Variant report

Variant	rs2268975
Chromosome Location	chr14:69419976-69419977
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69402982..69422523-chr14:69436263..69448017,46	MCF-7	breast:
2	chr14:69419790..69422390-chr14:69443339..69445972,2	K562	blood:
3	chr14:69417161..69420849-chr14:69420995..69424800,5	MCF-7	breast:
4	chr14:69404437..69408069-chr14:69415844..69420142,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259062	Chromatin interaction
ENSG00000072110	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1009145	0.88[CHB][hapmap]
rs10141794	0.88[CHB][hapmap]
rs12588423	0.94[CEU][hapmap];0.84[CHB][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2268976	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2268977	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2268978	0.84[CHB][hapmap];0.80[ASN][1000 genomes]
rs2268980	0.89[CHB][hapmap]
rs2268982	0.88[CHB][hapmap]
rs2268983	0.88[CHB][hapmap]
rs2268985	0.88[CHB][hapmap]
rs2268986	0.83[CHB][hapmap]
rs2300876	1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2300878	0.84[CHB][hapmap]
rs3742897	0.82[CEU][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs3784140	0.94[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4902672	0.88[CHB][hapmap]
rs61602390	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72733527	0.80[AMR][1000 genomes]
rs72733528	0.80[AMR][1000 genomes]
rs72733532	0.88[AMR][1000 genomes]
rs72733546	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs8010464	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs8010531	0.96[ASN][1000 genomes]
rs8010912	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs8011150	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs8011633	0.96[ASN][1000 genomes]
rs8011650	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv564964	chr14:69392264-69423164	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69387400-69420400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr14:69394200-69422200	Weak transcription	Dnd41	blood
3	chr14:69399000-69423200	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr14:69400800-69420400	Enhancers	Fetal Lung	lung
5	chr14:69402000-69426200	Enhancers	Primary T cells fromperipheralblood	blood
6	chr14:69402200-69425200	Enhancers	Right Atrium	heart
7	chr14:69402400-69423600	Enhancers	Fetal Heart	heart
8	chr14:69402400-69427000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr14:69403600-69420400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:69409800-69434400	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr14:69410200-69420200	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr14:69411200-69442600	Weak transcription	Fetal Brain Female	brain
13	chr14:69412200-69420400	Enhancers	Placenta	Placenta
14	chr14:69412400-69420400	Enhancers	Placenta Amnion	Placenta Amnion
15	chr14:69413400-69423800	Enhancers	HUVEC	blood vessel
16	chr14:69414800-69428800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr14:69415200-69423400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr14:69416200-69420000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:69416400-69422200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr14:69416400-69423200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr14:69417400-69420000	Enhancers	Stomach Mucosa	stomach
22	chr14:69417400-69420200	Enhancers	Esophagus	oesophagus
23	chr14:69417400-69420400	Enhancers	Fetal Muscle Trunk	muscle
24	chr14:69417400-69420400	Enhancers	Right Ventricle	heart
25	chr14:69417400-69429200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr14:69417600-69420200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr14:69417600-69420200	Enhancers	Fetal Thymus	thymus
28	chr14:69417600-69420200	Enhancers	Psoas Muscle	Psoas
29	chr14:69417600-69420400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr14:69417600-69420400	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
31	chr14:69417600-69420400	Enhancers	Fetal Muscle Leg	muscle
32	chr14:69417600-69420400	Enhancers	Gastric	stomach
33	chr14:69417600-69420400	Enhancers	Left Ventricle	heart
34	chr14:69417600-69420400	Enhancers	Lung	lung
35	chr14:69417600-69420400	Enhancers	Pancreas	Pancrea
36	chr14:69417600-69420400	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr14:69417600-69420400	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr14:69417600-69420400	Enhancers	K562	blood
39	chr14:69417600-69420600	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr14:69417800-69420200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr14:69417800-69420400	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr14:69417800-69420400	Enhancers	Fetal Intestine Large	intestine
43	chr14:69417800-69420400	Genic enhancers	HepG2	liver
44	chr14:69418000-69420000	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr14:69418000-69420200	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr14:69418000-69420200	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr14:69418000-69420200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr14:69418000-69420200	Enhancers	Liver	Liver
49	chr14:69418000-69420200	Enhancers	Brain Hippocampus Middle	brain
50	chr14:69418000-69420400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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