Variant report

Variant	rs225304
Chromosome Location	chr17:33921857-33921858
allele	A/C
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:
2	chr17:33920166..33922010-chr17:33979222..33981108,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1001441	0.84[JPT][hapmap]
rs10068	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1037590	0.80[CHB][hapmap];0.81[CHD][hapmap];0.95[JPT][hapmap]
rs1037592	0.81[ASN][1000 genomes]
rs10512472	0.80[CHD][hapmap];0.89[JPT][hapmap]
rs11080357	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11653310	1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.90[MKK][hapmap];0.98[TSI][hapmap];0.86[YRI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11653357	0.84[ASN][1000 genomes]
rs11655803	0.83[ASN][1000 genomes]
rs11656138	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12452797	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs12604067	0.85[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs12947592	0.81[ASN][1000 genomes]
rs12948669	0.84[ASN][1000 genomes]
rs1671656	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16971217	0.90[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs16971227	0.83[ASN][1000 genomes]
rs17637907	0.94[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.96[MEX][hapmap];0.92[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs225243	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs225247	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs225251	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs225254	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs225259	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs225262	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs225277	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs225285	0.89[CEU][hapmap]
rs225295	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs225306	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.81[MKK][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2840044	0.94[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.96[MEX][hapmap];0.92[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28667378	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35237539	0.84[ASN][1000 genomes]
rs7212704	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8069037	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8073935	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9890191	0.81[ASN][1000 genomes]
rs9891574	0.81[ASN][1000 genomes]
rs9891800	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9897552	0.80[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs9899860	0.82[ASN][1000 genomes]
rs9899927	0.82[ASN][1000 genomes]
rs9900378	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9902765	0.82[ASN][1000 genomes]
rs9908158	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9913003	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9913875	0.82[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
rs225304	CCL14-CCL15	cis	cerebellum	SCAN

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	chr17:33915200-33923400	Weak transcription	Colonic Mucosa	Colon
4	chr17:33915200-33923600	Weak transcription	Esophagus	oesophagus
5	chr17:33915200-33923600	Weak transcription	Pancreas	Pancrea
6	chr17:33915200-33930600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr17:33915200-33932600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr17:33915400-33923600	Weak transcription	Aorta	Aorta
9	chr17:33915600-33922200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr17:33915600-33923600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr17:33915600-33954600	Weak transcription	Small Intestine	intestine
12	chr17:33915800-33922000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr17:33915800-33922000	Weak transcription	Fetal Muscle Leg	muscle
14	chr17:33915800-33923600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr17:33915800-33923600	Weak transcription	Right Ventricle	heart
16	chr17:33916000-33923800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr17:33916000-33942000	Weak transcription	Right Atrium	heart
18	chr17:33916400-33924200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr17:33916400-33944800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr17:33916600-33922000	Weak transcription	Brain Hippocampus Middle	brain
21	chr17:33916600-33923800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr17:33916800-33922000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr17:33916800-33922000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr17:33916800-33922000	Weak transcription	Brain Germinal Matrix	brain
25	chr17:33916800-33922200	Weak transcription	Fetal Intestine Small	intestine
26	chr17:33916800-33923000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr17:33916800-33923800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr17:33916800-33924600	Weak transcription	Brain Substantia Nigra	brain
29	chr17:33916800-33925200	Weak transcription	Fetal Brain Male	brain
30	chr17:33916800-33925200	Weak transcription	Fetal Kidney	kidney
31	chr17:33916800-33945400	Weak transcription	Stomach Mucosa	stomach
32	chr17:33916800-34001200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr17:33917000-33922000	Weak transcription	Fetal Stomach	stomach
34	chr17:33917000-33922000	Weak transcription	Ovary	ovary
35	chr17:33917400-33922000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr17:33917600-33923800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr17:33917600-33934600	Weak transcription	Brain Angular Gyrus	brain
38	chr17:33917800-33923000	Weak transcription	Fetal Brain Female	brain
39	chr17:33918000-33923200	Weak transcription	NHLF	lung
40	chr17:33918600-33922000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr17:33918600-33922000	Weak transcription	Lung	lung
42	chr17:33919400-33940000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr17:33919600-33931000	Strong transcription	K562	blood
44	chr17:33919800-33922200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr17:33920000-33937400	Strong transcription	A549	lung
46	chr17:33920400-33936400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr17:33920600-33922400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr17:33920600-33922400	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr17:33920600-33926600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr17:33920600-33939800	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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