Variant report

Variant	rs6697581
Chromosome Location	chr1:170017441-170017442
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10127867	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12023275	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12563479	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12724797	0.85[EUR][1000 genomes]
rs1330372	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1361088	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16862933	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1765696	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2050651	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2152831	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2273458	0.91[EUR][1000 genomes]
rs33943686	0.91[EUR][1000 genomes]
rs4141917	0.85[EUR][1000 genomes]
rs4656203	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs543894	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs574211	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6673712	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7418815	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7517490	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs824668	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9426889	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][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	nsv1014033	chr1:169968488-170453021	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535200	chr1:169968488-170453021	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	esv2063548	chr1:170017442-170017443	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6697581	C1orf112	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169952000-170018000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr1:169952400-170043000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr1:169968800-170020200	Weak transcription	Brain Angular Gyrus	brain
4	chr1:169969600-170017800	Weak transcription	Esophagus	oesophagus
5	chr1:169979400-170018000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr1:169982400-170020600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:169983800-170017600	Weak transcription	Spleen	Spleen
8	chr1:169984600-170020800	Weak transcription	Gastric	stomach
9	chr1:169984800-170027600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr1:169985200-170020400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr1:169986400-170019800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:169988000-170017600	Weak transcription	Fetal Lung	lung
13	chr1:169989600-170019800	Weak transcription	Right Ventricle	heart
14	chr1:169993600-170021400	Weak transcription	Fetal Brain Male	brain
15	chr1:169995400-170017800	Weak transcription	Pancreas	Pancrea
16	chr1:169997800-170017600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:169997800-170018600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:169999800-170017600	Weak transcription	Colonic Mucosa	Colon
19	chr1:169999800-170036600	Weak transcription	Small Intestine	intestine
20	chr1:170002800-170036400	Weak transcription	NHDF-Ad	bronchial
21	chr1:170003000-170017800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:170003200-170017600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:170003600-170027600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:170005000-170017800	Weak transcription	Fetal Intestine Small	intestine
25	chr1:170005000-170020200	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr1:170005200-170025200	Weak transcription	Brain Substantia Nigra	brain
27	chr1:170005600-170019400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr1:170006000-170018000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:170007000-170026200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:170007200-170017800	Weak transcription	Fetal Brain Female	brain
31	chr1:170007600-170031800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:170008200-170032200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:170008400-170017800	Weak transcription	Liver	Liver
34	chr1:170008600-170020400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:170008800-170031800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr1:170009600-170018200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:170009600-170019600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:170009600-170019800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr1:170010200-170019000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:170010600-170018800	Strong transcription	Dnd41	blood
41	chr1:170010600-170019400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:170011000-170018000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:170011200-170017600	Weak transcription	Fetal Stomach	stomach
44	chr1:170011200-170017800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr1:170011200-170018000	Weak transcription	Thymus	Thymus
46	chr1:170011200-170018400	Weak transcription	Fetal Thymus	thymus
47	chr1:170011600-170017600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr1:170011600-170018000	Weak transcription	Colon Smooth Muscle	Colon
49	chr1:170012000-170018600	Weak transcription	Primary hematopoietic stem cells	blood
50	chr1:170012200-170027000	Weak transcription	Pancreatic Islets	Pancreatic Islet

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links