Variant report

Variant	rs11079770
Chromosome Location	chr17:45358350-45358351
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45349283..45353321-chr17:45355036..45358362,4	K562	blood:
2	chr17:45342094..45343983-chr17:45358070..45360151,2	K562	blood:
3	chr17:45358149..45359670-chr17:45360367..45361975,2	K562	blood:
4	chr17:45352188..45358928-chr17:45361878..45368448,10	K562	blood:

Variant related genes	Relation type
ENSG00000259207	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11656693	0.88[ASN][1000 genomes]
rs12709458	1.00[ASW][hapmap];0.83[CHB][hapmap];0.89[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2292867	0.91[CHB][hapmap];0.98[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.99[ASN][1000 genomes]
rs34491511	0.86[ASN][1000 genomes]
rs3892084	0.90[CEU][hapmap];0.87[CHB][hapmap];0.89[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4060813	0.83[EUR][1000 genomes]
rs4470207	0.88[ASN][1000 genomes]
rs4525555	0.83[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs4598971	0.88[ASN][1000 genomes]
rs4629024	0.83[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs67696888	0.99[ASN][1000 genomes]
rs8077753	0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11079770	IFI35	cis	cerebellum	SCAN
rs11079770	HOXB8	cis	cerebellum	SCAN
rs11079770	PTRF	cis	parietal	SCAN
rs11079770	NPEPPS	cis	parietal	SCAN

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45350600-45359400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr17:45351600-45359000	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr17:45351800-45359200	Enhancers	Primary B cells from peripheral blood	blood
4	chr17:45352000-45358800	Enhancers	NHLF	lung
5	chr17:45352200-45358400	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr17:45352400-45359200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr17:45354600-45359000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr17:45354600-45372000	Weak transcription	Esophagus	oesophagus
9	chr17:45355600-45358400	Enhancers	Left Ventricle	heart
10	chr17:45355600-45359200	Enhancers	Placenta	Placenta
11	chr17:45355800-45358400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr17:45355800-45358800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr17:45356000-45359200	Enhancers	HMEC	breast
14	chr17:45356200-45362000	Weak transcription	Liver	Liver
15	chr17:45356600-45358400	Enhancers	HSMM	muscle
16	chr17:45356800-45359000	Enhancers	K562	blood
17	chr17:45356800-45359800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr17:45356800-45377200	Weak transcription	Fetal Intestine Large	intestine
19	chr17:45357200-45358400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr17:45357200-45358400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr17:45357200-45359000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr17:45357200-45359800	Weak transcription	HUVEC	blood vessel
23	chr17:45357200-45363800	Weak transcription	Fetal Heart	heart
24	chr17:45357200-45371600	Weak transcription	Right Ventricle	heart
25	chr17:45357200-45398000	Weak transcription	Psoas Muscle	Psoas
26	chr17:45357400-45358800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr17:45357400-45359000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr17:45357600-45358400	Enhancers	NH-A	brain
29	chr17:45357600-45358600	Enhancers	Colon Smooth Muscle	Colon
30	chr17:45357600-45358800	Enhancers	NHDF-Ad	bronchial
31	chr17:45357600-45359000	Enhancers	Osteobl	bone
32	chr17:45357600-45359200	Enhancers	GM12878-XiMat	blood
33	chr17:45357600-45360600	Weak transcription	Fetal Stomach	stomach
34	chr17:45357800-45359000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr17:45357800-45359200	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr17:45357800-45360400	Weak transcription	Aorta	Aorta
37	chr17:45357800-45365800	Weak transcription	Ovary	ovary
38	chr17:45357800-45365800	Weak transcription	HSMMtube	muscle
39	chr17:45357800-45369400	Weak transcription	Fetal Intestine Small	intestine
40	chr17:45358000-45358600	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr17:45358000-45358600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr17:45358000-45359000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr17:45358000-45359800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr17:45358000-45361400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr17:45358200-45358400	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr17:45358200-45358400	Enhancers	Duodenum Mucosa	Duodenum
47	chr17:45358200-45358400	Enhancers	Rectal Smooth Muscle	rectum
48	chr17:45358200-45358600	Weak transcription	Lung	lung
49	chr17:45358200-45359000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr17:45358200-45360800	Weak transcription	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links