Variant report

Variant	rs205092
Chromosome Location	chr17:19686658-19686659
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	chr17:19679774..19681757-chr17:19685256..19686882,2	MCF-7	breast:

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs115326	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs118943	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs123081	0.93[ASN][1000 genomes]
rs150122	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs157388	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs157389	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs157390	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs157394	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs157395	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs157396	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs157399	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs157400	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs157401	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs157402	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs157408	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs157409	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs166838	0.80[AMR][1000 genomes]
rs169460	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs169512	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs172186	0.82[ASN][1000 genomes]
rs176098	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs182214	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs184006	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs188138	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs205087	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs205088	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs205093	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs205094	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs205096	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs205098	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs205099	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs205100	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs205103	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs205104	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs205105	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs205107	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs205110	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs205112	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs205113	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs281325	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs281326	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs281327	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs281330	0.80[AMR][1000 genomes]
rs281332	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs281333	0.85[ASN][1000 genomes]
rs281336	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs281337	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs281338	0.87[ASN][1000 genomes]
rs281339	0.85[ASN][1000 genomes]
rs281340	0.87[ASN][1000 genomes]
rs281341	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs281342	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs281343	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs281346	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs281348	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs281350	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs281351	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs281352	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs281354	0.91[ASN][1000 genomes]
rs281355	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3098905	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3098907	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3101811	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3101812	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3101813	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3101815	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs379703	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs383951	0.83[ASN][1000 genomes]
rs394009	0.85[ASN][1000 genomes]
rs421561	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4586510	0.85[ASN][1000 genomes]
rs4925047	0.88[AMR][1000 genomes]
rs6587203	0.88[AMR][1000 genomes]
rs7225417	0.88[AMR][1000 genomes]
rs917519	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv1063892	chr17:19564634-19808485	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv907866	chr17:19582533-19697976	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv907867	chr17:19603060-19697976	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1061489	chr17:19654704-19705026	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv482398	chr17:19673458-19808039	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19666000-19691200	Weak transcription	Spleen	Spleen
2	chr17:19666000-19691800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr17:19670200-19694200	Weak transcription	Right Ventricle	heart
4	chr17:19670200-19699400	Weak transcription	Psoas Muscle	Psoas
5	chr17:19673800-19769800	Weak transcription	NH-A	brain
6	chr17:19674000-19699200	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr17:19674000-19699200	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr17:19675200-19693000	Weak transcription	Small Intestine	intestine
9	chr17:19675200-19695600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr17:19675400-19688200	Strong transcription	Fetal Muscle Trunk	muscle
11	chr17:19675600-19691200	Weak transcription	Esophagus	oesophagus
12	chr17:19675600-19693600	Strong transcription	Fetal Muscle Leg	muscle
13	chr17:19676000-19691200	Weak transcription	Fetal Thymus	thymus
14	chr17:19676400-19688000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr17:19676400-19688400	Strong transcription	Fetal Intestine Large	intestine
16	chr17:19676800-19691800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr17:19676800-19697000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr17:19676800-19699400	Weak transcription	Thymus	Thymus
19	chr17:19677000-19687800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr17:19677000-19688000	Strong transcription	Adipose Nuclei	Adipose
21	chr17:19677200-19691600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr17:19677400-19687800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr17:19677400-19696200	Weak transcription	Fetal Heart	heart
24	chr17:19677600-19696200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr17:19677800-19700000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr17:19678000-19698400	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr17:19678200-19687200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr17:19678200-19687400	Strong transcription	Placenta	Placenta
29	chr17:19678200-19688000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr17:19678200-19691200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr17:19678200-19698800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr17:19678200-19712000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr17:19678400-19687200	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr17:19678400-19692000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr17:19678800-19691800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr17:19678800-19698800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr17:19678800-19699200	Weak transcription	Colonic Mucosa	Colon
38	chr17:19679200-19687400	Strong transcription	Primary T cells from cord blood	blood
39	chr17:19679200-19688200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr17:19679200-19696400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr17:19679200-19699400	Strong transcription	Fetal Stomach	stomach
42	chr17:19679600-19700000	Weak transcription	HMEC	breast
43	chr17:19679600-19701000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr17:19679800-19691200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr17:19680000-19697200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr17:19680000-19726800	Weak transcription	NHLF	lung
47	chr17:19680600-19696600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr17:19680600-19698800	Weak transcription	HUVEC	blood vessel
49	chr17:19680800-19687000	Weak transcription	Fetal Intestine Small	intestine
50	chr17:19680800-19691200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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