Variant report

Variant	rs225260
Chromosome Location	chr17:33958422-33958423
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	chr17:33952642..33955408-chr17:33957507..33960024,3	K562	blood:
2	chr17:33958136..33960077-chr17:33969151..33971266,2	K562	blood:

Extended variants
information (count: 102 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10438814	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1080352	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11080356	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11652234	0.91[ASN][1000 genomes]
rs1634683	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17550632	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17550716	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17638867	0.82[EUR][1000 genomes]
rs178736	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs188959	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2011528	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2011897	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs225244	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225246	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs225248	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs225249	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225250	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225252	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225256	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225257	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225258	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225261	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225264	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225265	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225266	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs225267	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225268	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225270	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs225271	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs225274	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs225275	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs225276	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs225278	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs225279	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs225283	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225285	0.87[ASN][1000 genomes]
rs225286	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225287	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225288	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225292	0.88[EUR][1000 genomes]
rs225294	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225296	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225298	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225300	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs225303	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225305	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225307	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225308	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs226084	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs226087	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs226089	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs226090	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2376177	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2428464	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2523114	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2523116	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2523117	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2626625	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2626626	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35542792	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3859282	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3859284	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3890900	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4795086	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4796098	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4796100	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4796101	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4796104	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6505484	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6505485	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6505486	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6505487	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7208672	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7210966	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7211724	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7213804	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7214250	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7214742	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7217378	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7217533	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7221203	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72828038	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72829922	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72829923	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72829925	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72829927	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72829932	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72829933	0.81[EUR][1000 genomes]
rs7405825	0.83[ASN][1000 genomes]
rs8064895	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8071584	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8072676	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8074800	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8077826	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9303690	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9649	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9912939	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
3	nsv1060890	chr17:33884124-34011034	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv543318	chr17:33884124-34011034	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv1062793	chr17:33944732-33976685	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs225260	LOC645744	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33916800-34001200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr17:33920600-33969800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr17:33920800-33975800	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr17:33921000-34024400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:33931000-34040200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr17:33933000-33967400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr17:33933000-33997800	Weak transcription	Esophagus	oesophagus
8	chr17:33933600-33967400	Weak transcription	Gastric	stomach
9	chr17:33937400-33965000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr17:33940000-33960000	Weak transcription	Right Ventricle	heart
11	chr17:33948400-33973400	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr17:33948600-33973600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr17:33948800-34010600	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr17:33949000-33986400	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr17:33949200-34001200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr17:33949800-33958800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr17:33950400-33965400	Strong transcription	HSMM	muscle
18	chr17:33950600-33959000	Strong transcription	Placenta	Placenta
19	chr17:33950600-33959000	Strong transcription	Stomach Smooth Muscle	stomach
20	chr17:33950600-33968600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr17:33950600-33973400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr17:33950800-33959000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr17:33950800-33959200	Strong transcription	K562	blood
24	chr17:33950800-33959400	Strong transcription	Dnd41	blood
25	chr17:33950800-33973400	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr17:33950800-33975400	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr17:33950800-33975800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr17:33950800-33978800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr17:33951200-33958800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
30	chr17:33951200-33958800	Strong transcription	Adipose Nuclei	Adipose
31	chr17:33951200-33960600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr17:33951200-33971800	Strong transcription	Primary hematopoietic stem cells	blood
33	chr17:33951400-33958800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr17:33951400-33958800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr17:33951400-33959000	Strong transcription	Primary B cells from cord blood	blood
36	chr17:33951400-33970800	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr17:33951400-33973400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr17:33951400-33973600	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr17:33953600-33959000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
40	chr17:33953800-33959000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr17:33954200-33982000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr17:33954400-33961200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr17:33954600-33958800	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr17:33954600-33962800	Weak transcription	Colon Smooth Muscle	Colon
45	chr17:33954600-33963400	Weak transcription	Brain Hippocampus Middle	brain
46	chr17:33954600-34001800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr17:33954600-34006000	Weak transcription	Stomach Mucosa	stomach
48	chr17:33954800-33963200	Weak transcription	Brain Substantia Nigra	brain
49	chr17:33954800-33963400	Weak transcription	Hela-S3	cervix
50	chr17:33954800-33967400	Weak transcription	Rectal Smooth Muscle	rectum

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