Variant report

Variant	rs2841279
Chromosome Location	chr14:105311249-105311250
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:105218316..105220941-chr14:105310362..105313289,2	MCF-7	breast:
2	chr14:105308114..105313218-chr14:105327481..105332918,6	MCF-7	breast:
3	chr14:105309612..105312495-chr14:105330781..105333618,2	K562	blood:
4	chr14:105309392..105312329-chr14:105316131..105318426,2	K562	blood:
5	chr14:105309593..105311570-chr14:105314429..105316740,2	K562	blood:
6	chr14:105292878..105295272-chr14:105309126..105311348,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000099814	Chromatin interaction
ENSG00000184990	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10141861	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11850227	1.00[CHB][hapmap]
rs12050087	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs2582540	1.00[CHB][hapmap]
rs2582559	1.00[CHB][hapmap]
rs2819467	1.00[MEX][hapmap]
rs2841214	0.92[ASN][1000 genomes]
rs2841218	0.83[ASN][1000 genomes]
rs2841234	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[GIH][hapmap];0.81[EUR][1000 genomes]
rs2841247	1.00[CHB][hapmap]
rs2841249	1.00[CHB][hapmap]
rs2841253	1.00[CHB][hapmap]
rs2841255	1.00[CHB][hapmap]
rs3001411	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs41314519	0.81[EUR][1000 genomes]
rs58867885	1.00[ASN][1000 genomes]
rs67605404	0.81[EUR][1000 genomes]
rs7144557	0.81[EUR][1000 genomes]
rs72700126	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72700128	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700150	0.81[EUR][1000 genomes]
rs72700152	0.81[EUR][1000 genomes]
rs72700170	0.81[EUR][1000 genomes]
rs72700172	0.81[EUR][1000 genomes]
rs72700175	0.84[EUR][1000 genomes]
rs72700176	0.81[EUR][1000 genomes]
rs72700184	0.81[EUR][1000 genomes]
rs72700185	0.81[EUR][1000 genomes]
rs72700187	0.81[EUR][1000 genomes]
rs72700189	0.81[EUR][1000 genomes]
rs72700192	0.81[EUR][1000 genomes]
rs72716002	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72718103	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72718104	0.88[EUR][1000 genomes]
rs72718105	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8012919	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530812	chr14:104775571-105364883	Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1053591	chr14:105024558-105475931	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	nsv542224	chr14:105024558-105475931	Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	esv2830002	chr14:105078251-105348552	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
5	nsv902388	chr14:105092479-105311249	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
6	nsv902389	chr14:105092479-105366499	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
7	esv1828345	chr14:105100787-105803170	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
8	nsv470677	chr14:105126354-105348552	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
9	nsv542225	chr14:105133688-105803170	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
10	nsv517038	chr14:105146579-105311249	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
11	nsv566057	chr14:105146579-105311249	Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
12	nsv566060	chr14:105148655-105311249	Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
13	nsv902404	chr14:105148655-105311249	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
14	nsv902405	chr14:105148655-105340643	Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
15	nsv902409	chr14:105154105-105311249	Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
16	nsv566063	chr14:105154105-105312935	Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
17	nsv542227	chr14:105157572-105803170	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
18	nsv902412	chr14:105238701-105361934	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
19	esv1836552	chr14:105246686-105348552	Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
20	nsv902413	chr14:105246686-105366499	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
21	esv1833474	chr14:105268228-105332154	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
22	nsv566093	chr14:105274093-105321835	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
23	esv1840298	chr14:105274292-105366499	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
24	nsv902416	chr14:105277209-105366499	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
25	nsv511540	chr14:105285159-105314093	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
26	nsv456456	chr14:105285159-105412541	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
27	nsv566099	chr14:105285159-105412541	Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
28	esv1793916	chr14:105292942-105321643	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
29	esv1825507	chr14:105292942-105321643	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105309600-105311400	Active TSS	Brain Angular Gyrus	brain
2	chr14:105309600-105311400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
3	chr14:105309800-105311400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:105309800-105311400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
5	chr14:105310000-105311600	Bivalent Enhancer	Spleen	Spleen
6	chr14:105310400-105311400	Enhancers	Gastric	stomach
7	chr14:105310400-105311600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr14:105310400-105311800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:105310400-105313600	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr14:105310600-105311400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:105310600-105311400	Bivalent Enhancer	Lung	lung
12	chr14:105310800-105311400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr14:105310800-105311400	Enhancers	Pancreas	Pancrea
14	chr14:105310800-105311400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
15	chr14:105310800-105311800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:105311000-105311400	Enhancers	H9 Cell Line	embryonic stem cell
17	chr14:105311000-105311400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:105311000-105311400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
19	chr14:105311000-105311400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr14:105311000-105311400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr14:105311000-105311400	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
22	chr14:105311000-105311400	Bivalent Enhancer	Colon Smooth Muscle	Colon
23	chr14:105311000-105311400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
24	chr14:105311000-105311400	Bivalent Enhancer	Fetal Intestine Small	intestine
25	chr14:105311000-105311400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
26	chr14:105311000-105311400	Bivalent Enhancer	Right Ventricle	heart
27	chr14:105311000-105311400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
28	chr14:105311000-105311600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr14:105311000-105311800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr14:105311000-105330600	Weak transcription	Right Atrium	heart
31	chr14:105311200-105311400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:105311200-105311400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr14:105311200-105311400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
34	chr14:105311200-105311400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
35	chr14:105311200-105311400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
36	chr14:105311200-105311400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr14:105311200-105311400	Bivalent Enhancer	Adipose Nuclei	Adipose
38	chr14:105311200-105311400	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
39	chr14:105311200-105311400	Bivalent Enhancer	Brain Hippocampus Middle	brain
40	chr14:105311200-105311400	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
41	chr14:105311200-105311400	Bivalent/Poised TSS	Psoas Muscle	Psoas
42	chr14:105311200-105311600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
43	chr14:105311200-105311600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr14:105311200-105311800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell

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