Variant report

Variant	rs3750956
Chromosome Location	chr11:8126235-8126236
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10839983	1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11041759	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1406093	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2272384	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3750954	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs3930849	0.89[ASN][1000 genomes]
rs4758045	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4758295	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.93[MKK][hapmap];0.88[TSI][hapmap];0.81[YRI][hapmap];0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs57845267	0.84[ASN][1000 genomes]
rs59123180	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6578933	0.89[ASN][1000 genomes]
rs7113581	0.81[ASN][1000 genomes]
rs7481121	0.91[JPT][hapmap]
rs9783349	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052808	chr11:8011647-8129191	Bivalent Enhancer Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv1829170	chr11:8068594-8216369	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv428249	chr11:8068594-8216369	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs3750956	RRM1	cis	cerebellum	SCAN
rs3750956	OR2AG1	cis	cerebellum	SCAN
rs3750956	OR52I2	cis	parietal	SCAN
rs3750956	SNORA23	cis	parietal	SCAN
rs3750956	SBF2	cis	parietal	SCAN
rs3750956	OR51G2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8105800-8127400	Weak transcription	HepG2	liver
2	chr11:8112600-8129800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:8113200-8128600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:8114400-8128200	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr11:8114400-8130000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:8114400-8133600	Weak transcription	Liver	Liver
7	chr11:8114600-8126800	Weak transcription	Fetal Heart	heart
8	chr11:8115200-8128800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr11:8115400-8129400	Strong transcription	Ovary	ovary
10	chr11:8115800-8128800	Strong transcription	Stomach Smooth Muscle	stomach
11	chr11:8115800-8129400	Strong transcription	H1 Cell Line	embryonic stem cell
12	chr11:8116200-8132000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr11:8117000-8157600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr11:8117800-8126400	Strong transcription	Brain Anterior Caudate	brain
15	chr11:8117800-8126400	Strong transcription	Fetal Lung	lung
16	chr11:8117800-8128000	Strong transcription	Brain Inferior Temporal Lobe	brain
17	chr11:8118000-8126800	Strong transcription	Adipose Nuclei	Adipose
18	chr11:8118000-8129400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr11:8118000-8132600	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr11:8118200-8128600	Strong transcription	H9 Cell Line	embryonic stem cell
21	chr11:8118200-8128600	Strong transcription	Fetal Brain Female	brain
22	chr11:8118200-8132400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr11:8118400-8129600	Strong transcription	Fetal Stomach	stomach
24	chr11:8119400-8127200	Strong transcription	Left Ventricle	heart
25	chr11:8119800-8128800	Strong transcription	Fetal Muscle Trunk	muscle
26	chr11:8120400-8132400	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr11:8120600-8129400	Weak transcription	HSMM	muscle
28	chr11:8120600-8148400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:8120800-8126800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:8120800-8133200	Weak transcription	NHDF-Ad	bronchial
31	chr11:8121000-8129200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:8121000-8129400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr11:8121000-8131000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr11:8121400-8126400	Strong transcription	Osteobl	bone
35	chr11:8121400-8129400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:8121600-8128600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr11:8121600-8131600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr11:8121800-8126800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:8121800-8129000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:8122400-8127400	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr11:8122400-8129000	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr11:8122600-8128600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr11:8123000-8132400	Weak transcription	Fetal Brain Male	brain
44	chr11:8123200-8130600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr11:8123600-8130000	Weak transcription	Placenta	Placenta
46	chr11:8123600-8131200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr11:8123600-8132400	Weak transcription	Colon Smooth Muscle	Colon
48	chr11:8123800-8126600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr11:8123800-8128000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr11:8123800-8129600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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