Variant report

Variant	rs58071351
Chromosome Location	chr14:31594448-31594449
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:31594339-31595550	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31592934..31595654-chr14:31599577..31602427,2	MCF-7	breast:

Variant related genes	Relation type
HECTD1	TF binding region

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11620816	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11622403	0.91[EUR][1000 genomes]
rs11625570	0.93[EUR][1000 genomes]
rs11625798	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11626343	0.93[EUR][1000 genomes]
rs11845860	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11848094	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11848563	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17097688	0.84[EUR][1000 genomes]
rs17097735	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17097741	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17097743	0.99[EUR][1000 genomes]
rs34039100	0.89[EUR][1000 genomes]
rs34684806	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34745649	0.93[EUR][1000 genomes]
rs3954287	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs45610935	0.90[EUR][1000 genomes]
rs55907561	0.84[EUR][1000 genomes]
rs56168081	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56346233	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57000706	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57893693	0.93[EUR][1000 genomes]
rs58204331	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58771204	0.90[EUR][1000 genomes]
rs59458716	0.93[EUR][1000 genomes]
rs59933112	0.91[EUR][1000 genomes]
rs60350855	0.91[EUR][1000 genomes]
rs60928004	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61592116	0.91[EUR][1000 genomes]
rs66528205	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67960414	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72670334	0.87[EUR][1000 genomes]
rs72670351	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72670364	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72670371	0.93[EUR][1000 genomes]
rs72670374	0.93[EUR][1000 genomes]
rs72670375	0.93[EUR][1000 genomes]
rs72670377	0.93[EUR][1000 genomes]
rs72670385	0.93[EUR][1000 genomes]
rs72670390	0.93[EUR][1000 genomes]
rs72670391	0.93[EUR][1000 genomes]
rs72670396	0.93[EUR][1000 genomes]
rs72670398	0.90[EUR][1000 genomes]
rs72670399	0.93[EUR][1000 genomes]
rs9888564	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048736	chr14:31447842-31624912	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1049063	chr14:31473521-31622741	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv901587	chr14:31501505-31752664	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv832763	chr14:31501597-31680021	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1050054	chr14:31501703-31733642	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats 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	26 gene(s)	inside rSNPs	diseases
6	nsv1043033	chr14:31538984-31686696	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 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	chr14:31563800-31650000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
2	chr14:31564800-31648600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr14:31565400-31599000	Strong transcription	Adipose Nuclei	Adipose
4	chr14:31565600-31598000	Strong transcription	Liver	Liver
5	chr14:31565600-31648000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:31565800-31596800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr14:31566000-31599200	Strong transcription	Fetal Muscle Trunk	muscle
8	chr14:31566000-31627400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr14:31566200-31596800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr14:31566200-31597200	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr14:31566200-31599200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:31566200-31627000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr14:31566200-31635200	Strong transcription	Placenta	Placenta
14	chr14:31566200-31648200	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr14:31566400-31597800	Strong transcription	Primary B cells from peripheral blood	blood
16	chr14:31566400-31597800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr14:31566600-31597600	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr14:31567000-31597000	Strong transcription	HepG2	liver
19	chr14:31567000-31620200	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr14:31567000-31647600	Strong transcription	Duodenum Mucosa	Duodenum
21	chr14:31567000-31651200	Strong transcription	Dnd41	blood
22	chr14:31568200-31598600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr14:31572800-31604600	Strong transcription	Fetal Intestine Large	intestine
24	chr14:31573000-31597600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr14:31573000-31650200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr14:31573600-31608800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr14:31573800-31648200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:31575400-31598800	Strong transcription	Fetal Lung	lung
29	chr14:31576800-31623800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:31577200-31604000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr14:31577400-31598800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr14:31580200-31597000	Strong transcription	Primary hematopoietic stem cells	blood
33	chr14:31580200-31597800	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr14:31581400-31597000	Weak transcription	Stomach Mucosa	stomach
35	chr14:31587000-31598800	Strong transcription	NHDF-Ad	bronchial
36	chr14:31587600-31596600	Strong transcription	GM12878-XiMat	blood
37	chr14:31588000-31623800	Weak transcription	Psoas Muscle	Psoas
38	chr14:31588600-31607600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr14:31591800-31595800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr14:31591800-31597000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr14:31591800-31597600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr14:31591800-31597800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:31591800-31597800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr14:31591800-31598200	Weak transcription	Small Intestine	intestine
45	chr14:31591800-31656400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr14:31592000-31596000	Weak transcription	Pancreas	Pancrea
47	chr14:31592000-31596000	Weak transcription	Spleen	Spleen
48	chr14:31592000-31597600	Weak transcription	Aorta	Aorta
49	chr14:31592200-31594800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr14:31592200-31597000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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