Variant report

Variant	rs225305
Chromosome Location	chr17:33921160-33921161
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	chr17:33920166..33922010-chr17:33979222..33981108,2	K562	blood:

Extended variants
information (count: 104 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10438814	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1080352	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11080356	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11652234	1.00[ASN][1000 genomes]
rs1634683	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17550632	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17550716	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17638867	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs178736	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs188959	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2011528	0.94[EUR][1000 genomes]
rs2011897	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225244	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225246	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225248	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs225249	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225250	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225252	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225256	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225257	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225258	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225260	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225261	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225264	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225265	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225266	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs225267	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225268	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225270	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225271	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225274	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225275	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225276	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225278	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225279	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225283	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225285	0.95[ASN][1000 genomes]
rs225286	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225287	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225288	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225289	0.81[EUR][1000 genomes]
rs225292	0.89[EUR][1000 genomes]
rs225294	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225296	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225298	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225300	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225303	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225307	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225308	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs226084	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs226087	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs226089	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs226090	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2376177	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2428464	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2523114	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2523116	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2523117	0.86[EUR][1000 genomes]
rs2626625	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2626626	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35542792	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3859282	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3859284	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3890900	0.87[EUR][1000 genomes]
rs4795086	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4796098	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4796100	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4796101	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4796104	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6505484	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6505485	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6505486	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6505487	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7208672	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7210966	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7211724	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7213804	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7214250	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7214742	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7217378	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7217533	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7221203	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72828038	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72829922	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72829923	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72829925	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72829927	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72829932	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72829933	0.86[EUR][1000 genomes]
rs72829936	0.80[EUR][1000 genomes]
rs72829940	0.81[EUR][1000 genomes]
rs7405825	0.91[ASN][1000 genomes]
rs8064895	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8071584	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8072676	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8074800	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8077826	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9303690	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9649	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9912939	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs225305	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	chr17:33915000-33922000	Weak transcription	Spleen	Spleen
2	chr17:33915000-33923600	Weak transcription	Gastric	stomach
3	chr17:33915200-33921800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr17:33915200-33923400	Weak transcription	Colonic Mucosa	Colon
5	chr17:33915200-33923600	Weak transcription	Esophagus	oesophagus
6	chr17:33915200-33923600	Weak transcription	Pancreas	Pancrea
7	chr17:33915200-33930600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr17:33915200-33932600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr17:33915400-33923600	Weak transcription	Aorta	Aorta
10	chr17:33915600-33921200	Weak transcription	Fetal Thymus	thymus
11	chr17:33915600-33921800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr17:33915600-33922200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr17:33915600-33923600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr17:33915600-33954600	Weak transcription	Small Intestine	intestine
15	chr17:33915800-33921200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr17:33915800-33921800	Weak transcription	Thymus	Thymus
17	chr17:33915800-33922000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr17:33915800-33922000	Weak transcription	Fetal Muscle Leg	muscle
19	chr17:33915800-33923600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr17:33915800-33923600	Weak transcription	Right Ventricle	heart
21	chr17:33916000-33921800	Weak transcription	Psoas Muscle	Psoas
22	chr17:33916000-33923800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr17:33916000-33942000	Weak transcription	Right Atrium	heart
24	chr17:33916400-33924200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr17:33916400-33944800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr17:33916600-33921200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr17:33916600-33921200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr17:33916600-33921600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr17:33916600-33921600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr17:33916600-33922000	Weak transcription	Brain Hippocampus Middle	brain
31	chr17:33916600-33923800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr17:33916800-33921200	Weak transcription	Primary T cells from cord blood	blood
33	chr17:33916800-33921200	Weak transcription	Adipose Nuclei	Adipose
34	chr17:33916800-33921200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr17:33916800-33921200	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr17:33916800-33921200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr17:33916800-33921200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr17:33916800-33921200	Weak transcription	HUVEC	blood vessel
39	chr17:33916800-33921200	Weak transcription	NHDF-Ad	bronchial
40	chr17:33916800-33921600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr17:33916800-33921600	Weak transcription	Colon Smooth Muscle	Colon
42	chr17:33916800-33921600	Weak transcription	Fetal Intestine Large	intestine
43	chr17:33916800-33921600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr17:33916800-33921800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr17:33916800-33921800	Weak transcription	Liver	Liver
46	chr17:33916800-33921800	Weak transcription	Brain Anterior Caudate	brain
47	chr17:33916800-33921800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr17:33916800-33922000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr17:33916800-33922000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr17:33916800-33922000	Weak transcription	Brain Germinal Matrix	brain

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