Variant report

Variant	rs27353
Chromosome Location	chr5:14816622-14816623
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14815464..14817984-chr5:14822641..14824319,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1550826	0.84[MKK][hapmap]
rs1620976	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1679138	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1812659	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2448493	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2453320	0.85[ASN][1000 genomes]
rs258220	0.89[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs258232	0.85[ASN][1000 genomes]
rs25946	0.84[CHB][hapmap];0.91[MEX][hapmap]
rs26304	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs26305	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs26306	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs30613	0.94[CHB][hapmap];0.87[CHD][hapmap];0.84[ASN][1000 genomes]
rs31907	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs31910	0.82[ASW][hapmap];0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs31911	0.92[CEU][hapmap];0.87[CHB][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs31917	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs31987	0.85[CEU][hapmap];0.94[CHB][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs31988	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs31989	0.85[CEU][hapmap];0.94[CHB][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs31990	0.80[CHB][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs379016	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs40402	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs412056	0.88[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[MEX][hapmap];0.80[TSI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs42274	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs826351	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs826355	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs826356	0.94[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];0.93[TSI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs826358	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[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	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv948447	chr5:14771247-14852610	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830212	chr5:14784197-14966683	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	esv2753381	chr5:14814900-14882800	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	esv2755533	chr5:14814900-14882800	Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
6	esv2755538	chr5:14814900-14927500	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14778200-14817200	Weak transcription	Fetal Brain Female	brain
2	chr5:14796400-14821800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr5:14811400-14821400	Weak transcription	Fetal Heart	heart
4	chr5:14811600-14816800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:14811600-14816800	Weak transcription	Adipose Nuclei	Adipose
6	chr5:14811600-14816800	Weak transcription	Liver	Liver
7	chr5:14811600-14816800	Weak transcription	Lung	lung
8	chr5:14811600-14819400	Weak transcription	Esophagus	oesophagus
9	chr5:14811600-14825000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr5:14811600-14827400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr5:14811600-14827600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr5:14811600-14843800	Weak transcription	Fetal Intestine Large	intestine
13	chr5:14811600-14861200	Weak transcription	Colonic Mucosa	Colon
14	chr5:14812000-14817400	Weak transcription	Hela-S3	cervix
15	chr5:14812000-14849600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr5:14812200-14820600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:14812600-14821000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:14812800-14816800	Weak transcription	Aorta	Aorta
19	chr5:14813200-14817800	Weak transcription	GM12878-XiMat	blood
20	chr5:14813400-14817400	Weak transcription	Primary B cells from peripheral blood	blood
21	chr5:14813800-14816800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr5:14814000-14816800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr5:14814000-14824800	Weak transcription	HepG2	liver
24	chr5:14814000-14835000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr5:14814200-14819200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr5:14814200-14820200	Weak transcription	Primary T cells from cord blood	blood
27	chr5:14814200-14820600	Weak transcription	Fetal Intestine Small	intestine
28	chr5:14814200-14827000	Weak transcription	Dnd41	blood
29	chr5:14814400-14842200	Weak transcription	Thymus	Thymus
30	chr5:14814800-14826800	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr5:14815000-14818000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:14815200-14817200	Enhancers	Psoas Muscle	Psoas
33	chr5:14815400-14817400	Enhancers	Right Ventricle	heart
34	chr5:14815600-14816800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr5:14815800-14816800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:14815800-14817400	Enhancers	Left Ventricle	heart
37	chr5:14815800-14817800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:14815800-14818000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr5:14815800-14818000	Enhancers	Brain Substantia Nigra	brain
40	chr5:14815800-14818400	Enhancers	HMEC	breast
41	chr5:14816000-14816800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr5:14816000-14817800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr5:14816000-14817800	Enhancers	Brain Angular Gyrus	brain
44	chr5:14816000-14818200	Enhancers	Brain Hippocampus Middle	brain
45	chr5:14816200-14816800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr5:14816200-14817200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr5:14816200-14817600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr5:14816200-14817800	Enhancers	Right Atrium	heart
49	chr5:14816200-14817800	Enhancers	NH-A	brain
50	chr5:14816200-14821400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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