Variant report

Variant	rs225303
Chromosome Location	chr17:33922149-33922150
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	chr17:33921434..33923649-chr17:33954336..33955867,2	K562	blood:

Extended variants
information (count: 111 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10438814	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1080352	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11080351	1.00[CHB][hapmap]
rs11080356	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11650473	1.00[CHB][hapmap]
rs11652234	1.00[ASN][1000 genomes]
rs1634683	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17550268	0.81[CEU][hapmap]
rs17550632	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17550716	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17638867	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs178736	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs188959	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2011528	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2011897	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225244	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225248	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs225249	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225250	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225252	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225256	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225257	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225258	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225260	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225261	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225264	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225265	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225266	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs225267	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225268	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225270	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225271	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225274	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225275	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225276	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225278	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225279	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225283	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225285	0.88[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs225286	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225287	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225288	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225292	0.87[EUR][1000 genomes]
rs225294	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225296	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225298	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225300	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225305	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225306	0.90[CEU][hapmap]
rs225307	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs226084	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs226087	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs226089	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs226090	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes]
rs2376177	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2428464	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2523114	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2523116	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2523117	0.83[EUR][1000 genomes]
rs2626625	0.93[EUR][1000 genomes]
rs2626626	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35542792	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3859282	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3859284	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3890900	0.88[EUR][1000 genomes]
rs4795086	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.90[EUR][1000 genomes]
rs4796098	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4796100	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4796101	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4796104	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6505484	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6505485	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6505486	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6505487	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7208672	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7210966	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7211724	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7213804	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7214250	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7214742	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7217378	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7217533	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7221203	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72828038	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72829922	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72829923	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72829925	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72829927	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72829932	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72829933	0.83[EUR][1000 genomes]
rs7405825	0.91[ASN][1000 genomes]
rs8064895	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8070030	1.00[CHB][hapmap]
rs8071584	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8072676	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8074800	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8077826	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9303690	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9674851	1.00[JPT][hapmap]
rs9894813	0.80[CEU][hapmap];1.00[CHD][hapmap]
rs9895464	1.00[JPT][hapmap]
rs9898128	1.00[JPT][hapmap]
rs9912939	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9914929	1.00[JPT][hapmap]

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
rs225303	SUZ12P	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33915000-33923600	Weak transcription	Gastric	stomach
2	chr17:33915200-33923400	Weak transcription	Colonic Mucosa	Colon
3	chr17:33915200-33923600	Weak transcription	Esophagus	oesophagus
4	chr17:33915200-33923600	Weak transcription	Pancreas	Pancrea
5	chr17:33915200-33930600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr17:33915200-33932600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr17:33915400-33923600	Weak transcription	Aorta	Aorta
8	chr17:33915600-33922200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr17:33915600-33923600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr17:33915600-33954600	Weak transcription	Small Intestine	intestine
11	chr17:33915800-33923600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr17:33915800-33923600	Weak transcription	Right Ventricle	heart
13	chr17:33916000-33923800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr17:33916000-33942000	Weak transcription	Right Atrium	heart
15	chr17:33916400-33924200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr17:33916400-33944800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr17:33916600-33923800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr17:33916800-33922200	Weak transcription	Fetal Intestine Small	intestine
19	chr17:33916800-33923000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr17:33916800-33923800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr17:33916800-33924600	Weak transcription	Brain Substantia Nigra	brain
22	chr17:33916800-33925200	Weak transcription	Fetal Brain Male	brain
23	chr17:33916800-33925200	Weak transcription	Fetal Kidney	kidney
24	chr17:33916800-33945400	Weak transcription	Stomach Mucosa	stomach
25	chr17:33916800-34001200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr17:33917600-33923800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr17:33917600-33934600	Weak transcription	Brain Angular Gyrus	brain
28	chr17:33917800-33923000	Weak transcription	Fetal Brain Female	brain
29	chr17:33918000-33923200	Weak transcription	NHLF	lung
30	chr17:33919400-33940000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr17:33919600-33931000	Strong transcription	K562	blood
32	chr17:33919800-33922200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr17:33920000-33937400	Strong transcription	A549	lung
34	chr17:33920400-33936400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr17:33920600-33922400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr17:33920600-33922400	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr17:33920600-33926600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr17:33920600-33939800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr17:33920600-33939800	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr17:33920600-33939800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr17:33920600-33940000	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr17:33920600-33940200	Strong transcription	Primary B cells from peripheral blood	blood
43	chr17:33920600-33942200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr17:33920600-33942800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr17:33920600-33944000	Strong transcription	Dnd41	blood
46	chr17:33920600-33969800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr17:33920800-33922600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr17:33920800-33926200	Strong transcription	Primary B cells from cord blood	blood
49	chr17:33920800-33931000	Strong transcription	GM12878-XiMat	blood
50	chr17:33920800-33931000	Strong transcription	Osteobl	bone

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