Variant report

Variant	rs7116734
Chromosome Location	chr11:121451940-121451941
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1629493	0.84[CHB][hapmap]
rs1699098	0.84[CHB][hapmap]
rs1699103	0.96[CEU][hapmap];0.87[GIH][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1699106	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1699108	0.96[CEU][hapmap];0.89[AMR][1000 genomes]
rs1784923	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1790213	0.96[CEU][hapmap]
rs1792125	0.96[CEU][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4420280	0.81[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs556349	0.86[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs639648	0.96[CEU][hapmap];0.89[AMR][1000 genomes]
rs640479	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs67140863	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7104977	0.97[ASN][1000 genomes]
rs7112853	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7116751	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7121447	0.80[CEU][hapmap]
rs924746	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv975233	chr11:121359656-121574786	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv527072	chr11:121448090-121486552	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7116734	GRIK4	cis	parietal	SCAN

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121407200-121459000	Weak transcription	Colon Smooth Muscle	Colon
2	chr11:121414000-121452400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr11:121416600-121471800	Strong transcription	Primary T cells from cord blood	blood
4	chr11:121417000-121452400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr11:121417600-121452400	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr11:121425000-121456800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:121431000-121466400	Weak transcription	Ovary	ovary
8	chr11:121434600-121453200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr11:121435200-121464800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:121437800-121453600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:121438400-121453600	Weak transcription	Colonic Mucosa	Colon
12	chr11:121440600-121485000	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr11:121440800-121452000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr11:121442200-121456800	Weak transcription	Esophagus	oesophagus
15	chr11:121443000-121455000	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr11:121443200-121452000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:121443400-121464600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:121443800-121456800	Weak transcription	Lung	lung
19	chr11:121443800-121458600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:121443800-121461600	Weak transcription	Pancreas	Pancrea
21	chr11:121444400-121452200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:121445000-121452000	Strong transcription	Fetal Intestine Small	intestine
23	chr11:121445000-121454600	Strong transcription	Fetal Intestine Large	intestine
24	chr11:121446800-121453200	Weak transcription	Right Atrium	heart
25	chr11:121448200-121452400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr11:121448200-121453600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr11:121448200-121453600	Weak transcription	Spleen	Spleen
28	chr11:121448400-121461200	Weak transcription	Gastric	stomach
29	chr11:121448800-121495600	Weak transcription	Stomach Mucosa	stomach
30	chr11:121449600-121452200	Weak transcription	Brain Anterior Caudate	brain
31	chr11:121449600-121457200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr11:121449800-121452000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:121449800-121452000	Strong transcription	Brain Hippocampus Middle	brain
34	chr11:121449800-121465800	Weak transcription	Adipose Nuclei	Adipose
35	chr11:121450000-121452400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr11:121450000-121452400	Weak transcription	Brain Cingulate Gyrus	brain
37	chr11:121450000-121452400	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr11:121450000-121453000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:121450000-121460200	Weak transcription	Brain Germinal Matrix	brain
40	chr11:121450200-121452400	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr11:121450200-121452400	Weak transcription	Thymus	Thymus
42	chr11:121450200-121452600	Weak transcription	Brain Angular Gyrus	brain
43	chr11:121450200-121453000	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr11:121450200-121453600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr11:121450200-121453800	Weak transcription	Aorta	Aorta
46	chr11:121450200-121453800	Weak transcription	HMEC	breast
47	chr11:121450200-121455200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr11:121450200-121456400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr11:121450200-121458600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr11:121450200-121460800	Strong transcription	Primary neutrophils fromperipheralblood	blood

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