Variant report

Variant	rs2058769
Chromosome Location	chr16:47347780-47347781
allele	C/T
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:7)

rs_ID	r²[population]
rs12051064	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes]
rs12925877	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17811434	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs3095627	0.89[GIH][hapmap]
rs34535698	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7200665	0.86[ASW][hapmap];0.88[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7200954	0.84[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795199	chr16:47111119-47732476	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv1803802	chr16:47115776-47367144	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv906660	chr16:47123724-47347780	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1059763	chr16:47147194-47373834	ZNF genes & repeats Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv528423	chr16:47163874-47347780	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	esv1832105	chr16:47223418-47347780	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv916572	chr16:47227786-47646103	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv933151	chr16:47236330-47646103	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	esv2757637	chr16:47261512-47595005	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	esv2758644	chr16:47261512-47606287	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv1060396	chr16:47264261-47469345	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv428656	chr16:47316866-47469918	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	esv2758423	chr16:47316866-47606287	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
14	nsv427983	chr16:47316866-47606287	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47311400-47362200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr16:47318000-47354200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr16:47319400-47348200	Weak transcription	Colon Smooth Muscle	Colon
4	chr16:47319600-47350400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr16:47331400-47347800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr16:47333000-47350200	Weak transcription	Brain Germinal Matrix	brain
7	chr16:47333400-47371600	Weak transcription	Esophagus	oesophagus
8	chr16:47333600-47350400	Weak transcription	Fetal Brain Female	brain
9	chr16:47333600-47354600	Weak transcription	HSMMtube	muscle
10	chr16:47334000-47350200	Weak transcription	Fetal Kidney	kidney
11	chr16:47334000-47350200	Weak transcription	Fetal Lung	lung
12	chr16:47334000-47354600	Weak transcription	HSMM	muscle
13	chr16:47334400-47348200	Weak transcription	Lung	lung
14	chr16:47334400-47349600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr16:47334400-47351400	Weak transcription	Fetal Stomach	stomach
16	chr16:47334400-47355200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr16:47334400-47357000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr16:47334400-47357400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr16:47334400-47371200	Weak transcription	Aorta	Aorta
20	chr16:47334400-47371600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr16:47334400-47371600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr16:47334600-47348000	Weak transcription	Fetal Muscle Leg	muscle
23	chr16:47334600-47349600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr16:47334600-47354000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr16:47334600-47372800	Weak transcription	Primary T cells from cord blood	blood
26	chr16:47342800-47354400	Weak transcription	NHDF-Ad	bronchial
27	chr16:47342800-47364800	Weak transcription	Primary B cells from cord blood	blood
28	chr16:47344600-47371600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr16:47344800-47354600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr16:47344800-47358800	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr16:47344800-47370200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr16:47345000-47349200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr16:47345200-47348600	Weak transcription	Liver	Liver
34	chr16:47345200-47349800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr16:47345200-47357600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr16:47345800-47354400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr16:47346200-47348000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr16:47346200-47348200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr16:47346200-47348800	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr16:47346200-47349200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr16:47346200-47349400	Weak transcription	Brain Anterior Caudate	brain
42	chr16:47346200-47350200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr16:47346200-47350400	Weak transcription	Brain Angular Gyrus	brain
44	chr16:47346200-47350400	Weak transcription	Brain Hippocampus Middle	brain
45	chr16:47346200-47351400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr16:47346200-47351600	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr16:47346200-47351600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr16:47346200-47371600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr16:47346400-47348200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr16:47346400-47348800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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