Variant report

Variant	rs6502499
Chromosome Location	chr17:16216205-16216206
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr17:16215974-16216213	GM12878	blood:	n/a	n/a
2	PAX5	chr17:16215912-16216271	GM12878	blood:	n/a	n/a
3	PAX5	chr17:16215880-16216258	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
PIGL	TF binding region

Extended variants
information (count: 60 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11650283	0.82[CEU][hapmap];0.83[CHB][hapmap]
rs11650956	0.83[EUR][1000 genomes]
rs11651578	0.86[CEU][hapmap];0.84[CHB][hapmap];0.83[JPT][hapmap];0.81[EUR][1000 genomes]
rs11653500	0.80[EUR][1000 genomes]
rs11654658	0.89[CEU][hapmap];0.83[CHB][hapmap];0.81[JPT][hapmap];0.83[EUR][1000 genomes]
rs11655325	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11655906	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11655907	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11656811	0.89[CEU][hapmap];0.83[CHB][hapmap];0.81[JPT][hapmap];0.84[EUR][1000 genomes]
rs11868284	0.81[CEU][hapmap];0.83[CHB][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs12449629	0.80[EUR][1000 genomes]
rs12938394	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12938878	0.84[EUR][1000 genomes]
rs12939078	0.84[EUR][1000 genomes]
rs12945959	0.80[EUR][1000 genomes]
rs12946619	0.80[EUR][1000 genomes]
rs12948244	0.96[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1476810	0.91[CHB][hapmap]
rs15739	0.82[CEU][hapmap];0.83[CHB][hapmap]
rs2014604	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2074995	0.86[CEU][hapmap]
rs2109262	0.85[CEU][hapmap];0.83[CHB][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs2324307	0.81[EUR][1000 genomes]
rs28516015	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3095171	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3112511	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3112513	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35565381	0.88[EUR][1000 genomes]
rs3785621	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3785622	0.84[EUR][1000 genomes]
rs3785623	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3785625	0.86[CEU][hapmap];0.84[CHB][hapmap];0.83[JPT][hapmap]
rs3785626	0.85[CEU][hapmap];0.83[CHB][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs4791665	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4792728	0.85[CEU][hapmap];0.83[CHB][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs4792729	0.80[EUR][1000 genomes]
rs4792730	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4792731	0.89[CEU][hapmap];0.83[CHB][hapmap];0.81[JPT][hapmap];0.82[EUR][1000 genomes]
rs4792735	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56269147	0.88[EUR][1000 genomes]
rs62072527	0.80[EUR][1000 genomes]
rs7210990	0.82[CEU][hapmap];0.84[CHB][hapmap];0.83[JPT][hapmap]
rs7219687	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7223428	0.80[EUR][1000 genomes]
rs7224367	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7225920	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8074727	0.81[EUR][1000 genomes]
rs9303135	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9747114	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9890539	0.92[CEU][hapmap];0.92[CHB][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9893005	0.82[EUR][1000 genomes]
rs9910148	0.80[CEU][hapmap];0.83[JPT][hapmap]
rs9914734	0.90[CEU][hapmap];0.84[CHB][hapmap];0.83[JPT][hapmap];0.81[EUR][1000 genomes]
rs9944524	0.89[CEU][hapmap];0.83[CHB][hapmap];0.81[JPT][hapmap];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
3	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
5	nsv907717	chr17:16076898-16239832	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
6	nsv1063764	chr17:16171649-16662914	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs6502499	ZSWIM7	cis	Muscle Skeletal	GTEx
rs6502499	LOC125150	cis	uninvolved skin	skin_eQTL
rs6502499	ADORA2B	cis	Muscle Skeletal	GTEx
rs6502499	TTC19	Cis_1M	lymphoblastoid	RTeQTL
rs6502499	ADORA2B	cis	Esophagus Muscularis	GTEx
rs6502499	ADORA2B	cis	Artery Tibial	GTEx
rs6502499	NCOR1	Cis_1M	lymphoblastoid	RTeQTL
rs6502499	LOC125150	cis	lesional skin	skin_eQTL
rs6502499	CENPV	cis	Artery Tibial	GTEx
rs6502499	LOC125150	cis	normal skin	skin_eQTL
rs6502499	ADORA2B	cis	Thyroid	GTEx
rs6502499	ZSWIM7	Cis_1M	lymphoblastoid	RTeQTL
rs6502499	ADORA2B	cis	Nerve Tibial	GTEx

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16189400-16216600	Weak transcription	Fetal Brain Female	brain
2	chr17:16190600-16229600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr17:16190800-16216400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr17:16190800-16220800	Weak transcription	Aorta	Aorta
5	chr17:16191400-16218400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr17:16191400-16219400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr17:16191400-16226000	Weak transcription	HSMMtube	muscle
8	chr17:16191600-16216800	Weak transcription	Fetal Kidney	kidney
9	chr17:16191800-16217200	Weak transcription	HSMM	muscle
10	chr17:16192800-16229000	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr17:16194000-16216400	Weak transcription	GM12878-XiMat	blood
12	chr17:16197800-16230000	Weak transcription	Brain Angular Gyrus	brain
13	chr17:16198400-16220400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr17:16200800-16216600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr17:16200800-16216600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr17:16200800-16228200	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr17:16201000-16232400	Weak transcription	Hela-S3	cervix
18	chr17:16201200-16223200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr17:16201600-16228800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr17:16201600-16246400	Weak transcription	Fetal Brain Male	brain
21	chr17:16201800-16221000	Weak transcription	Colonic Mucosa	Colon
22	chr17:16202200-16216400	Weak transcription	K562	blood
23	chr17:16202200-16216600	Weak transcription	Pancreas	Pancrea
24	chr17:16203600-16228800	Weak transcription	Primary B cells from cord blood	blood
25	chr17:16203800-16216400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr17:16203800-16216600	Weak transcription	Small Intestine	intestine
27	chr17:16204000-16219400	Weak transcription	Brain Germinal Matrix	brain
28	chr17:16204200-16220000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr17:16204200-16228800	Weak transcription	Brain Substantia Nigra	brain
30	chr17:16204600-16226000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr17:16205400-16228800	Weak transcription	Colon Smooth Muscle	Colon
32	chr17:16205800-16216400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr17:16205800-16216400	Weak transcription	NH-A	brain
34	chr17:16205800-16216600	Weak transcription	Spleen	Spleen
35	chr17:16205800-16218400	Weak transcription	Right Ventricle	heart
36	chr17:16205800-16220600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr17:16205800-16226000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr17:16205800-16228800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr17:16205800-16228800	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr17:16205800-16229000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr17:16205800-16229000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr17:16205800-16245600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr17:16206000-16216600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr17:16206000-16216600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr17:16206000-16216600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr17:16206000-16216800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr17:16206000-16219800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr17:16206000-16219800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr17:16206000-16220400	Weak transcription	NHEK	skin
50	chr17:16206000-16232200	Weak transcription	HMEC	breast

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