Variant report

Variant	rs11589956
Chromosome Location	chr1:223894735-223894736
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	chr1:223887828..223890332-chr1:223892364..223895816,5	K562	blood:
2	chr1:223893369..223895448-chr1:223913219..223916092,2	K562	blood:
3	chr1:223853261..223855880-chr1:223892396..223895154,2	MCF-7	breast:
4	chr1:223893339..223895149-chr1:223908557..223910552,2	K562	blood:
5	chr1:223894371..223897139-chr1:224032420..224034876,4	MCF-7	breast:
6	chr1:223893260..223897061-chr1:223935259..223940090,6	MCF-7	breast:
7	chr1:223891443..223896975-chr1:223925207..223929791,6	MCF-7	breast:
8	chr1:223894556..223895508-chr10:14920264..14921010,2	HCT-116	colon:
9	chr1:223893121..223894903-chr1:223963309..223965423,3	MCF-7	breast:
10	chr1:223891793..223894789-chr1:224032613..224034264,2	K562	blood:
11	chr1:223693305..223695548-chr1:223894201..223896140,2	MCF-7	breast:
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
ENSG00000272853	Chromatin interaction
ENSG00000162909	Chromatin interaction
ENSG00000203697	Chromatin interaction
ENSG00000152455	Chromatin interaction
ENSG00000143514	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16842040	0.85[EUR][1000 genomes]
rs2154113	0.90[EUR][1000 genomes]
rs2275877	0.90[EUR][1000 genomes]
rs28370012	0.85[EUR][1000 genomes]
rs28370013	0.85[EUR][1000 genomes]
rs7366009	0.90[EUR][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:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223889000-223895000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:223889000-223895400	Enhancers	NHLF	lung
3	chr1:223889000-223900000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:223891000-223895200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr1:223891000-223895400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:223891200-223898600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:223892000-223895000	Enhancers	NHDF-Ad	bronchial
8	chr1:223892000-223897000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr1:223892200-223895000	Enhancers	K562	blood
10	chr1:223892200-223895200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr1:223892200-223895600	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr1:223892200-223895800	Enhancers	Fetal Lung	lung
13	chr1:223892200-223895800	Enhancers	Right Ventricle	heart
14	chr1:223892200-223896000	Enhancers	Left Ventricle	heart
15	chr1:223892200-223899800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:223892400-223895200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:223892400-223895200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:223892400-223895200	Enhancers	HMEC	breast
19	chr1:223892400-223895200	Enhancers	HUVEC	blood vessel
20	chr1:223892400-223895400	Enhancers	Adipose Nuclei	Adipose
21	chr1:223892400-223895800	Enhancers	Rectal Smooth Muscle	rectum
22	chr1:223892400-223896800	Enhancers	Placenta	Placenta
23	chr1:223892400-223897000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:223892400-223897000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr1:223892400-223897000	Enhancers	Fetal Muscle Leg	muscle
26	chr1:223892400-223898400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:223892600-223895000	Enhancers	NHEK	skin
28	chr1:223892600-223895400	Enhancers	Stomach Mucosa	stomach
29	chr1:223892600-223895600	Enhancers	Brain Substantia Nigra	brain
30	chr1:223892600-223895800	Enhancers	Brain Cingulate Gyrus	brain
31	chr1:223892600-223895800	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr1:223892600-223896000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:223892600-223896000	Enhancers	Fetal Stomach	stomach
34	chr1:223892600-223896200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:223892600-223897000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr1:223892800-223895400	Weak transcription	Esophagus	oesophagus
37	chr1:223892800-223896000	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr1:223892800-223896000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:223893000-223895200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:223893000-223895200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:223893000-223895200	Weak transcription	Aorta	Aorta
42	chr1:223893000-223898800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:223893200-223895000	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr1:223893200-223895200	Weak transcription	Fetal Thymus	thymus
45	chr1:223893200-223895200	Weak transcription	Lung	lung
46	chr1:223893200-223895600	Enhancers	Brain Hippocampus Middle	brain
47	chr1:223893200-223895800	Enhancers	Brain Anterior Caudate	brain
48	chr1:223893200-223896200	Enhancers	Right Atrium	heart
49	chr1:223893400-223895200	Enhancers	Muscle Satellite Cultured Cells	--
50	chr1:223893400-223899600	Weak transcription	Fetal Kidney	kidney

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