Variant report

Variant	rs226089
Chromosome Location	chr17:34016935-34016936
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	chr17:34015450..34018175-chr17:34061964..34063628,2	K562	blood:

Variant related genes	Relation type
ENSG00000141150	Chromatin interaction

Extended variants
information (count: 116 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs10438814	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1080352	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11080351	1.00[CHB][hapmap]
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	0.84[EUR][1000 genomes]
rs1634683	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[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];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs178736	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs188959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2011528	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2011897	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225244	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs225248	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs225249	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225250	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225252	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225256	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225257	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225258	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225260	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs225261	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225264	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225265	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225266	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs225267	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225268	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225270	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225271	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225274	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225275	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225276	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225278	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225279	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225283	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225285	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs225286	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225287	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225288	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225292	0.85[EUR][1000 genomes]
rs225294	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225296	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225298	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225300	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs225303	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225305	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225306	0.90[CEU][hapmap]
rs225307	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225308	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs226084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs226087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs226090	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2376177	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2428464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2523114	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2523116	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2523117	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2626625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2626626	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35542792	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3859282	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3859284	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3890900	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4251726	1.00[AFR][1000 genomes]
rs4795086	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4796098	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4796100	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4796101	0.98[AMR][1000 genomes];1.00[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	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6505485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6505486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6505487	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7208672	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7210966	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7211724	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7213804	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7214250	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7214742	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7217378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7217533	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7221203	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72828038	0.81[EUR][1000 genomes]
rs72828042	1.00[AFR][1000 genomes]
rs72828065	1.00[AFR][1000 genomes]
rs72829922	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72829923	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72829924	1.00[AFR][1000 genomes]
rs72829925	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72829927	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72829932	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72829933	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs72829936	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs72829940	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs8064895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8070030	1.00[CHB][hapmap]
rs8071584	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8072676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8074800	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8077826	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9303690	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9649	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]
rs9674851	1.00[JPT][hapmap]
rs9894813	0.80[CEU][hapmap]
rs9895464	1.00[JPT][hapmap]
rs9898128	1.00[JPT][hapmap]
rs9898972	0.82[EUR][1000 genomes]
rs9912939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv908079	chr17:33849869-34034851	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs226089	LOC645744	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33921000-34024400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:33931000-34040200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:33960000-34024600	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr17:33968000-34055800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr17:33975000-34025800	Strong transcription	Primary B cells from peripheral blood	blood
6	chr17:33992800-34028200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr17:33995800-34024600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr17:33997400-34023200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr17:33997600-34024600	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr17:33999400-34043400	Weak transcription	Fetal Brain Male	brain
11	chr17:33999600-34018200	Weak transcription	Fetal Kidney	kidney
12	chr17:34001800-34018200	Weak transcription	Esophagus	oesophagus
13	chr17:34002000-34017400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr17:34002000-34032200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr17:34002000-34036800	Weak transcription	Colonic Mucosa	Colon
16	chr17:34002200-34017000	Weak transcription	Brain Angular Gyrus	brain
17	chr17:34005400-34024400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr17:34005400-34028400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr17:34005600-34018800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr17:34005600-34024400	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr17:34005800-34026600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr17:34006000-34024400	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr17:34006200-34018800	Strong transcription	Fetal Muscle Leg	muscle
24	chr17:34006200-34018800	Strong transcription	Dnd41	blood
25	chr17:34006400-34018800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr17:34006400-34019000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr17:34006400-34024200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr17:34006600-34018800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr17:34006600-34019000	Strong transcription	Fetal Intestine Large	intestine
30	chr17:34006600-34032800	Weak transcription	Stomach Mucosa	stomach
31	chr17:34006600-34039800	Weak transcription	Small Intestine	intestine
32	chr17:34006800-34018600	Strong transcription	Fetal Muscle Trunk	muscle
33	chr17:34007400-34018800	Strong transcription	Placenta	Placenta
34	chr17:34007400-34018800	Strong transcription	Thymus	Thymus
35	chr17:34007400-34019200	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr17:34008000-34018200	Weak transcription	Pancreas	Pancrea
37	chr17:34008000-34018800	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr17:34010800-34018200	Weak transcription	Stomach Smooth Muscle	stomach
39	chr17:34011000-34021800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr17:34011000-34022400	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr17:34011000-34026600	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr17:34011200-34017400	Weak transcription	Aorta	Aorta
43	chr17:34011200-34019200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr17:34011200-34024400	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr17:34011600-34018200	Weak transcription	Gastric	stomach
46	chr17:34011600-34021000	Weak transcription	Colon Smooth Muscle	Colon
47	chr17:34011800-34022400	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr17:34011800-34036200	Weak transcription	Hela-S3	cervix
49	chr17:34012000-34017600	Weak transcription	HepG2	liver
50	chr17:34012000-34018200	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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