Variant report

Variant	rs72749512
Chromosome Location	chr1:223893624-223893625
allele	C/T
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:223891679..223894044-chr1:223943117..223944759,2	MCF-7	breast:
2	chr1:223887828..223890332-chr1:223892364..223895816,5	K562	blood:
3	chr1:223893369..223895448-chr1:223913219..223916092,2	K562	blood:
4	chr1:223853261..223855880-chr1:223892396..223895154,2	MCF-7	breast:
5	chr1:223893339..223895149-chr1:223908557..223910552,2	K562	blood:
6	chr1:223893260..223897061-chr1:223935259..223940090,6	MCF-7	breast:
7	chr1:223891443..223896975-chr1:223925207..223929791,6	MCF-7	breast:
8	chr1:223893121..223894903-chr1:223963309..223965423,3	MCF-7	breast:
9	chr1:223891592..223893967-chr1:223903233..223904840,2	K562	blood:
10	chr1:223891793..223894789-chr1:224032613..224034264,2	K562	blood:
11	chr1:223891739..223894033-chr1:224033378..224035104,2	K562	blood:
12	chr1:223885961..223896993-chr1:223898177..223910405,32	MCF-7	breast:
13	chr1:223893459..223896572-chr1:223897626..223901997,6	K562	blood:
14	chr1:223892791..223896772-chr1:223919510..223922888,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143514	Chromatin interaction
ENSG00000162909	Chromatin interaction
ENSG00000203697	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12128409	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12130788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12130866	1.00[AFR][1000 genomes]
rs12132879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12137025	0.88[ASN][1000 genomes]
rs12137149	0.83[ASN][1000 genomes]
rs1419310	0.94[ASN][1000 genomes]
rs28370004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28370163	1.00[AFR][1000 genomes]
rs55854109	0.94[ASN][1000 genomes]
rs56017959	0.88[ASN][1000 genomes]
rs72747938	1.00[AFR][1000 genomes]
rs72747945	1.00[AFR][1000 genomes]
rs72747968	0.81[ASN][1000 genomes]
rs72747974	0.88[ASN][1000 genomes]
rs72747975	0.88[ASN][1000 genomes]
rs72749511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72749513	1.00[AFR][1000 genomes]
rs72749554	1.00[AFR][1000 genomes]
rs72749591	1.00[AFR][1000 genomes]
rs7522432	0.94[ASN][1000 genomes]
rs7552613	0.94[ASN][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	nsv832681	chr1:223698048-224002691	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1007380	chr1:223834380-224042190	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv535310	chr1:223834380-224042190	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv873213	chr1:223885843-223924236	Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223886400-223894200	Weak transcription	Brain Angular Gyrus	brain
2	chr1:223889000-223894000	Weak transcription	Pancreas	Pancrea
3	chr1:223889000-223895000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:223889000-223895400	Enhancers	NHLF	lung
5	chr1:223889000-223900000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:223889400-223894000	Weak transcription	Fetal Intestine Small	intestine
7	chr1:223891000-223895200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr1:223891000-223895400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr1:223891200-223898600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:223892000-223894000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:223892000-223894000	Enhancers	NH-A	brain
12	chr1:223892000-223895000	Enhancers	NHDF-Ad	bronchial
13	chr1:223892000-223897000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:223892200-223894000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr1:223892200-223894200	Enhancers	HSMMtube	muscle
16	chr1:223892200-223894600	Enhancers	Ovary	ovary
17	chr1:223892200-223895000	Enhancers	K562	blood
18	chr1:223892200-223895200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr1:223892200-223895600	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr1:223892200-223895800	Enhancers	Fetal Lung	lung
21	chr1:223892200-223895800	Enhancers	Right Ventricle	heart
22	chr1:223892200-223896000	Enhancers	Left Ventricle	heart
23	chr1:223892200-223899800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:223892400-223894600	Enhancers	Fetal Brain Male	brain
25	chr1:223892400-223895200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:223892400-223895200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:223892400-223895200	Enhancers	HMEC	breast
28	chr1:223892400-223895200	Enhancers	HUVEC	blood vessel
29	chr1:223892400-223895400	Enhancers	Adipose Nuclei	Adipose
30	chr1:223892400-223895800	Enhancers	Rectal Smooth Muscle	rectum
31	chr1:223892400-223896800	Enhancers	Placenta	Placenta
32	chr1:223892400-223897000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:223892400-223897000	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr1:223892400-223897000	Enhancers	Fetal Muscle Leg	muscle
35	chr1:223892400-223898400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:223892600-223894600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:223892600-223894600	Enhancers	Brain Germinal Matrix	brain
38	chr1:223892600-223895000	Enhancers	NHEK	skin
39	chr1:223892600-223895400	Enhancers	Stomach Mucosa	stomach
40	chr1:223892600-223895600	Enhancers	Brain Substantia Nigra	brain
41	chr1:223892600-223895800	Enhancers	Brain Cingulate Gyrus	brain
42	chr1:223892600-223895800	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr1:223892600-223896000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:223892600-223896000	Enhancers	Fetal Stomach	stomach
45	chr1:223892600-223896200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:223892600-223897000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr1:223892800-223893800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:223892800-223894000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:223892800-223894400	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr1:223892800-223894600	Flanking Active TSS	A549	lung

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