Variant report

Variant	rs5744156
Chromosome Location	chr1:223307023-223307024
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:223306753..223307263-chr1:223871830..223872497,2	MCF-7	breast:
2	chr1:223296767..223297559-chr1:223306916..223307610,2	MCF-7	breast:
3	chr1:223301112..223303740-chr1:223305337..223308068,3	MCF-7	breast:
4	chr1:223305860..223308306-chr1:223535536..223539484,5	MCF-7	breast:
5	chr1:223306692..223307708-chr1:223871336..223872510,8	K562	blood:
6	chr1:223306168..223308719-chr1:223316086..223318176,3	MCF-7	breast:
7	chr1:223306279..223308015-chr1:223870177..223873121,2	MCF-7	breast:
8	chr1:223306782..223307651-chr1:223418331..223418857,2	K562	blood:
9	chr1:223297874..223300062-chr1:223305368..223307406,3	MCF-7	breast:
10	chr1:223305699..223307476-chr1:223314416..223316383,2	K562	blood:
11	chr1:223305679..223307985-chr1:223321092..223323680,2	K562	blood:
12	chr1:223306702..223307410-chr1:223536937..223537522,2	MCF-7	breast:
13	chr1:223305268..223307186-chr1:223856777..223859694,2	K562	blood:
14	chr1:223305214..223307965-chr1:223314380..223316751,3	K562	blood:
15	chr1:223306774..223307641-chr1:223315920..223317157,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000236846	Chromatin interaction
ENSG00000143502	Chromatin interaction
ENSG00000187554	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1341985	0.90[EUR][1000 genomes]
rs1418143	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1418144	0.90[EUR][1000 genomes]
rs1418145	0.81[ASN][1000 genomes]
rs1418146	0.81[ASN][1000 genomes]
rs2241095	0.87[ASN][1000 genomes]
rs34088950	0.90[EUR][1000 genomes]
rs45501199	0.87[ASN][1000 genomes]
rs5744104	0.90[EUR][1000 genomes]
rs5744106	0.90[EUR][1000 genomes]
rs5744107	0.90[EUR][1000 genomes]
rs5744135	0.87[ASN][1000 genomes]
rs5744138	0.87[ASN][1000 genomes]
rs5744139	0.87[ASN][1000 genomes]
rs5744140	0.87[ASN][1000 genomes]
rs5744143	0.87[ASN][1000 genomes]
rs5744144	1.00[EUR][1000 genomes]
rs5744145	0.87[ASN][1000 genomes]
rs5744147	0.87[ASN][1000 genomes]
rs5744149	0.87[ASN][1000 genomes]
rs5744150	1.00[EUR][1000 genomes]
rs72743840	0.90[EUR][1000 genomes]
rs72743847	0.90[EUR][1000 genomes]
rs72743860	0.90[EUR][1000 genomes]
rs72743869	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72743871	0.90[EUR][1000 genomes]
rs72743874	0.90[EUR][1000 genomes]
rs72748469	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72748471	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72748472	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72748475	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72748482	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs763389	0.85[ASN][1000 genomes]
rs988779	0.90[EUR][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	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1014896	chr1:223070446-223327185	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv832659	chr1:223294767-223438487	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223303000-223307400	Weak transcription	Left Ventricle	heart
2	chr1:223303200-223314600	Weak transcription	Spleen	Spleen
3	chr1:223306400-223307200	Enhancers	Fetal Intestine Large	intestine
4	chr1:223306600-223307200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
5	chr1:223306600-223307200	Flanking Active TSS	Duodenum Mucosa	Duodenum
6	chr1:223306600-223307200	Bivalent Enhancer	Fetal Intestine Small	intestine
7	chr1:223306600-223307200	Enhancers	Fetal Muscle Trunk	muscle
8	chr1:223306600-223307200	Enhancers	Placenta	Placenta
9	chr1:223306600-223307800	Enhancers	Liver	Liver
10	chr1:223306600-223308800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr1:223306600-223308800	Enhancers	Placenta Amnion	Placenta Amnion
12	chr1:223306600-223310000	Enhancers	Lung	lung
13	chr1:223306800-223307200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:223306800-223307200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
15	chr1:223306800-223307200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:223306800-223307200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:223306800-223307200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr1:223306800-223307200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr1:223306800-223307200	Bivalent Enhancer	Primary B cells from cord blood	blood
20	chr1:223306800-223307200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
21	chr1:223306800-223307200	Enhancers	Primary T cells from cord blood	blood
22	chr1:223306800-223307200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
23	chr1:223306800-223307200	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr1:223306800-223307200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr1:223306800-223307200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:223306800-223307200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:223306800-223307200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:223306800-223307200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:223306800-223307200	Flanking Active TSS	Brain Anterior Caudate	brain
30	chr1:223306800-223307200	Flanking Active TSS	Brain Cingulate Gyrus	brain
31	chr1:223306800-223307200	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr1:223306800-223307200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:223306800-223307200	Flanking Active TSS	Colonic Mucosa	Colon
34	chr1:223306800-223307200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr1:223306800-223307200	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
36	chr1:223306800-223307200	Bivalent Enhancer	Fetal Lung	lung
37	chr1:223306800-223307200	Bivalent Enhancer	Fetal Muscle Leg	muscle
38	chr1:223306800-223307200	Bivalent Enhancer	Fetal Thymus	thymus
39	chr1:223306800-223307200	Enhancers	Ovary	ovary
40	chr1:223306800-223307200	Enhancers	Psoas Muscle	Psoas
41	chr1:223306800-223307200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
42	chr1:223306800-223307200	Enhancers	Right Atrium	heart
43	chr1:223306800-223307200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr1:223306800-223307200	Enhancers	Stomach Mucosa	stomach
45	chr1:223306800-223307200	Bivalent Enhancer	Dnd41	blood
46	chr1:223306800-223307200	Enhancers	HMEC	breast
47	chr1:223306800-223307200	Bivalent Enhancer	HUVEC	blood vessel
48	chr1:223306800-223307200	Bivalent Enhancer	NHDF-Ad	bronchial
49	chr1:223306800-223307400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr1:223306800-223307400	Bivalent/Poised TSS	Fetal Brain Female	brain

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