Variant report

Variant	rs8013954
Chromosome Location	chr14:34997280-34997281
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	chr14:34996976..35002931-chr14:35005430..35010920,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129518	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10134534	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12147164	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12432069	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12883317	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12885600	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12886486	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4304943	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4453379	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4562976	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4567613	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6571659	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6571661	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6571662	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6571664	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7148513	0.88[ASN][1000 genomes]
rs7151142	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7151482	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7153635	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154505	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673455	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8010374	0.97[ASN][1000 genomes]
rs8012555	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8013554	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8019311	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8019739	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9707709	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040980	chr14:34345018-35255592	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv1051104	chr14:34592378-35007083	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv564193	chr14:34728127-35000188	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv528989	chr14:34744426-34998705	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv901600	chr14:34895977-35010041	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1037857	chr14:34943388-35007724	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	nsv542026	chr14:34943388-35007724	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	nsv1048408	chr14:34958352-35255592	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Genic enhancers 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
9	nsv1049048	chr14:34969406-35048672	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
10	nsv1042294	chr14:34974774-35017859	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv1053274	chr14:34980184-35020973	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	nsv1037503	chr14:34980184-35027115	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
13	nsv564194	chr14:34985645-35029396	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
14	esv3392700	chr14:34989406-35365530	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
15	nsv9131	chr14:34993966-35002835	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:34984400-35006600	Strong transcription	Fetal Muscle Leg	muscle
2	chr14:34984600-35005800	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr14:34984800-34998200	Strong transcription	Brain Germinal Matrix	brain
4	chr14:34984800-35002600	Strong transcription	Ovary	ovary
5	chr14:34984800-35003800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr14:34984800-35004400	Strong transcription	Adipose Nuclei	Adipose
7	chr14:34984800-35005800	Strong transcription	Sigmoid Colon	Sigmoid Colon
8	chr14:34984800-35006600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr14:34984800-35006800	Strong transcription	Fetal Stomach	stomach
10	chr14:34985000-35003800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:34985000-35003800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr14:34985000-35004000	Strong transcription	Duodenum Smooth Muscle	Duodenum
13	chr14:34985000-35004800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr14:34985000-35005400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr14:34985000-35005600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr14:34985000-35005800	Strong transcription	Primary B cells from peripheral blood	blood
17	chr14:34985000-35005800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr14:34985000-35005800	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr14:34985000-35006600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr14:34985000-35006800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr14:34985200-35003600	Strong transcription	Brain Cingulate Gyrus	brain
22	chr14:34985200-35005400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr14:34985200-35005600	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr14:34985200-35005600	Strong transcription	Liver	Liver
25	chr14:34985200-35005800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr14:34985200-35006600	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr14:34985200-35007000	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr14:34985400-34997400	Strong transcription	Rectal Smooth Muscle	rectum
29	chr14:34985400-34998800	Strong transcription	Skeletal Muscle Male	skeletal muscle
30	chr14:34985400-35002600	Strong transcription	Left Ventricle	heart
31	chr14:34985400-35003600	Strong transcription	Thymus	Thymus
32	chr14:34985400-35004000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr14:34985400-35006200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr14:34985400-35006600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr14:34985600-35005200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr14:34986000-34998200	Strong transcription	Brain Hippocampus Middle	brain
37	chr14:34986000-35006000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr14:34986600-35000800	Strong transcription	Dnd41	blood
39	chr14:34986600-35003600	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr14:34986600-35004000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr14:34986600-35008400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr14:34987000-35003400	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr14:34987000-35004200	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr14:34987200-34997800	Strong transcription	Brain Substantia Nigra	brain
45	chr14:34987200-34998000	Strong transcription	Primary T cells from cord blood	blood
46	chr14:34987200-34998000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr14:34987200-34999200	Strong transcription	Stomach Smooth Muscle	stomach
48	chr14:34987200-34999600	Strong transcription	Fetal Lung	lung
49	chr14:34987200-35003000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
50	chr14:34987200-35003000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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