Variant report

Variant	rs11648938
Chromosome Location	chr16:12094149-12094150
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11639821	0.83[MEX][hapmap]
rs11648404	1.00[CEU][hapmap]
rs1703492	0.91[MEX][hapmap]
rs2541583	0.83[MEX][hapmap]
rs2869492	0.92[CEU][hapmap]
rs3916255	0.84[AMR][1000 genomes]
rs6498261	0.83[MEX][hapmap]
rs8045634	0.96[CEU][hapmap];0.83[TSI][hapmap]
rs8050827	0.96[CEU][hapmap];0.83[MEX][hapmap];0.85[TSI][hapmap]
rs8051349	1.00[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8062691	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[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	nsv1042660	chr16:11846873-12110435	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv905347	chr16:12010444-12243329	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv482458	chr16:12014925-12145977	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv1043959	chr16:12039346-12285269	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv984259	chr16:12092609-12104575	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs11648938	RP11-166B2.1	cis	Nerve Tibial	GTEx
rs11648938	RP11-166B2.1	cis	Whole Blood	GTEx
rs11648938	RP11-166B2.1	cis	Heart Left Ventricle	GTEx
rs11648938	RP11-166B2.1	cis	Esophagus Muscularis	GTEx
rs11648938	RP11-166B2.1	cis	Adipose Subcutaneous	GTEx
rs11648938	RP11-166B2.1	cis	Skin Sun Exposed Lower leg	GTEx
rs11648938	RP11-166B2.1	cis	Thyroid	GTEx
rs11648938	RP11-166B2.1	cis	Artery Tibial	GTEx

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12071400-12130800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr16:12071800-12140200	Weak transcription	Fetal Intestine Small	intestine
3	chr16:12072200-12096600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr16:12072200-12102600	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr16:12072400-12096400	Weak transcription	Ovary	ovary
6	chr16:12072400-12104400	Weak transcription	NHLF	lung
7	chr16:12072600-12099000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr16:12072800-12102800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr16:12079600-12109600	Weak transcription	Gastric	stomach
10	chr16:12083400-12102800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr16:12085400-12118200	Weak transcription	Esophagus	oesophagus
12	chr16:12086800-12096600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr16:12088200-12100800	Weak transcription	Fetal Brain Female	brain
14	chr16:12088600-12098200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr16:12088600-12104200	Weak transcription	Right Ventricle	heart
16	chr16:12088600-12109200	Weak transcription	Fetal Kidney	kidney
17	chr16:12088600-12110000	Weak transcription	NH-A	brain
18	chr16:12088800-12094400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr16:12088800-12096400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr16:12088800-12096400	Weak transcription	Right Atrium	heart
21	chr16:12088800-12098600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr16:12088800-12106600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr16:12088800-12108200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr16:12088800-12115400	Weak transcription	Placenta	Placenta
25	chr16:12089000-12094400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr16:12089000-12094400	Weak transcription	Left Ventricle	heart
27	chr16:12089000-12094600	Weak transcription	Brain Angular Gyrus	brain
28	chr16:12089000-12099800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr16:12089000-12104400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr16:12089400-12103000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr16:12090200-12094200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr16:12090800-12096400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr16:12091000-12103000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr16:12091200-12095600	Weak transcription	K562	blood
35	chr16:12091200-12096400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr16:12091200-12096400	Weak transcription	Fetal Muscle Leg	muscle
37	chr16:12091200-12096600	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr16:12091200-12098400	Weak transcription	Pancreas	Pancrea
39	chr16:12091400-12096000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr16:12091400-12103000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr16:12091800-12101200	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr16:12092000-12094400	Weak transcription	Spleen	Spleen
43	chr16:12092200-12094800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr16:12092200-12096600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr16:12092400-12094400	Weak transcription	Fetal Thymus	thymus
46	chr16:12092400-12095000	Strong transcription	Primary B cells from cord blood	blood
47	chr16:12092400-12105600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr16:12092400-12110200	Weak transcription	NHEK	skin
49	chr16:12092600-12094800	Enhancers	Brain Hippocampus Middle	brain
50	chr16:12092600-12096400	Weak transcription	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links