Variant report

Variant	rs16880266
Chromosome Location	chr5:52086765-52086766
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:52086735..52088754-chr5:52094900..52097260,2	K562	blood:
2	chr5:52085315..52089325-chr5:52092594..52096400,4	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10054155	1.00[TSI][hapmap]
rs1363958	0.82[ASN][1000 genomes]
rs1363959	0.85[ASN][1000 genomes]
rs1363960	0.85[ASN][1000 genomes]
rs1363961	0.85[ASN][1000 genomes]
rs16880238	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1833883	0.83[ASN][1000 genomes]
rs1833884	0.82[ASN][1000 genomes]
rs2133476	0.88[ASN][1000 genomes]
rs2173525	0.88[ASN][1000 genomes]
rs2245991	1.00[CHB][hapmap];0.80[JPT][hapmap];0.84[ASN][1000 genomes]
rs2245997	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs2456210	1.00[YRI][hapmap]
rs2548503	0.85[ASN][1000 genomes]
rs2548504	0.85[ASN][1000 genomes]
rs2548505	0.85[ASN][1000 genomes]
rs2548506	0.85[ASN][1000 genomes]
rs2648732	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2648733	0.85[ASN][1000 genomes]
rs2648734	0.93[CHB][hapmap];0.93[CHD][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs2648735	1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs2648736	1.00[EUR][1000 genomes]
rs2936573	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3096173	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754787	chr5:51688543-52193243	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv462187	chr5:51758804-52333420	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv598163	chr5:51758804-52333420	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv471013	chr5:51779197-52339114	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv1027410	chr5:52022713-52103360	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1024123	chr5:52052104-52089545	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1020640	chr5:52058830-52120858	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv830295	chr5:52084532-52257696	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52082600-52087400	Active TSS	Right Atrium	heart
2	chr5:52082800-52087200	Active TSS	Psoas Muscle	Psoas
3	chr5:52083000-52087000	Active TSS	NHLF	lung
4	chr5:52083000-52087200	Active TSS	Left Ventricle	heart
5	chr5:52083000-52088000	Active TSS	Aorta	Aorta
6	chr5:52083200-52086800	Active TSS	Fetal Stomach	stomach
7	chr5:52083200-52086800	Active TSS	Stomach Smooth Muscle	stomach
8	chr5:52083200-52087000	Active TSS	Duodenum Mucosa	Duodenum
9	chr5:52083200-52087000	Active TSS	Fetal Muscle Leg	muscle
10	chr5:52083200-52088800	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr5:52083400-52087200	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr5:52084200-52087600	Flanking Active TSS	Dnd41	blood
13	chr5:52084600-52087400	Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr5:52084800-52087200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr5:52084800-52088200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr5:52084800-52093400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:52085200-52086800	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr5:52085200-52086800	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr5:52085200-52094400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr5:52085200-52094400	Weak transcription	A549	lung
21	chr5:52085200-52094400	Weak transcription	NHEK	skin
22	chr5:52085400-52086800	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr5:52085400-52087400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:52085400-52093000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr5:52085400-52094400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr5:52085400-52094400	Weak transcription	HMEC	breast
27	chr5:52085600-52087000	Weak transcription	Brain Substantia Nigra	brain
28	chr5:52085800-52086800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:52085800-52087200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr5:52085800-52087400	Enhancers	NHDF-Ad	bronchial
31	chr5:52085800-52094800	Weak transcription	Brain Anterior Caudate	brain
32	chr5:52086000-52087000	Enhancers	HepG2	liver
33	chr5:52086000-52087400	Flanking Active TSS	Liver	Liver
34	chr5:52086000-52093400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr5:52086000-52094200	Weak transcription	Fetal Intestine Large	intestine
36	chr5:52086200-52087000	Flanking Active TSS	Colon Smooth Muscle	Colon
37	chr5:52086200-52087200	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr5:52086200-52087400	Flanking Active TSS	Rectal Smooth Muscle	rectum
39	chr5:52086200-52090200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:52086200-52090600	Weak transcription	Fetal Kidney	kidney
41	chr5:52086200-52093800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr5:52086200-52093800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:52086200-52094200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:52086400-52087200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr5:52086400-52087400	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr5:52086400-52092600	Weak transcription	Fetal Intestine Small	intestine
47	chr5:52086400-52094400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr5:52086600-52086800	Flanking Active TSS	Fetal Lung	lung
49	chr5:52086600-52087000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr5:52086600-52087000	Weak transcription	Primary T cells from cord blood	blood

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