Variant report

Variant	rs9649
Chromosome Location	chr17:34050934-34050935
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:34048945..34052195-chr17:34055634..34059515,4	K562	blood:
2	chr17:34048477..34051803-chr17:34054688..34058128,3	K562	blood:

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	AP2B1	hsa-miR-16-5p	chr17:34050931-34050952

Variant related genes	Relation type
ENSG00000141150	Chromatin interaction
AP2B1	miRNA target site

Extended variants
information (count: 108 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10438814	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1080352	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11080356	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11650473	1.00[CHB][hapmap]
rs11652234	0.82[ASN][1000 genomes]
rs11871358	0.88[EUR][1000 genomes]
rs1634683	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17550268	0.81[CEU][hapmap]
rs17550632	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17550716	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17638867	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs178736	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs188959	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2011528	0.92[EUR][1000 genomes]
rs2011897	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225244	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs225248	0.84[EUR][1000 genomes]
rs225249	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225250	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225252	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225256	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225257	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225258	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225260	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs225261	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225264	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225265	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225266	0.85[EUR][1000 genomes]
rs225267	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225268	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225270	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225271	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225274	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225275	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225276	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225278	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225279	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225283	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225285	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs225286	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225287	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225288	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225292	0.81[EUR][1000 genomes]
rs225294	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225296	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225298	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225300	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs225303	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225305	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225306	0.90[CEU][hapmap]
rs225307	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225308	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs226084	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs226087	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs226089	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs226090	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2376177	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2428464	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2523114	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2523116	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2523117	0.84[EUR][1000 genomes]
rs2626625	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2626626	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35542792	0.82[ASN][1000 genomes]
rs3859282	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3859284	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3890900	0.86[EUR][1000 genomes]
rs4795086	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4796098	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4796100	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4796101	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4796104	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6505484	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6505485	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6505486	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6505487	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7208672	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7210966	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7211724	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7213804	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7214250	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7214742	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7217378	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7217533	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7221203	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72829922	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72829923	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72829925	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72829927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72829932	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72829933	0.96[EUR][1000 genomes]
rs72829936	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72829940	0.90[EUR][1000 genomes]
rs8064895	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8070030	1.00[CHB][hapmap]
rs8071584	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8072676	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8074800	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8077826	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9303690	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9674851	1.00[JPT][hapmap]
rs9895464	1.00[JPT][hapmap]
rs9898128	1.00[JPT][hapmap]
rs9912939	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9914929	1.00[JPT][hapmap]

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	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
2	nsv908080	chr17:34027964-34054044	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9649	LOC645744	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33968000-34055800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:34023200-34051600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr17:34024200-34056200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr17:34032600-34055800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr17:34034800-34053400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr17:34034800-34055600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr17:34035400-34056200	Strong transcription	A549	lung
8	chr17:34035800-34053000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr17:34036000-34055600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr17:34036400-34052200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr17:34036600-34055800	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr17:34036800-34054800	Strong transcription	Primary B cells from peripheral blood	blood
13	chr17:34037000-34053000	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr17:34040000-34052800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr17:34040200-34055000	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr17:34040400-34054400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr17:34040600-34054800	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr17:34040600-34055200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr17:34040600-34055600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr17:34040800-34053400	Strong transcription	Duodenum Mucosa	Duodenum
21	chr17:34040800-34054400	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr17:34040800-34054400	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr17:34040800-34055000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr17:34040800-34055000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr17:34041400-34053000	Weak transcription	Right Atrium	heart
26	chr17:34042400-34053000	Strong transcription	K562	blood
27	chr17:34042600-34052000	Strong transcription	Fetal Muscle Leg	muscle
28	chr17:34042800-34052000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr17:34042800-34055400	Strong transcription	Primary T cells from cord blood	blood
30	chr17:34043000-34052600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr17:34043600-34052800	Strong transcription	HSMM	muscle
32	chr17:34043600-34053800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr17:34043800-34054600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr17:34044800-34055800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr17:34045000-34058000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr17:34046000-34051400	Weak transcription	Fetal Heart	heart
37	chr17:34046000-34054800	Strong transcription	Dnd41	blood
38	chr17:34046400-34052400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr17:34046400-34052400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr17:34046600-34051600	Strong transcription	Placenta	Placenta
41	chr17:34046600-34056200	Strong transcription	HMEC	breast
42	chr17:34046800-34051400	Strong transcription	Fetal Intestine Large	intestine
43	chr17:34046800-34052600	Strong transcription	Left Ventricle	heart
44	chr17:34047000-34051600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr17:34047000-34053000	Strong transcription	Brain Cingulate Gyrus	brain
46	chr17:34047200-34052800	Strong transcription	Hela-S3	cervix
47	chr17:34048000-34053200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr17:34048200-34055400	Strong transcription	Primary B cells from cord blood	blood
49	chr17:34048400-34052000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr17:34048400-34052400	Strong transcription	Fetal Stomach	stomach

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