Variant report

Variant	rs322812
Chromosome Location	chr7:127744787-127744788
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:35849732..35850242-chr7:127744018..127744801,2	NB4	blood:
2	chr7:127735968..127738181-chr7:127743649..127746341,2	K562	blood:
3	chr7:127735954..127738632-chr7:127744138..127745884,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000161326	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs178733	0.81[CEU][hapmap];0.94[CHB][hapmap];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs184430	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs322738	0.83[ASN][1000 genomes]
rs322752	0.80[ASN][1000 genomes]
rs322756	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs322760	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs322761	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs322762	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs322765	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs322766	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs322768	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs322770	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs322771	0.88[ASN][1000 genomes]
rs322775	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs322778	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs322780	0.94[ASN][1000 genomes]
rs322782	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs322783	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs322784	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs322785	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs322786	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs322787	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs322790	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs322791	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs322806	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs322807	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs322808	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs322809	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs322811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs322815	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs322818	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs5028619	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6467159	0.88[LWK][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes]
rs6467160	0.82[AFR][1000 genomes]
rs6467161	0.82[YRI][hapmap]
rs6467163	0.82[AFR][1000 genomes]
rs6960004	0.94[CHB][hapmap];1.00[CHD][hapmap];0.88[JPT][hapmap];0.97[ASN][1000 genomes]
rs759710	0.82[AFR][1000 genomes]
rs7792971	0.88[LWK][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes]
rs7793071	0.81[AFR][1000 genomes]
rs7803045	0.81[AFR][1000 genomes]
rs7803473	0.82[AFR][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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs322812	EEF2K	trans	cerebellum	SCAN
rs322812	CCDC136	cis	parietal	SCAN

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127734400-127748200	Weak transcription	Dnd41	blood
2	chr7:127743400-127744800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
3	chr7:127743400-127744800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:127743400-127744800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:127743400-127745000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr7:127743400-127745000	Active TSS	Primary T cells from cord blood	blood
7	chr7:127743600-127744800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
8	chr7:127743600-127744800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
9	chr7:127743600-127744800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr7:127743600-127744800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:127743600-127744800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr7:127743600-127744800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:127743600-127744800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
14	chr7:127743600-127744800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
15	chr7:127743600-127744800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr7:127743600-127744800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr7:127743600-127744800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
18	chr7:127743600-127744800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
19	chr7:127743600-127744800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
20	chr7:127743600-127744800	Enhancers	Liver	Liver
21	chr7:127743600-127744800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
22	chr7:127743600-127744800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
23	chr7:127743600-127744800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
24	chr7:127743600-127745000	Bivalent Enhancer	Fetal Brain Male	brain
25	chr7:127743800-127744800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
26	chr7:127743800-127744800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr7:127743800-127744800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:127743800-127744800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr7:127743800-127744800	Bivalent Enhancer	Fetal Lung	lung
30	chr7:127743800-127744800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
31	chr7:127743800-127744800	Active TSS	Small Intestine	intestine
32	chr7:127743800-127745000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
33	chr7:127743800-127745000	Flanking Active TSS	Primary B cells from cord blood	blood
34	chr7:127744000-127744800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:127744000-127744800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr7:127744000-127744800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr7:127744000-127744800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
38	chr7:127744000-127744800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
39	chr7:127744000-127744800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
40	chr7:127744000-127744800	Bivalent Enhancer	Colon Smooth Muscle	Colon
41	chr7:127744000-127744800	Active TSS	A549	lung
42	chr7:127744200-127744800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr7:127744200-127744800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
44	chr7:127744200-127744800	Bivalent/Poised TSS	HepG2	liver
45	chr7:127744400-127744800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
46	chr7:127744400-127744800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:127744400-127744800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr7:127744400-127744800	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
49	chr7:127744400-127744800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr7:127744400-127744800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum

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