASN][1000 genomes]
rs1271582	0.93[ASW][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.86[GIH][hapmap];0.90[JPT][hapmap];0.85[LWK][hapmap];0.94[MEX][hapmap];0.82[MKK][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs1953232	0.86[ASW][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];0.94[MEX][hapmap];0.92[MKK][hapmap];0.94[YRI][hapmap]
rs1957948	0.93[ASW][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.86[LWK][hapmap];0.93[MEX][hapmap];0.92[MKK][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1957949	0.80[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1998688	0.93[ASW][hapmap];0.86[CHB][hapmap];0.92[CHD][hapmap];0.86[GIH][hapmap];0.84[JPT][hapmap];0.82[LWK][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2151755	0.80[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.83[EUR][1000 genomes]
rs2296316	0.85[CEU][hapmap]
rs2781373	0.93[ASW][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.89[GIH][hapmap];0.81[JPT][hapmap];0.83[LWK][hapmap];0.94[MEX][hapmap];0.92[MKK][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes]
rs2781374	0.81[AFR][1000 genomes]
rs2781375	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34459643	0.81[EUR][1000 genomes]
rs35410051	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35520739	0.83[EUR][1000 genomes]
rs4902357	0.90[CHB][hapmap];0.90[JPT][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4902359	0.93[ASW][hapmap];0.90[CHB][hapmap];0.83[CHD][hapmap];0.86[GIH][hapmap];0.90[JPT][hapmap];0.80[LWK][hapmap];0.94[MEX][hapmap];0.80[TSI][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4902360	0.93[ASW][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.86[GIH][hapmap];0.90[JPT][hapmap];0.83[LWK][hapmap];0.94[MEX][hapmap];0.82[MKK][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4902361	0.86[CHB][hapmap];0.90[JPT][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7145112	0.88[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7150646	0.90[CHB][hapmap];0.90[JPT][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7152277	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7158239	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7159443	0.86[CHB][hapmap];0.90[JPT][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8005829	0.83[EUR][1000 genomes]
rs8008095	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8010213	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8011585	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs942626	0.93[ASW][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.86[LWK][hapmap];0.94[MEX][hapmap];0.92[MKK][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs942628	1.00[ASW][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.93[LWK][hapmap];0.94[MEX][hapmap];0.92[MKK][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs942629	0.93[ASW][hapmap];0.80[CEU][hapmap];0.89[GIH][hapmap];0.96[LWK][hapmap];0.94[MEX][hapmap];0.92[MKK][hapmap];0.83[TSI][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs998247	0.80[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[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	nsv832816	chr14:65473244-65644645	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8015921	MAX	cis	cerebellum	SCAN
rs8015921	ATP6V1D	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65470400-65539600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr14:65471200-65546200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr14:65483400-65528000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr14:65501800-65543200	Weak transcription	Fetal Brain Male	brain
5	chr14:65502400-65523400	Weak transcription	Right Atrium	heart
6	chr14:65508200-65530800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr14:65508400-65527800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:65508400-65527800	Weak transcription	Colonic Mucosa	Colon
9	chr14:65508400-65528000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr14:65508600-65530800	Weak transcription	NHDF-Ad	bronchial
11	chr14:65508600-65542000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr14:65509600-65528000	Weak transcription	Fetal Kidney	kidney
13	chr14:65510200-65527800	Weak transcription	Primary B cells from peripheral blood	blood
14	chr14:65511600-65528600	Weak transcription	NH-A	brain
15	chr14:65511800-65527800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:65514600-65523200	Weak transcription	K562	blood
17	chr14:65514600-65527600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr14:65514600-65527600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr14:65514600-65527600	Weak transcription	GM12878-XiMat	blood
20	chr14:65514800-65527800	Weak transcription	Colon Smooth Muscle	Colon
21	chr14:65514800-65536200	Weak transcription	Small Intestine	intestine
22	chr14:65515200-65528000	Weak transcription	HUVEC	blood vessel
23	chr14:65515200-65528600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr14:65515200-65530000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr14:65515400-65527800	Weak transcription	Hela-S3	cervix
26	chr14:65515400-65527800	Weak transcription	NHEK	skin
27	chr14:65515600-65527800	Weak transcription	HMEC	breast
28	chr14:65517200-65524000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr14:65517400-65523600	Weak transcription	Psoas Muscle	Psoas
30	chr14:65517400-65527800	Weak transcription	Stomach Mucosa	stomach
31	chr14:65519000-65526000	Strong transcription	Primary T cells from cord blood	blood
32	chr14:65519200-65524000	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr14:65519200-65524000	Strong transcription	Fetal Intestine Large	intestine
34	chr14:65519400-65524000	Strong transcription	Brain Hippocampus Middle	brain
35	chr14:65519600-65523200	Strong transcription	Stomach Smooth Muscle	stomach
36	chr14:65519600-65523800	Strong transcription	Fetal Brain Female	brain
37	chr14:65519600-65524000	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr14:65519600-65524000	Strong transcription	Thymus	Thymus
39	chr14:65519600-65524200	Strong transcription	Fetal Muscle Leg	muscle
40	chr14:65519600-65524200	Strong transcription	Fetal Stomach	stomach
41	chr14:65519600-65524400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:65519600-65524800	Strong transcription	HepG2	liver
43	chr14:65519600-65525000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr14:65519600-65526400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr14:65519600-65529000	Strong transcription	Fetal Muscle Trunk	muscle
46	chr14:65519800-65524000	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr14:65520000-65524000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr14:65520000-65524200	Strong transcription	Fetal Intestine Small	intestine
49	chr14:65520000-65524800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr14:65520200-65524000	Strong transcription	Duodenum Mucosa	Duodenum

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