Variant report

Variant	rs3851118
Chromosome Location	chr11:57280951-57280952
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:57280118..57282048-chr11:57295886..57298266,2	MCF-7	breast:
2	chr11:57279697..57283964-chr11:57296063..57300992,5	K562	blood:
3	chr11:57280138..57282809-chr11:57363760..57366213,2	MCF-7	breast:
4	chr11:57264825..57270955-chr11:57280277..57284813,10	K562	blood:
5	chr11:57265680..57269520-chr11:57278275..57283954,6	K562	blood:
6	chr11:57279843..57281546-chr11:57307791..57309359,2	K562	blood:
7	chr11:57102611..57104475-chr11:57280670..57283217,2	K562	blood:
8	chr11:57279377..57284601-chr11:57296598..57300992,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000149136	Chromatin interaction
ENSG00000149131	Chromatin interaction
ENSG00000134809	Chromatin interaction
ENSG00000149150	Chromatin interaction
ENSG00000214872	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10896623	0.85[CEU][hapmap];0.92[CHD][hapmap];0.88[GIH][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12277281	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3758921	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4938870	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4939148	0.85[CEU][hapmap];0.91[CHD][hapmap];0.87[GIH][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7109985	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7110678	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7925116	0.87[AMR][1000 genomes];0.90[EUR][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	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs3851118	SLC43A1	cis	cerebellum	SCAN
rs3851118	TIMM10	Cis_1M	lymphoblastoid	RTeQTL
rs3851118	OR5J2	cis	parietal	SCAN
rs3851118	OR8K5	cis	cerebellum	SCAN
rs3851118	SMTNL1	cis	Adipose Subcutaneous	GTEx
rs3851118	TIMM10	cis	lung	GTEx
rs3851118	P2RX3	cis	parietal	SCAN
rs3851118	TIMM10	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57251400-57281200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr11:57257400-57281400	Weak transcription	Primary T cells from cord blood	blood
3	chr11:57261400-57281400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr11:57267600-57281200	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr11:57267600-57281600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr11:57267800-57281400	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr11:57267800-57281400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr11:57267800-57281400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr11:57267800-57281600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr11:57267800-57281600	Weak transcription	NH-A	brain
11	chr11:57267800-57281800	Weak transcription	Aorta	Aorta
12	chr11:57268000-57281000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr11:57268000-57281800	Weak transcription	Small Intestine	intestine
14	chr11:57268200-57281600	Weak transcription	Brain Angular Gyrus	brain
15	chr11:57268400-57281800	Weak transcription	Fetal Lung	lung
16	chr11:57268600-57281800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr11:57268800-57281200	Weak transcription	Lung	lung
18	chr11:57268800-57281600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr11:57269000-57281400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:57269000-57281400	Weak transcription	Left Ventricle	heart
21	chr11:57269800-57281200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr11:57269800-57281400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:57270000-57281000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr11:57270000-57281400	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr11:57270200-57281200	Weak transcription	Gastric	stomach
26	chr11:57270200-57281400	Weak transcription	Right Ventricle	heart
27	chr11:57270200-57281400	Weak transcription	Spleen	Spleen
28	chr11:57271000-57281200	Weak transcription	Fetal Intestine Large	intestine
29	chr11:57272600-57281400	Weak transcription	Adipose Nuclei	Adipose
30	chr11:57273800-57281400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr11:57276200-57281200	Weak transcription	Ovary	ovary
32	chr11:57279200-57281000	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr11:57279200-57281400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr11:57279400-57281600	Enhancers	Primary B cells from peripheral blood	blood
35	chr11:57279600-57281600	Enhancers	Dnd41	blood
36	chr11:57279800-57281000	Strong transcription	Fetal Stomach	stomach
37	chr11:57280000-57281600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr11:57280200-57281000	Enhancers	H1 Cell Line	embryonic stem cell
39	chr11:57280200-57281200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr11:57280200-57281400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:57280200-57281800	Enhancers	Primary B cells from cord blood	blood
42	chr11:57280200-57282200	Flanking Active TSS	K562	blood
43	chr11:57280400-57281200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:57280400-57281200	Genic enhancers	Stomach Smooth Muscle	stomach
45	chr11:57280400-57281200	Flanking Active TSS	HepG2	liver
46	chr11:57280400-57281400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:57280400-57281800	Weak transcription	Esophagus	oesophagus
48	chr11:57280400-57283600	Active TSS	Pancreas	Pancrea
49	chr11:57280600-57281000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
50	chr11:57280600-57281000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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