Variant report

Variant	rs472512
Chromosome Location	chr1:193227537-193227538
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:193224128..193229366-chr1:193231563..193237735,7	K562	blood:
2	chr1:193216941..193221237-chr1:193223372..193228455,4	K562	blood:
3	chr1:193026590..193028368-chr1:193225578..193228087,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDC73-5	chr1:193227477-193228190	NONHSAT008565

Variant related genes	Relation type
ENSG00000116750	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16835200	1.00[AMR][1000 genomes]
rs1832623	0.89[AFR][1000 genomes]
rs2244478	1.00[AMR][1000 genomes]
rs504063	0.89[AFR][1000 genomes]
rs72742123	1.00[AMR][1000 genomes]
rs9427573	1.00[AMR][1000 genomes]
rs9427836	1.00[AMR][1000 genomes]
rs9427837	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832148	chr1:193143945-193292897	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1001174	chr1:193186758-193363372	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1007444	chr1:193207512-193237789	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1002564	chr1:193208937-193240380	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	esv3323564	chr1:193227478-193227716	Strong transcription Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193155800-193243400	Weak transcription	Pancreas	Pancrea
2	chr1:193168000-193228400	Weak transcription	Stomach Mucosa	stomach
3	chr1:193180600-193231200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:193180800-193228200	Weak transcription	Small Intestine	intestine
5	chr1:193181800-193232800	Weak transcription	Colonic Mucosa	Colon
6	chr1:193184400-193227600	Weak transcription	HMEC	breast
7	chr1:193187000-193245200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr1:193201000-193229600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:193202000-193228800	Weak transcription	Brain Angular Gyrus	brain
10	chr1:193210800-193228200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:193210800-193229200	Weak transcription	Gastric	stomach
12	chr1:193211000-193230600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr1:193211400-193233800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr1:193211600-193233400	Weak transcription	Fetal Stomach	stomach
15	chr1:193211600-193235000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr1:193216400-193238800	Weak transcription	Hela-S3	cervix
17	chr1:193217000-193229200	Weak transcription	NHLF	lung
18	chr1:193217000-193231800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr1:193217000-193244600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr1:193217200-193240200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:193217400-193227800	Weak transcription	Aorta	Aorta
22	chr1:193217400-193228600	Weak transcription	Ovary	ovary
23	chr1:193217400-193232000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:193217400-193232400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr1:193217600-193235200	Weak transcription	NHEK	skin
26	chr1:193217600-193235400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr1:193218000-193233400	Weak transcription	Fetal Muscle Leg	muscle
28	chr1:193218000-193239400	Weak transcription	Esophagus	oesophagus
29	chr1:193218200-193227600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:193218200-193229200	Strong transcription	HSMM	muscle
31	chr1:193218200-193235000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr1:193218200-193236800	Weak transcription	A549	lung
33	chr1:193218400-193227800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:193218400-193230800	Weak transcription	Thymus	Thymus
35	chr1:193218400-193233600	Weak transcription	Fetal Intestine Large	intestine
36	chr1:193218400-193233600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr1:193218400-193235600	Weak transcription	Placenta	Placenta
38	chr1:193218400-193239200	Weak transcription	Osteobl	bone
39	chr1:193218400-193239400	Weak transcription	Left Ventricle	heart
40	chr1:193218600-193227600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr1:193218600-193229000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr1:193218600-193229200	Weak transcription	HSMMtube	muscle
43	chr1:193218600-193231400	Weak transcription	Brain Hippocampus Middle	brain
44	chr1:193218600-193237600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr1:193218600-193258200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:193218800-193238800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr1:193219000-193227600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr1:193219000-193227800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr1:193219000-193230600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr1:193219000-193232800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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