Variant report

Variant	rs508370
Chromosome Location	chr11:34488095-34488096
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:34393782..34397128-chr11:34486521..34490392,3	K562	blood:
2	chr11:34460644..34463318-chr11:34487662..34489990,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1001179	0.91[ASN][1000 genomes]
rs11032718	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11032722	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11032723	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11032724	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11032726	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11032728	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11604331	0.91[ASN][1000 genomes]
rs12790145	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12797274	0.81[ASN][1000 genomes]
rs1408041	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1535719	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17269903	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17269931	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2146962	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2231821	0.81[ASN][1000 genomes]
rs2231828	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2420386	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34234992	0.81[ASN][1000 genomes]
rs34366473	0.81[ASN][1000 genomes]
rs34901344	0.81[ASN][1000 genomes]
rs35495760	0.81[ASN][1000 genomes]
rs475043	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs494024	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs499406	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs511895	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs524167	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs533425	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55898107	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs560807	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs737254	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897205	chr11:34248229-34507213	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv897209	chr11:34309519-34548906	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv832114	chr11:34424428-34607851	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs508370	CAT	Cis_1M	lymphoblastoid	RTeQTL
rs508370	CAT	cis	Whole Blood	GTEx

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34470800-34494200	Strong transcription	Brain Germinal Matrix	brain
2	chr11:34470800-34495600	Strong transcription	Stomach Smooth Muscle	stomach
3	chr11:34471000-34494000	Strong transcription	Rectal Mucosa Donor 29	rectum
4	chr11:34471400-34494000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:34471400-34494600	Strong transcription	Placenta	Placenta
6	chr11:34471400-34495000	Strong transcription	Duodenum Smooth Muscle	Duodenum
7	chr11:34471400-34496400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:34471600-34495200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr11:34471600-34496800	Strong transcription	Duodenum Mucosa	Duodenum
10	chr11:34474000-34496800	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr11:34476200-34495200	Strong transcription	Skeletal Muscle Female	skeletal muscle
12	chr11:34477200-34495200	Strong transcription	Skeletal Muscle Male	skeletal muscle
13	chr11:34477800-34488400	Strong transcription	Brain Anterior Caudate	brain
14	chr11:34478200-34492800	Strong transcription	Rectal Smooth Muscle	rectum
15	chr11:34481800-34488200	Strong transcription	Left Ventricle	heart
16	chr11:34482400-34494200	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr11:34482400-34495000	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr11:34482600-34488800	Strong transcription	Muscle Satellite Cultured Cells	--
19	chr11:34483000-34489800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:34483400-34501600	Weak transcription	HMEC	breast
21	chr11:34484600-34489200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr11:34484600-34491400	Strong transcription	Fetal Brain Male	brain
23	chr11:34485000-34489200	ZNF genes & repeats	Primary B cells from cord blood	blood
24	chr11:34485000-34489400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
25	chr11:34485000-34489400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:34485200-34489600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:34485400-34490400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:34485400-34490600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:34485600-34488400	Strong transcription	Fetal Kidney	kidney
30	chr11:34486400-34488200	Strong transcription	HepG2	liver
31	chr11:34486400-34489200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
32	chr11:34486400-34489400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
33	chr11:34486600-34488200	Strong transcription	Adipose Nuclei	Adipose
34	chr11:34486600-34489000	Strong transcription	Liver	Liver
35	chr11:34486600-34489800	Weak transcription	Aorta	Aorta
36	chr11:34486600-34489800	Weak transcription	Gastric	stomach
37	chr11:34486600-34490400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr11:34486800-34489800	Weak transcription	Fetal Stomach	stomach
39	chr11:34486800-34489800	Weak transcription	HUVEC	blood vessel
40	chr11:34486800-34490000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr11:34486800-34490200	ZNF genes & repeats	Fetal Brain Female	brain
42	chr11:34487000-34489800	Weak transcription	Pancreas	Pancrea
43	chr11:34487000-34489800	Weak transcription	Thymus	Thymus
44	chr11:34487000-34490200	Weak transcription	Esophagus	oesophagus
45	chr11:34487200-34488600	ZNF genes & repeats	NHDF-Ad	bronchial
46	chr11:34487200-34488800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
47	chr11:34487200-34489200	ZNF genes & repeats	K562	blood
48	chr11:34487200-34489400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
49	chr11:34487200-34489800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:34487200-34490000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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