Variant report

Variant	rs4899275
Chromosome Location	chr14:69437558-69437559
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:69402982..69422523-chr14:69436263..69448017,46	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258531	Chromatin interaction
ENSG00000072110	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10151419	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11620980	1.00[ASN][1000 genomes]
rs11623192	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1275194	0.95[CEU][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1983700	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2012752	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs242091	1.00[ASN][1000 genomes]
rs242096	1.00[ASN][1000 genomes]
rs242097	0.95[CEU][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs242099	1.00[ASN][1000 genomes]
rs242101	0.82[AMR][1000 genomes]
rs242102	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs242104	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs242109	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs398504	1.00[ASN][1000 genomes]
rs4083451	1.00[ASN][1000 genomes]
rs436106	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902681	1.00[ASN][1000 genomes]
rs4902683	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56060157	1.00[ASN][1000 genomes]
rs61981591	1.00[ASN][1000 genomes]
rs927064	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69411200-69442600	Weak transcription	Fetal Brain Female	brain
2	chr14:69420200-69441200	Genic enhancers	NHEK	skin
3	chr14:69420600-69441600	Genic enhancers	NH-A	brain
4	chr14:69421200-69442200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr14:69427600-69437600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:69427600-69437600	Enhancers	Left Ventricle	heart
7	chr14:69428400-69442200	Genic enhancers	Fetal Stomach	stomach
8	chr14:69428600-69439800	Genic enhancers	Fetal Intestine Small	intestine
9	chr14:69428600-69443400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:69429200-69439600	Enhancers	Fetal Thymus	thymus
11	chr14:69429400-69443800	Weak transcription	Brain Germinal Matrix	brain
12	chr14:69429800-69441400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr14:69429800-69442400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr14:69430000-69437800	Enhancers	Fetal Intestine Large	intestine
15	chr14:69430000-69438000	Enhancers	Liver	Liver
16	chr14:69430000-69440400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:69430000-69441600	Genic enhancers	HSMM	muscle
18	chr14:69430200-69438800	Enhancers	Fetal Heart	heart
19	chr14:69430600-69437800	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr14:69430800-69437600	Enhancers	Right Atrium	heart
21	chr14:69430800-69438200	Enhancers	Pancreas	Pancrea
22	chr14:69430800-69439000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr14:69431000-69438200	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr14:69431800-69438400	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr14:69431800-69439200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr14:69431800-69444000	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
27	chr14:69432000-69442400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr14:69432400-69437600	Weak transcription	Hela-S3	cervix
29	chr14:69432400-69441400	Genic enhancers	HepG2	liver
30	chr14:69432600-69438200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:69432600-69442200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr14:69432600-69443000	Weak transcription	Brain Substantia Nigra	brain
33	chr14:69433000-69437600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr14:69433200-69437600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr14:69433200-69437600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr14:69433200-69438800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr14:69433200-69438800	Enhancers	Spleen	Spleen
38	chr14:69433200-69442000	Genic enhancers	Muscle Satellite Cultured Cells	--
39	chr14:69433400-69437600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr14:69433800-69437800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr14:69434200-69437600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr14:69434200-69441600	Weak transcription	Ovary	ovary
43	chr14:69434400-69442400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr14:69434600-69440400	Weak transcription	K562	blood
45	chr14:69434800-69439200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr14:69435200-69437600	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr14:69435200-69439400	Enhancers	Primary T cells fromperipheralblood	blood
48	chr14:69435400-69437800	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr14:69435400-69438000	Enhancers	H1 Cell Line	embryonic stem cell
50	chr14:69435600-69437800	Enhancers	Fetal Lung	lung

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