Variant report

Variant	rs757351
Chromosome Location	chr17:46081041-46081042
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46062331..46065308-chr17:46079122..46082112,2	K562	blood:
2	chr17:45973409..45975008-chr17:46079906..46081781,2	K562	blood:
3	chr17:46062331..46065040-chr17:46080612..46082593,2	K562	blood:
4	chr17:46067363..46070212-chr17:46079475..46083776,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167182	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1076236	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12602494	0.83[CHB][hapmap]
rs2002448	0.97[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2597160	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2597175	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2905855	1.00[ASW][hapmap];0.81[CEU][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes]
rs3096	0.83[CHB][hapmap]
rs4793733	0.83[CHB][hapmap]
rs882163	0.84[CEU][hapmap];0.84[CHB][hapmap];0.87[JPT][hapmap]
rs886445	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][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	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs757351	ACP6	trans	cerebellum	SCAN
rs757351	KLHL11	cis	cerebellum	SCAN
rs757351	SCRN2	cis	lymphoblastoid	seeQTL
rs757351	PNPO	cis	parietal	SCAN
rs757351	SCRN2	Cis_1M	lymphoblastoid	RTeQTL
rs757351	NFE2L1	cis	parietal	SCAN
rs757351	PNPO	cis	cerebellum	SCAN
rs757351	C17orf57	cis	parietal	SCAN

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46076400-46084600	Enhancers	Fetal Brain Male	brain
2	chr17:46076800-46085600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr17:46077000-46084000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr17:46078400-46083200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr17:46078600-46083000	Enhancers	HSMMtube	muscle
6	chr17:46078800-46081600	Enhancers	Brain Cingulate Gyrus	brain
7	chr17:46078800-46082800	Enhancers	Fetal Stomach	stomach
8	chr17:46078800-46083000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr17:46078800-46084000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr17:46078800-46084800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr17:46079000-46081800	Enhancers	Adipose Nuclei	Adipose
12	chr17:46079000-46083000	Enhancers	Placenta	Placenta
13	chr17:46079200-46081400	Enhancers	Fetal Muscle Trunk	muscle
14	chr17:46079200-46082600	Enhancers	Fetal Muscle Leg	muscle
15	chr17:46079200-46083800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr17:46079200-46083800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr17:46079400-46082800	Enhancers	H9 Cell Line	embryonic stem cell
18	chr17:46079600-46081200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr17:46079600-46081200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr17:46079600-46081400	Enhancers	Fetal Lung	lung
21	chr17:46079600-46081400	Enhancers	Fetal Thymus	thymus
22	chr17:46079600-46081400	Enhancers	Spleen	Spleen
23	chr17:46079600-46081600	Enhancers	NHDF-Ad	bronchial
24	chr17:46079600-46082200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr17:46079600-46082400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr17:46079600-46082600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr17:46079600-46082800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr17:46079600-46082800	Enhancers	Fetal Kidney	kidney
29	chr17:46079600-46083000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr17:46079600-46083000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr17:46079600-46083600	Enhancers	H1 Cell Line	embryonic stem cell
32	chr17:46079800-46081200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr17:46079800-46081800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr17:46079800-46083600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr17:46080000-46082800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr17:46080200-46081600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr17:46080200-46083000	Enhancers	HUVEC	blood vessel
38	chr17:46080400-46081600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr17:46080400-46081600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr17:46080400-46081600	Flanking Active TSS	Brain Germinal Matrix	brain
41	chr17:46080400-46081800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr17:46080400-46082200	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr17:46080400-46082600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr17:46080400-46083000	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr17:46080400-46083000	Enhancers	NH-A	brain
46	chr17:46080400-46084000	Enhancers	GM12878-XiMat	blood
47	chr17:46080600-46081200	Enhancers	A549	lung
48	chr17:46080600-46082000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr17:46080600-46082000	Weak transcription	Right Atrium	heart
50	chr17:46080600-46082000	Weak transcription	NHEK	skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links