Variant report

Variant	rs4792735
Chromosome Location	chr17:16236388-16236389
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 17 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs11650283	0.89[CEU][hapmap];0.91[CHB][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap];0.87[EUR][1000 genomes]
rs11651578	0.91[CHB][hapmap]
rs11651955	0.87[EUR][1000 genomes]
rs11653585	0.82[CHB][hapmap]
rs11654658	0.82[CEU][hapmap];0.91[CHB][hapmap];0.83[GIH][hapmap]
rs11655325	0.85[EUR][1000 genomes]
rs11655906	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11655907	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11656811	0.81[CEU][hapmap];0.91[CHB][hapmap];0.83[GIH][hapmap]
rs11868284	0.91[CHB][hapmap];0.83[GIH][hapmap]
rs12449629	0.96[EUR][1000 genomes]
rs12945877	0.87[EUR][1000 genomes]
rs12946717	0.86[EUR][1000 genomes]
rs12947973	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12948244	0.88[CEU][hapmap];0.83[CHB][hapmap];0.82[EUR][1000 genomes]
rs12948680	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12948905	0.82[EUR][1000 genomes]
rs12949255	0.93[EUR][1000 genomes]
rs12949375	0.90[EUR][1000 genomes]
rs12949537	0.93[EUR][1000 genomes]
rs1476810	0.82[CEU][hapmap];0.91[CHB][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs15739	0.89[CEU][hapmap];0.91[CHB][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs178787	0.80[TSI][hapmap]
rs2014604	0.92[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];0.93[GIH][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes]
rs2074995	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs2109262	0.91[CHB][hapmap];0.83[GIH][hapmap]
rs28516015	0.83[EUR][1000 genomes]
rs28862997	0.95[EUR][1000 genomes]
rs3095171	0.82[EUR][1000 genomes]
rs3112511	0.92[CEU][hapmap];0.93[GIH][hapmap];0.83[EUR][1000 genomes]
rs3112513	0.92[CEU][hapmap];0.93[GIH][hapmap];0.83[EUR][1000 genomes]
rs3112521	0.84[GIH][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap]
rs3112524	0.84[GIH][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap]
rs3112526	0.84[GIH][hapmap];0.86[TSI][hapmap]
rs3112527	0.84[GIH][hapmap];0.86[MEX][hapmap];0.86[TSI][hapmap]
rs35762856	0.87[EUR][1000 genomes]
rs3785621	0.92[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];0.91[GIH][hapmap];0.82[MEX][hapmap];0.84[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3785623	0.92[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];0.91[GIH][hapmap];0.83[MEX][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes]
rs3785625	0.91[CHB][hapmap]
rs3785626	0.91[CHB][hapmap];0.83[GIH][hapmap]
rs4470185	0.80[TSI][hapmap]
rs4791665	0.92[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];0.93[GIH][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes]
rs4792728	0.91[CHB][hapmap];0.83[GIH][hapmap]
rs4792730	0.82[EUR][1000 genomes]
rs4792731	0.82[CEU][hapmap];0.91[CHB][hapmap];0.83[GIH][hapmap]
rs56326304	0.81[EUR][1000 genomes]
rs6502499	0.92[CEU][hapmap];0.92[CHB][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7210990	0.91[CHB][hapmap]
rs7219687	0.92[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];0.93[GIH][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs7224367	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7225920	0.83[EUR][1000 genomes]
rs8073259	0.82[GIH][hapmap]
rs917609	0.84[GIH][hapmap];0.86[TSI][hapmap]
rs9303135	0.80[EUR][1000 genomes]
rs9747114	0.83[EUR][1000 genomes]
rs9890539	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9890867	0.81[EUR][1000 genomes]
rs9893005	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9910148	0.82[CHB][hapmap]
rs9914734	0.82[CEU][hapmap];0.91[CHB][hapmap]
rs9944524	0.82[CEU][hapmap];0.91[CHB][hapmap];0.83[GIH][hapmap]

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:17)

SNP	Gene	Cis/trans	Tissue	Source
rs4792735	TRPV2	cis	cerebellum	SCAN
rs4792735	TRPV2	cis	parietal	SCAN
rs4792735	CENPV	cis	Artery Tibial	GTEx
rs4792735	ADORA2B	cis	Artery Tibial	GTEx
rs4792735	TTC19	Cis_1M	lymphoblastoid	RTeQTL
rs4792735	CENPV	cis	lymphoblastoid	seeQTL
rs4792735	ADORA2B	cis	Muscle Skeletal	GTEx
rs4792735	ADORA2B	cis	Nerve Tibial	GTEx
rs4792735	PRPSAP2	cis	parietal	SCAN
rs4792735	CENPV	cis	parietal	SCAN
rs4792735	PRR6	cis	multi-tissue	Pritchard
rs4792735	NCOR1	Cis_1M	lymphoblastoid	RTeQTL
rs4792735	ZSWIM7	cis	Muscle Skeletal	GTEx
rs4792735	ADORA2B	cis	Thyroid	GTEx
rs4792735	ELAC2	cis	parietal	SCAN
rs4792735	ADORA2B	cis	Esophagus Muscularis	GTEx
rs4792735	ZSWIM7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16201600-16246400	Weak transcription	Fetal Brain Male	brain
2	chr17:16205800-16245600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr17:16206000-16245800	Weak transcription	Brain Anterior Caudate	brain
4	chr17:16206000-16246000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr17:16209000-16245600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr17:16214600-16255200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr17:16217000-16246000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr17:16217200-16255200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr17:16219200-16246000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr17:16222800-16245600	Weak transcription	Right Ventricle	heart
11	chr17:16225800-16245800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr17:16226600-16245600	Weak transcription	Fetal Kidney	kidney
13	chr17:16229400-16255600	Weak transcription	Esophagus	oesophagus
14	chr17:16230200-16246000	Weak transcription	Spleen	Spleen
15	chr17:16230400-16245600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr17:16230400-16245600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr17:16230400-16245600	Weak transcription	Brain Germinal Matrix	brain
18	chr17:16230400-16245600	Weak transcription	Placenta	Placenta
19	chr17:16230400-16246000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr17:16230400-16246200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr17:16230400-16253600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr17:16230400-16255000	Weak transcription	Primary B cells from cord blood	blood
23	chr17:16230400-16255200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr17:16230400-16255200	Weak transcription	Brain Substantia Nigra	brain
25	chr17:16230600-16243800	Weak transcription	Thymus	Thymus
26	chr17:16230600-16244000	Weak transcription	Primary T cells from cord blood	blood
27	chr17:16230600-16245400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr17:16230600-16245600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr17:16230600-16245600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr17:16230600-16245600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr17:16230600-16245600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr17:16230600-16245600	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr17:16230600-16245600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr17:16230600-16245600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr17:16230600-16245600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr17:16230600-16245600	Weak transcription	Fetal Thymus	thymus
37	chr17:16230600-16245600	Weak transcription	Left Ventricle	heart
38	chr17:16230600-16245800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr17:16230600-16245800	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr17:16230600-16245800	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr17:16230600-16245800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr17:16230600-16245800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr17:16230600-16246000	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr17:16230600-16246000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr17:16230600-16246000	Weak transcription	Brain Hippocampus Middle	brain
46	chr17:16230600-16246000	Weak transcription	Dnd41	blood
47	chr17:16230600-16246400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr17:16230600-16250800	Weak transcription	Brain Angular Gyrus	brain
49	chr17:16230600-16254200	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr17:16230600-16255200	Weak transcription	Colon Smooth Muscle	Colon

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