Variant report

Variant	rs225285
Chromosome Location	chr17:33931084-33931085
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:33931080-33931634	K562	blood:	n/a	n/a
2	POLR2A	chr17:33929100-33932282	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:33929073..33932041-chr17:33938211..33940599,2	K562	blood:

Variant related genes	Relation type
AP2B1	TF binding region

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10068	0.95[CEU][hapmap]
rs10438814	0.87[ASN][1000 genomes]
rs1080352	0.87[ASN][1000 genomes]
rs11080356	0.88[CEU][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.87[ASN][1000 genomes]
rs11652234	0.95[ASN][1000 genomes]
rs11653310	0.89[CEU][hapmap]
rs1634683	0.95[ASN][1000 genomes]
rs17550632	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17550716	0.88[CEU][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17637907	0.89[CEU][hapmap]
rs17638867	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs178736	0.95[ASN][1000 genomes]
rs2011897	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs225244	0.88[CEU][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs225246	0.84[CEU][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs225247	0.88[CEU][hapmap]
rs225249	0.95[ASN][1000 genomes]
rs225250	0.95[ASN][1000 genomes]
rs225251	0.90[CEU][hapmap]
rs225252	0.95[ASN][1000 genomes]
rs225254	0.89[CEU][hapmap]
rs225256	0.95[ASN][1000 genomes]
rs225257	0.95[ASN][1000 genomes]
rs225258	0.95[ASN][1000 genomes]
rs225260	0.87[ASN][1000 genomes]
rs225261	0.95[ASN][1000 genomes]
rs225262	0.90[CEU][hapmap]
rs225264	0.95[ASN][1000 genomes]
rs225265	0.95[ASN][1000 genomes]
rs225266	0.91[ASN][1000 genomes]
rs225267	0.95[ASN][1000 genomes]
rs225268	0.84[CEU][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs225270	0.87[ASN][1000 genomes]
rs225271	0.87[ASN][1000 genomes]
rs225274	0.87[ASN][1000 genomes]
rs225275	0.87[ASN][1000 genomes]
rs225276	0.84[CEU][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs225277	0.90[CEU][hapmap]
rs225278	0.84[CEU][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs225279	0.84[CEU][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs225283	0.95[ASN][1000 genomes]
rs225286	0.95[ASN][1000 genomes]
rs225287	0.95[ASN][1000 genomes]
rs225288	0.95[ASN][1000 genomes]
rs225294	0.95[ASN][1000 genomes]
rs225296	0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs225298	0.95[ASN][1000 genomes]
rs225300	0.87[ASN][1000 genomes]
rs225301	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs225303	0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs225305	0.95[ASN][1000 genomes]
rs225307	0.95[ASN][1000 genomes]
rs225308	0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs226089	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs226090	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs2376177	0.81[CEU][hapmap];0.83[YRI][hapmap];0.95[ASN][1000 genomes]
rs2840044	0.89[CEU][hapmap]
rs35542792	0.95[ASN][1000 genomes]
rs3859282	0.87[ASN][1000 genomes]
rs3859284	0.87[ASN][1000 genomes]
rs4795086	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs4796098	0.88[CEU][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4796100	0.87[ASN][1000 genomes]
rs4796101	0.87[ASN][1000 genomes]
rs6505484	0.87[ASN][1000 genomes]
rs6505485	0.87[ASN][1000 genomes]
rs6505486	0.87[ASN][1000 genomes]
rs6505487	0.87[ASN][1000 genomes]
rs7208672	0.87[ASN][1000 genomes]
rs7210966	0.87[ASN][1000 genomes]
rs7211724	0.84[CEU][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.87[ASN][1000 genomes]
rs7213804	0.87[ASN][1000 genomes]
rs7214250	0.87[ASN][1000 genomes]
rs7214742	0.87[ASN][1000 genomes]
rs7217378	0.87[ASN][1000 genomes]
rs72828038	0.87[ASN][1000 genomes]
rs7405825	0.87[ASN][1000 genomes]
rs8064895	0.87[ASN][1000 genomes]
rs8071584	0.87[ASN][1000 genomes]
rs8072676	0.87[ASN][1000 genomes]
rs8074800	0.87[ASN][1000 genomes]
rs8077826	0.87[ASN][1000 genomes]
rs9303690	0.87[ASN][1000 genomes]
rs9649	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs9674851	1.00[JPT][hapmap]
rs9894813	0.82[CEU][hapmap]
rs9895464	1.00[JPT][hapmap]
rs9898128	1.00[JPT][hapmap]
rs9900378	0.90[CEU][hapmap]
rs9912939	0.87[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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33915200-33932600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:33915600-33954600	Weak transcription	Small Intestine	intestine
3	chr17:33916000-33942000	Weak transcription	Right Atrium	heart
4	chr17:33916400-33944800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr17:33916800-33945400	Weak transcription	Stomach Mucosa	stomach
6	chr17:33916800-34001200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr17:33917600-33934600	Weak transcription	Brain Angular Gyrus	brain
8	chr17:33919400-33940000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr17:33920000-33937400	Strong transcription	A549	lung
10	chr17:33920400-33936400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr17:33920600-33939800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr17:33920600-33939800	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr17:33920600-33939800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr17:33920600-33940000	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr17:33920600-33940200	Strong transcription	Primary B cells from peripheral blood	blood
16	chr17:33920600-33942200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr17:33920600-33942800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr17:33920600-33944000	Strong transcription	Dnd41	blood
19	chr17:33920600-33969800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr17:33920800-33938400	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr17:33920800-33975800	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr17:33921000-33931400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr17:33921000-33931600	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr17:33921000-33932000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr17:33921000-33937200	Strong transcription	Placenta	Placenta
26	chr17:33921000-33939800	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr17:33921000-33939800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr17:33921000-33940400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr17:33921000-33941400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr17:33921000-33942200	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr17:33921000-33943000	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr17:33921000-33946200	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr17:33921000-33946600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr17:33921000-34024400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr17:33921200-33931400	Strong transcription	Fetal Thymus	thymus
36	chr17:33921200-33931600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr17:33921200-33931600	Strong transcription	Duodenum Mucosa	Duodenum
38	chr17:33921200-33933200	Strong transcription	NHEK	skin
39	chr17:33921200-33939600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr17:33921200-33939800	Strong transcription	Primary T cells from cord blood	blood
41	chr17:33921200-33939800	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr17:33921200-33940000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr17:33921200-33940000	Strong transcription	Adipose Nuclei	Adipose
44	chr17:33921600-33939400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr17:33921800-33938600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr17:33921800-33939800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr17:33921800-33939800	Strong transcription	Fetal Muscle Trunk	muscle
48	chr17:33921800-33944000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr17:33922000-33938800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr17:33922400-33932600	Weak transcription	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links