Variant report

Variant	rs225277
Chromosome Location	chr17:33973311-33973312
allele	C/T
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	STAT3	chr17:33973224-33973369	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
AP2B1	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10068	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1037590	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs1037592	0.84[ASN][1000 genomes]
rs10512472	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs11080357	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11653310	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes]
rs11653357	0.81[ASN][1000 genomes]
rs11655803	0.83[ASN][1000 genomes]
rs11656138	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11868206	0.81[ASN][1000 genomes]
rs12452797	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs12604067	0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs12947592	0.84[ASN][1000 genomes]
rs12948669	0.81[ASN][1000 genomes]
rs1671656	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16971217	0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs16971227	0.83[ASN][1000 genomes]
rs17637907	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.86[EUR][1000 genomes]
rs225243	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs225247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs225251	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs225254	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs225259	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs225262	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225285	0.90[CEU][hapmap]
rs225295	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs225304	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs225306	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2840044	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.86[EUR][1000 genomes]
rs28667378	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35237539	0.81[ASN][1000 genomes]
rs7212704	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8069037	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8073935	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9890191	0.83[ASN][1000 genomes]
rs9891574	0.84[ASN][1000 genomes]
rs9891800	0.87[EUR][1000 genomes]
rs9897552	0.85[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs9899860	0.82[ASN][1000 genomes]
rs9899927	0.82[ASN][1000 genomes]
rs9900378	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9907772	0.82[ASN][1000 genomes]
rs9908158	0.81[EUR][1000 genomes]
rs9913003	0.87[EUR][1000 genomes]
rs9913875	0.82[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

No data

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	chr17:33920800-33975800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr17:33921000-34024400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr17:33931000-34040200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:33933000-33997800	Weak transcription	Esophagus	oesophagus
6	chr17:33948400-33973400	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr17:33948600-33973600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr17:33948800-34010600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr17:33949000-33986400	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr17:33949200-34001200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr17:33950600-33973400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr17:33950800-33973400	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr17:33950800-33975400	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr17:33950800-33975800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr17:33950800-33978800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr17:33951400-33973400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr17:33951400-33973600	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr17:33954200-33982000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr17:33954600-34001800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr17:33954600-34006000	Weak transcription	Stomach Mucosa	stomach
21	chr17:33958200-33981000	Strong transcription	A549	lung
22	chr17:33958200-33983000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr17:33958200-33992400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr17:33958200-33992400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr17:33959200-33978600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr17:33960000-33973400	Strong transcription	K562	blood
27	chr17:33960000-33973800	Strong transcription	Primary B cells from cord blood	blood
28	chr17:33960000-34024600	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr17:33960200-33973400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr17:33960200-33987600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr17:33960400-33975800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr17:33961000-33975400	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr17:33961200-33973400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr17:33961200-33973400	Strong transcription	Duodenum Mucosa	Duodenum
35	chr17:33961200-33973400	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr17:33961200-33975600	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr17:33961800-33973400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr17:33961800-33973600	Strong transcription	Adipose Nuclei	Adipose
39	chr17:33961800-33978000	Strong transcription	Fetal Intestine Large	intestine
40	chr17:33962000-33973400	Strong transcription	Fetal Muscle Trunk	muscle
41	chr17:33962400-33973400	Strong transcription	Placenta	Placenta
42	chr17:33963000-33975400	Strong transcription	HUVEC	blood vessel
43	chr17:33963200-33973600	Strong transcription	NHEK	skin
44	chr17:33963400-34001200	Weak transcription	Aorta	Aorta
45	chr17:33965000-33980400	Weak transcription	Pancreas	Pancrea
46	chr17:33966000-34002000	Strong transcription	Primary T cells from cord blood	blood
47	chr17:33968000-33977200	Weak transcription	Gastric	stomach
48	chr17:33968000-33997600	Weak transcription	HSMMtube	muscle
49	chr17:33968000-34055800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr17:33968200-33977800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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