Variant report

Variant	rs4424506
Chromosome Location	chr1:113228397-113228398
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:113214618..113222446-chr1:113227384..113233520,13	K562	blood:
2	chr1:113217617..113223835-chr1:113226384..113230990,8	MCF-7	breast:
3	chr1:113226289..113228900-chr1:113228989..113230932,2	MCF-7	breast:
4	chr1:113214399..113219266-chr1:113227839..113232151,8	MCF-7	breast:
5	chr1:113226102..113228407-chr1:113233460..113235950,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155363	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10399919	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11102490	0.80[YRI][hapmap];0.81[AFR][1000 genomes]
rs11102500	0.81[AFR][1000 genomes]
rs11102519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11102521	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12060267	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12069022	0.82[YRI][hapmap]
rs12069740	0.82[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12073750	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12074157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12077330	0.91[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12080006	0.81[AFR][1000 genomes]
rs12087862	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12091635	0.81[AFR][1000 genomes]
rs12094504	0.82[YRI][hapmap]
rs12095563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17030451	0.84[YRI][hapmap]
rs17030455	0.84[YRI][hapmap]
rs17030475	0.82[YRI][hapmap];0.81[AFR][1000 genomes]
rs17030592	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57573777	1.00[AMR][1000 genomes]
rs58634778	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59053530	1.00[AMR][1000 genomes]
rs61203550	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72982599	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72984503	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72984509	1.00[AMR][1000 genomes]
rs72984515	1.00[AMR][1000 genomes]
rs72986505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72986535	1.00[AMR][1000 genomes]
rs72993072	0.81[AFR][1000 genomes]
rs9919308	0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv13370	chr1:112693290-113246263	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
4	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
5	nsv533295	chr1:113167645-113589588	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113218400-113230200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:113218400-113230400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:113218400-113234200	Weak transcription	Aorta	Aorta
4	chr1:113218600-113230200	Weak transcription	Lung	lung
5	chr1:113218600-113232200	Weak transcription	Ovary	ovary
6	chr1:113218600-113235000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:113218600-113235400	Weak transcription	HSMM	muscle
8	chr1:113218600-113240800	Weak transcription	Right Atrium	heart
9	chr1:113218800-113229200	Weak transcription	Placenta	Placenta
10	chr1:113218800-113230000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:113218800-113230000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr1:113218800-113230200	Weak transcription	Left Ventricle	heart
13	chr1:113218800-113230400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr1:113218800-113230600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:113218800-113232200	Weak transcription	Colonic Mucosa	Colon
16	chr1:113218800-113232400	Weak transcription	Brain Substantia Nigra	brain
17	chr1:113218800-113234200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:113219000-113228600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:113219000-113228800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:113219000-113228800	Weak transcription	Osteobl	bone
21	chr1:113219000-113230200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr1:113219000-113230600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr1:113219000-113231400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr1:113219000-113232000	Weak transcription	Hela-S3	cervix
25	chr1:113219000-113232200	Weak transcription	Small Intestine	intestine
26	chr1:113219000-113232400	Weak transcription	Brain Anterior Caudate	brain
27	chr1:113219000-113234400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr1:113219000-113235400	Weak transcription	A549	lung
29	chr1:113219000-113242200	Weak transcription	NHDF-Ad	bronchial
30	chr1:113219000-113243800	Weak transcription	Fetal Brain Male	brain
31	chr1:113219200-113228600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:113219200-113228600	Weak transcription	NHEK	skin
33	chr1:113219200-113228800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:113219200-113228800	Weak transcription	HMEC	breast
35	chr1:113219200-113230800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr1:113219200-113230800	Weak transcription	NHLF	lung
37	chr1:113219200-113232200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr1:113219200-113232400	Weak transcription	HUVEC	blood vessel
39	chr1:113219400-113228600	Weak transcription	Liver	Liver
40	chr1:113219400-113229000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:113219400-113230200	Weak transcription	Primary T cells from cord blood	blood
42	chr1:113219400-113230200	Weak transcription	Adipose Nuclei	Adipose
43	chr1:113219400-113230400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr1:113219400-113230400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr1:113219400-113230600	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr1:113219400-113231400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr1:113219400-113232600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr1:113219400-113233200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr1:113219600-113229200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:113219600-113229600	Weak transcription	Fetal Thymus	thymus

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