Variant report

Variant	rs10133699
Chromosome Location	chr14:68189619-68189620
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68160775..68162955-chr14:68189017..68191227,2	MCF-7	breast:
2	chr14:68189219..68191314-chr14:68202180..68203720,2	MCF-7	breast:
3	chr14:68189527..68192099-chr14:68196390..68198301,2	K562	blood:
4	chr14:68186603..68190707-chr14:68192396..68197182,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000072042	Chromatin interaction
ENSG00000139988	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10130204	0.98[AFR][1000 genomes]
rs10131022	1.00[EUR][1000 genomes]
rs10134763	1.00[EUR][1000 genomes]
rs10135963	1.00[EUR][1000 genomes]
rs10136738	1.00[EUR][1000 genomes]
rs10139064	1.00[EUR][1000 genomes]
rs10139482	1.00[EUR][1000 genomes]
rs10142186	1.00[EUR][1000 genomes]
rs10145923	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10145933	1.00[EUR][1000 genomes]
rs10146242	1.00[EUR][1000 genomes]
rs10147052	1.00[EUR][1000 genomes]
rs10147145	1.00[EUR][1000 genomes]
rs10150532	1.00[EUR][1000 genomes]
rs17104527	1.00[EUR][1000 genomes]
rs17104547	1.00[EUR][1000 genomes]
rs17104587	1.00[EUR][1000 genomes]
rs17104591	1.00[EUR][1000 genomes]
rs17104697	1.00[EUR][1000 genomes]
rs2234512	1.00[EUR][1000 genomes]
rs2295109	1.00[EUR][1000 genomes]
rs2295110	1.00[EUR][1000 genomes]
rs28451245	1.00[EUR][1000 genomes]
rs28556682	1.00[EUR][1000 genomes]
rs28780734	1.00[EUR][1000 genomes]
rs28784083	1.00[EUR][1000 genomes]
rs28817410	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28844401	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34057001	1.00[EUR][1000 genomes]
rs35010674	1.00[EUR][1000 genomes]
rs4272963	1.00[EUR][1000 genomes]
rs4899218	1.00[EUR][1000 genomes]
rs4902492	1.00[EUR][1000 genomes]
rs4902510	1.00[EUR][1000 genomes]
rs4902516	1.00[EUR][1000 genomes]
rs4902522	1.00[EUR][1000 genomes]
rs57023353	1.00[EUR][1000 genomes]
rs57348219	1.00[EUR][1000 genomes]
rs58112975	1.00[EUR][1000 genomes]
rs58952057	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59945885	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7143223	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7143483	1.00[EUR][1000 genomes]
rs7144698	1.00[EUR][1000 genomes]
rs7145385	1.00[EUR][1000 genomes]
rs7149669	1.00[EUR][1000 genomes]
rs7156195	1.00[EUR][1000 genomes]
rs7157699	1.00[EUR][1000 genomes]
rs7359109	1.00[EUR][1000 genomes]
rs7765	1.00[EUR][1000 genomes]
rs8007916	1.00[EUR][1000 genomes]
rs8009762	1.00[EUR][1000 genomes]
rs8010136	1.00[EUR][1000 genomes]
rs8015609	1.00[EUR][1000 genomes]
rs8018161	1.00[EUR][1000 genomes]
rs8018528	1.00[EUR][1000 genomes]
rs8023116	1.00[EUR][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	nsv902068	chr14:68083133-68204876	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats 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	38 gene(s)	inside rSNPs	diseases
4	nsv521832	chr14:68141009-68204876	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68188800-68189800	Enhancers	Liver	Liver
2	chr14:68188800-68189800	Enhancers	Fetal Heart	heart
3	chr14:68188800-68189800	Enhancers	Fetal Muscle Trunk	muscle
4	chr14:68188800-68189800	Enhancers	Fetal Muscle Leg	muscle
5	chr14:68188800-68190200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr14:68189000-68189800	Enhancers	Primary hematopoietic stem cells	blood
7	chr14:68189000-68189800	Enhancers	Adipose Nuclei	Adipose
8	chr14:68189000-68189800	Enhancers	Placenta	Placenta
9	chr14:68189000-68218800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr14:68189200-68189800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
11	chr14:68189200-68189800	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr14:68189200-68189800	Enhancers	Gastric	stomach
13	chr14:68189200-68189800	Enhancers	Stomach Mucosa	stomach
14	chr14:68189200-68189800	Flanking Active TSS	HepG2	liver
15	chr14:68189200-68190000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr14:68189200-68190000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr14:68189200-68190000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
18	chr14:68189400-68189800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
19	chr14:68189400-68189800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
20	chr14:68189400-68189800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
21	chr14:68189400-68189800	Enhancers	Colon Smooth Muscle	Colon
22	chr14:68189400-68189800	Bivalent Enhancer	Fetal Stomach	stomach
23	chr14:68189400-68189800	Enhancers	Right Ventricle	heart
24	chr14:68189400-68200800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr14:68189600-68189800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr14:68189600-68189800	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
27	chr14:68189600-68189800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr14:68189600-68189800	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr14:68189600-68191200	Weak transcription	Esophagus	oesophagus
30	chr14:68189600-68192000	Weak transcription	Pancreas	Pancrea
31	chr14:68189600-68195000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr14:68189600-68196000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr14:68189600-68196400	Weak transcription	Brain Anterior Caudate	brain

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