Variant report

Variant	rs9927967
Chromosome Location	chr16:69911997-69911998
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10852460	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10852461	0.96[ASN][1000 genomes]
rs11075742	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11075744	0.90[ASN][1000 genomes]
rs1116544	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11642008	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11648348	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1466863	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1500337	0.92[ASN][1000 genomes]
rs1566453	0.88[ASN][1000 genomes]
rs1566454	0.92[ASN][1000 genomes]
rs1566456	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2133799	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2362642	0.96[ASN][1000 genomes]
rs3790075	0.92[ASN][1000 genomes]
rs3790076	0.92[ASN][1000 genomes]
rs3790080	0.92[ASN][1000 genomes]
rs3790082	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3790083	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4985447	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4985448	0.92[ASN][1000 genomes]
rs4985449	0.92[ASN][1000 genomes]
rs4985450	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55887947	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6499263	0.83[ASN][1000 genomes]
rs6499265	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6499268	0.92[ASN][1000 genomes]
rs6499269	0.81[ASN][1000 genomes]
rs7190013	0.92[ASN][1000 genomes]
rs7200258	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7202233	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73572177	0.87[ASN][1000 genomes]
rs8047194	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8047682	0.96[ASN][1000 genomes]
rs8048550	0.84[ASN][1000 genomes]
rs8049373	0.96[ASN][1000 genomes]
rs8050516	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8051168	0.81[ASN][1000 genomes]
rs8060478	0.88[ASN][1000 genomes]
rs8063226	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9936589	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9936723	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906823	chr16:69711533-69959223	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats 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	54 gene(s)	inside rSNPs	diseases
2	nsv1062171	chr16:69854267-70188585	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv542941	chr16:69854267-70188585	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1059249	chr16:69854467-70188446	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
5	nsv542942	chr16:69854467-70188446	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS 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 miRNA target site	63 gene(s)	inside rSNPs	diseases
6	esv2758428	chr16:69855122-70313222	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	esv2758652	chr16:69855122-70313222	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9927967	LOC440348	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69890400-69923400	Weak transcription	HUVEC	blood vessel
2	chr16:69893000-69934800	Weak transcription	Hela-S3	cervix
3	chr16:69893200-69923000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr16:69900000-69914600	Weak transcription	NHLF	lung
5	chr16:69900200-69914600	Weak transcription	NH-A	brain
6	chr16:69900800-69915600	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr16:69900800-69933400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr16:69901000-69912600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr16:69901000-69915200	Strong transcription	Primary B cells from peripheral blood	blood
10	chr16:69901000-69915200	Strong transcription	Primary T cells from cord blood	blood
11	chr16:69901000-69918800	Strong transcription	Fetal Intestine Large	intestine
12	chr16:69901800-69922000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr16:69901800-69924600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr16:69902000-69912400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr16:69902600-69914400	Weak transcription	HSMM	muscle
16	chr16:69902600-69924800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr16:69903200-69912800	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr16:69903800-69917600	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr16:69904200-69951200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr16:69904800-69915000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr16:69905000-69915000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr16:69905200-69917400	Weak transcription	NHEK	skin
23	chr16:69905600-69912000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr16:69905600-69915400	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr16:69906800-69923000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr16:69907000-69914400	Weak transcription	NHDF-Ad	bronchial
27	chr16:69907200-69922000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr16:69907200-69923600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr16:69907400-69923000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr16:69907400-69923800	Weak transcription	HMEC	breast
31	chr16:69907600-69942600	Weak transcription	Small Intestine	intestine
32	chr16:69907800-69916400	Weak transcription	Esophagus	oesophagus
33	chr16:69908000-69924200	Weak transcription	Colon Smooth Muscle	Colon
34	chr16:69908200-69943000	Weak transcription	Right Ventricle	heart
35	chr16:69908400-69914600	Weak transcription	Pancreas	Pancrea
36	chr16:69908400-69919600	Weak transcription	Gastric	stomach
37	chr16:69908400-69921800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr16:69908600-69913800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr16:69909000-69922000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr16:69909800-69912000	ZNF genes & repeats	Fetal Intestine Small	intestine
41	chr16:69910600-69937400	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr16:69910800-69914400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr16:69911000-69915800	Weak transcription	Stomach Mucosa	stomach
44	chr16:69911000-69923000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr16:69911200-69912000	Weak transcription	Fetal Heart	heart
46	chr16:69911200-69912200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr16:69911200-69912200	Strong transcription	Fetal Stomach	stomach
48	chr16:69911200-69913600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr16:69911200-69914400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr16:69911200-69914400	Weak transcription	Aorta	Aorta

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