Variant report

Variant	rs8080648
Chromosome Location	chr17:33976573-33976574
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10491114	0.89[AFR][1000 genomes]
rs10491115	0.89[AFR][1000 genomes]
rs11870399	0.85[AFR][1000 genomes]
rs12450039	0.95[AFR][1000 genomes]
rs2301731	0.89[AFR][1000 genomes]
rs28384428	0.87[AFR][1000 genomes]
rs28661650	0.93[AFR][1000 genomes]
rs3785759	0.89[AFR][1000 genomes]
rs62079728	0.85[AFR][1000 genomes]
rs7213022	0.84[AFR][1000 genomes]
rs9303689	0.89[AFR][1000 genomes]
rs9891317	0.83[AFR][1000 genomes]
rs9901142	0.83[AFR][1000 genomes]
rs9904957	0.89[AFR][1000 genomes]
rs9906037	0.89[AFR][1000 genomes]
rs9907911	0.95[AFR][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	chr17:33921000-34024400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:33931000-34040200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr17:33933000-33997800	Weak transcription	Esophagus	oesophagus
5	chr17:33948800-34010600	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr17:33949000-33986400	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr17:33949200-34001200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr17:33950800-33978800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr17:33954200-33982000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr17:33954600-34001800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr17:33954600-34006000	Weak transcription	Stomach Mucosa	stomach
12	chr17:33958200-33981000	Strong transcription	A549	lung
13	chr17:33958200-33983000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr17:33958200-33992400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr17:33958200-33992400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr17:33959200-33978600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr17:33960000-34024600	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr17:33960200-33987600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr17:33961800-33978000	Strong transcription	Fetal Intestine Large	intestine
20	chr17:33963400-34001200	Weak transcription	Aorta	Aorta
21	chr17:33965000-33980400	Weak transcription	Pancreas	Pancrea
22	chr17:33966000-34002000	Strong transcription	Primary T cells from cord blood	blood
23	chr17:33968000-33977200	Weak transcription	Gastric	stomach
24	chr17:33968000-33997600	Weak transcription	HSMMtube	muscle
25	chr17:33968000-34055800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr17:33968200-33977800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr17:33968200-33984600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr17:33968400-33977600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr17:33968400-33977600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr17:33968400-33984600	Weak transcription	Fetal Kidney	kidney
31	chr17:33968400-33997800	Weak transcription	Brain Substantia Nigra	brain
32	chr17:33968600-33977200	Weak transcription	Thymus	Thymus
33	chr17:33968600-33980400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr17:33969000-33976800	Weak transcription	Spleen	Spleen
35	chr17:33969000-33977200	Weak transcription	Fetal Brain Female	brain
36	chr17:33969000-33977400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr17:33969000-33989800	Weak transcription	Psoas Muscle	Psoas
38	chr17:33969000-34001200	Weak transcription	Right Ventricle	heart
39	chr17:33969200-33977200	Weak transcription	Lung	lung
40	chr17:33969200-33977400	Weak transcription	Brain Angular Gyrus	brain
41	chr17:33969200-33985600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr17:33969400-33977200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr17:33969400-33977600	Weak transcription	NHLF	lung
44	chr17:33969400-33982400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr17:33969400-34001200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr17:33969600-33977400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr17:33969600-33985800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr17:33969600-33997600	Weak transcription	Brain Anterior Caudate	brain
49	chr17:33969600-33998600	Weak transcription	Fetal Brain Male	brain
50	chr17:33969800-33977600	Weak transcription	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links