Variant report

Variant	rs2288277
Chromosome Location	chr17:46651061-46651062
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11652148	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1553755	0.81[GIH][hapmap]
rs2288276	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2288279	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.84[TSI][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2740752	0.92[CHB][hapmap]
rs3826542	0.89[JPT][hapmap]
rs4646992	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6504380	0.83[ASN][1000 genomes]
rs6504389	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6504397	0.80[ASW][hapmap]
rs6504411	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs733920	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7405452	0.89[ASW][hapmap];0.91[CEU][hapmap];0.82[CHB][hapmap];0.83[GIH][hapmap];0.85[MEX][hapmap];0.86[AMR][1000 genomes]
rs7406170	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7406324	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7406798	0.80[ASW][hapmap]
rs7406910	0.82[AMR][1000 genomes]
rs7503053	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7503235	0.83[ASN][1000 genomes]
rs890431	0.84[AMR][1000 genomes]
rs9221	0.91[CEU][hapmap];0.82[CHB][hapmap];0.85[MEX][hapmap];0.84[AMR][1000 genomes]
rs9903182	0.82[CHB][hapmap];0.84[AMR][1000 genomes]
rs9905793	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9907987	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833469	chr17:46491849-46709406	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
2	esv3420538	chr17:46504944-46861553	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	369 gene(s)	inside rSNPs	diseases
3	nsv908577	chr17:46584900-46704536	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	343 gene(s)	inside rSNPs	diseases
4	nsv908578	chr17:46592413-46698710	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	335 gene(s)	inside rSNPs	diseases
5	nsv908579	chr17:46592413-46727289	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
6	nsv532113	chr17:46598247-47588570	Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	453 gene(s)	inside rSNPs	diseases
7	esv2758459	chr17:46602673-46836837	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	364 gene(s)	inside rSNPs	diseases
8	esv2758694	chr17:46602673-46836837	Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	364 gene(s)	inside rSNPs	diseases
9	nsv908580	chr17:46609103-46698710	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	335 gene(s)	inside rSNPs	diseases
10	nsv908581	chr17:46610646-46735520	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
11	nsv575480	chr17:46617019-46684929	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
12	nsv908582	chr17:46617019-46698710	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
13	nsv908583	chr17:46617019-46704536	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	342 gene(s)	inside rSNPs	diseases
14	nsv833471	chr17:46617787-46783345	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	356 gene(s)	inside rSNPs	diseases
15	nsv908584	chr17:46618926-46735520	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
16	nsv457822	chr17:46620402-46698710	Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
17	nsv575481	chr17:46620402-46698710	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
18	nsv457823	chr17:46620402-46704536	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	342 gene(s)	inside rSNPs	diseases
19	nsv575482	chr17:46620402-46704536	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	342 gene(s)	inside rSNPs	diseases
20	nsv457824	chr17:46625519-46693491	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
21	nsv575483	chr17:46625519-46693491	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
22	esv1007307	chr17:46638901-46653131	Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46635000-46654600	Weak transcription	Hela-S3	cervix
2	chr17:46644600-46652200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr17:46644600-46654200	Weak transcription	Spleen	Spleen
4	chr17:46645800-46652200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr17:46646400-46652000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
6	chr17:46646400-46654800	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
7	chr17:46647400-46653600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr17:46648400-46652400	Weak transcription	HSMMtube	muscle
9	chr17:46648600-46651200	Flanking Active TSS	Rectal Smooth Muscle	rectum
10	chr17:46648600-46651600	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr17:46648600-46652800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr17:46648800-46651200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr17:46648800-46654200	Weak transcription	Primary T cells from cord blood	blood
14	chr17:46648800-46654800	Weak transcription	Gastric	stomach
15	chr17:46649000-46651600	Weak transcription	Aorta	Aorta
16	chr17:46649000-46652800	Weak transcription	HSMM	muscle
17	chr17:46649600-46653000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr17:46649600-46653600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr17:46649800-46651200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr17:46650000-46653200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr17:46650200-46651200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr17:46650200-46651400	Flanking Bivalent TSS/Enh	Fetal Lung	lung
23	chr17:46650200-46651800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr17:46650400-46652200	Enhancers	Placenta Amnion	Placenta Amnion
25	chr17:46650400-46653400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr17:46650600-46651200	Flanking Active TSS	Fetal Kidney	kidney
27	chr17:46650600-46651800	Bivalent Enhancer	Fetal Thymus	thymus
28	chr17:46650600-46651800	Weak transcription	A549	lung
29	chr17:46650600-46652600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
30	chr17:46650600-46653800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr17:46650600-46654000	Flanking Active TSS	HUVEC	blood vessel
32	chr17:46650600-46654200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr17:46650600-46655200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
34	chr17:46650800-46651200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
35	chr17:46650800-46651200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
36	chr17:46650800-46651200	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr17:46650800-46651200	Flanking Active TSS	K562	blood
38	chr17:46650800-46651400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr17:46650800-46651400	Flanking Bivalent TSS/Enh	NHEK	skin
40	chr17:46650800-46651600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
41	chr17:46650800-46651600	Active TSS	Stomach Smooth Muscle	stomach
42	chr17:46650800-46653400	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr17:46651000-46651200	Bivalent Enhancer	Fetal Muscle Leg	muscle
44	chr17:46651000-46651200	Bivalent Enhancer	NH-A	brain
45	chr17:46651000-46651600	Enhancers	Colonic Mucosa	Colon
46	chr17:46651000-46651600	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr17:46651000-46651600	Active TSS	NHLF	lung
48	chr17:46651000-46651800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
49	chr17:46651000-46651800	Active TSS	Colon Smooth Muscle	Colon
50	chr17:46651000-46652000	Strong transcription	Sigmoid Colon	Sigmoid Colon

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