Variant report

Variant	rs1418927
Chromosome Location	chr20:52827293-52827294
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:52826695..52829423-chr20:53117360..53120091,2	MCF-7	breast:
2	chr16:765349..767993-chr20:52824649..52827443,2	MCF-7	breast:
3	chr20:52825632..52827601-chr20:53272621..53275494,2	MCF-7	breast:
4	chr20:52824488..52827444-chr3:64007659..64009363,3	MCF-7	breast:
5	chr20:52826556..52827403-chr8:38759473..38760087,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163636	Chromatin interaction
ENSG00000103260	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11483554	0.92[ASN][1000 genomes]
rs12479602	1.00[ASN][1000 genomes]
rs12624322	0.94[ASN][1000 genomes]
rs12624646	0.90[ASN][1000 genomes]
rs12625916	0.90[CHB][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1418926	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1961795	1.00[ASN][1000 genomes]
rs6023044	1.00[CHB][hapmap];0.89[CHD][hapmap];0.81[GIH][hapmap];0.93[JPT][hapmap];0.97[ASN][1000 genomes]
rs6091836	1.00[CHB][hapmap];0.93[JPT][hapmap];0.97[ASN][1000 genomes]
rs6097867	0.80[ASW][hapmap];0.81[CEU][hapmap];0.91[CHB][hapmap];0.82[AMR][1000 genomes]
rs6097868	0.82[AMR][1000 genomes]
rs62216577	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62216585	0.87[ASN][1000 genomes]
rs62216586	0.82[AMR][1000 genomes]
rs7267971	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7270114	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs73137408	0.93[EUR][1000 genomes];0.97[ASN][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	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases
2	nsv834010	chr20:52759824-52932939	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52825400-52828400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr20:52825400-52829800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr20:52825400-52838800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr20:52825600-52827400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr20:52825600-52833800	Weak transcription	Lung	lung
6	chr20:52825600-52839000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr20:52825800-52831400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr20:52826000-52827400	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr20:52826000-52827400	Enhancers	Ovary	ovary
10	chr20:52826000-52828400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr20:52826000-52828800	Weak transcription	Aorta	Aorta
12	chr20:52826000-52831200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr20:52826000-52831400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr20:52826000-52831400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr20:52826000-52833400	Weak transcription	Esophagus	oesophagus
16	chr20:52826000-52833600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr20:52826000-52837200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr20:52826000-52837800	Weak transcription	Fetal Thymus	thymus
19	chr20:52826000-52838200	Weak transcription	Pancreas	Pancrea
20	chr20:52826000-52840000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr20:52826200-52827400	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr20:52826200-52827600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr20:52826200-52828200	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr20:52826200-52828600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr20:52826200-52828800	Weak transcription	HSMMtube	muscle
26	chr20:52826200-52828800	Weak transcription	HUVEC	blood vessel
27	chr20:52826200-52831000	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr20:52826200-52831200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr20:52826200-52831200	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr20:52826200-52831200	Weak transcription	Primary B cells from cord blood	blood
31	chr20:52826200-52831200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr20:52826200-52831200	Weak transcription	Fetal Intestine Large	intestine
33	chr20:52826200-52831400	Weak transcription	Primary B cells from peripheral blood	blood
34	chr20:52826200-52831400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr20:52826200-52831800	Weak transcription	Fetal Kidney	kidney
36	chr20:52826200-52836000	Weak transcription	Colonic Mucosa	Colon
37	chr20:52826200-52838800	Weak transcription	Gastric	stomach
38	chr20:52826400-52828000	Weak transcription	Hela-S3	cervix
39	chr20:52826400-52828000	Weak transcription	Osteobl	bone
40	chr20:52826400-52828200	Weak transcription	NH-A	brain
41	chr20:52826400-52828800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr20:52826400-52828800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr20:52826400-52829200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr20:52826400-52831200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr20:52826400-52831600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr20:52826400-52831600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr20:52826400-52831800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr20:52826600-52827400	Enhancers	NHLF	lung
49	chr20:52826600-52827800	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr20:52826600-52828000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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