Variant report

Variant	rs1281422
Chromosome Location	chr1:179779054-179779055
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:179675150..179675901-chr1:179778694..179779521,4	MCF-7	breast:
2	chr1:179672208..179674210-chr1:179778316..179781099,2	MCF-7	breast:
3	chr1:179676547..179677257-chr1:179778692..179779510,3	K562	blood:
4	chr1:179674246..179676441-chr1:179778955..179781367,2	MCF-7	breast:
5	chr1:179220618..179221536-chr1:179778672..179779568,2	MCF-7	breast:
6	chr1:179763583..179764303-chr1:179778563..179779345,2	K562	blood:
7	chr1:179675454..179676124-chr1:179778665..179779603,5	K562	blood:
8	chr1:179775866..179779204-chr1:179781630..179784471,3	MCF-7	breast:
9	chr1:179675218..179676600-chr1:179778027..179780620,16	MCF-7	breast:

No data

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1148824	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2236589	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2647226	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2777920	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794589	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4320747	0.80[ASN][1000 genomes]
rs6658638	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6684425	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7552673	0.87[ASN][1000 genomes]
rs904272	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009961	chr1:179714247-179790110	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1011407	chr1:179733193-179799430	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv520418	chr1:179761601-179794602	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv519307	chr1:179766086-179795505	Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179774600-179779600	Enhancers	Placenta	Placenta
2	chr1:179776200-179779200	Enhancers	Fetal Intestine Small	intestine
3	chr1:179777000-179781600	Enhancers	Fetal Thymus	thymus
4	chr1:179777200-179779200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:179777200-179783600	Weak transcription	Right Atrium	heart
6	chr1:179778400-179780000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr1:179778600-179779200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:179778600-179779200	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr1:179778600-179779200	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr1:179778600-179779200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr1:179778600-179779200	Enhancers	Fetal Intestine Large	intestine
12	chr1:179778600-179779800	Enhancers	Fetal Muscle Trunk	muscle
13	chr1:179778600-179779800	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr1:179778800-179779200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr1:179778800-179779200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:179778800-179779200	Enhancers	Primary B cells from peripheral blood	blood
17	chr1:179778800-179779200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:179778800-179779200	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr1:179778800-179779200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr1:179778800-179779200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:179778800-179779200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:179778800-179779200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr1:179778800-179779200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:179778800-179779200	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr1:179778800-179779200	Enhancers	Adipose Nuclei	Adipose
26	chr1:179778800-179779200	Enhancers	Brain Angular Gyrus	brain
27	chr1:179778800-179779200	Flanking Active TSS	Brain Anterior Caudate	brain
28	chr1:179778800-179779200	Flanking Active TSS	Brain Cingulate Gyrus	brain
29	chr1:179778800-179779200	Enhancers	Brain Hippocampus Middle	brain
30	chr1:179778800-179779200	Enhancers	Brain Substantia Nigra	brain
31	chr1:179778800-179779200	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr1:179778800-179779200	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr1:179778800-179779200	Enhancers	Stomach Mucosa	stomach
34	chr1:179778800-179779200	Bivalent Enhancer	Dnd41	blood
35	chr1:179778800-179779400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
36	chr1:179778800-179779800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:179779000-179779200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:179779000-179779200	Enhancers	Liver	Liver
39	chr1:179779000-179779200	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr1:179779000-179779200	Enhancers	Fetal Brain Female	brain
41	chr1:179779000-179779200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr1:179779000-179779200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
43	chr1:179779000-179779200	Bivalent Enhancer	NH-A	brain
44	chr1:179779000-179779200	Enhancers	NHEK	skin
45	chr1:179779000-179779800	Bivalent Enhancer	Fetal Stomach	stomach
46	chr1:179779000-179779800	Enhancers	HMEC	breast
47	chr1:179779000-179781200	Weak transcription	Brain Germinal Matrix	brain
48	chr1:179779000-179781600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr1:179779000-179783400	Weak transcription	Esophagus	oesophagus

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