Variant report

Variant	rs56163817
Chromosome Location	chr14:39596219-39596220
allele	A/G
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	chr14:39596169-39596258	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
GEMIN2	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11157046	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11157047	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11157048	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12434607	0.86[AMR][1000 genomes]
rs12895329	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs175341	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1950509	0.80[EUR][1000 genomes]
rs1956629	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1964842	0.81[ASN][1000 genomes]
rs2038357	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2082637	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2180217	0.81[ASN][1000 genomes]
rs2180792	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2252040	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4290398	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4616209	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4902402	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4902419	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6571896	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7147760	0.92[ASN][1000 genomes]
rs7154585	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs761804	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs761806	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs761807	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs8003485	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs8003807	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs8007063	0.80[AMR][1000 genomes]
rs8010111	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs8011855	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs8014255	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8014677	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs8021225	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs8022141	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9322993	0.92[ASN][1000 genomes]
rs9671927	0.88[AMR][1000 genomes];0.92[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	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1038622	chr14:39423562-39604035	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 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	chr14:39583800-39626000	Weak transcription	Spleen	Spleen
2	chr14:39584000-39615000	Weak transcription	Pancreas	Pancrea
3	chr14:39584000-39623600	Weak transcription	Esophagus	oesophagus
4	chr14:39584200-39610800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:39584200-39636000	Weak transcription	Small Intestine	intestine
6	chr14:39584200-39638600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:39584400-39617200	Weak transcription	Psoas Muscle	Psoas
8	chr14:39584400-39620800	Weak transcription	Colonic Mucosa	Colon
9	chr14:39584400-39626600	Weak transcription	Aorta	Aorta
10	chr14:39584600-39597600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:39584600-39597800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:39584600-39597800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr14:39584600-39603600	Weak transcription	K562	blood
14	chr14:39584600-39604600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr14:39584600-39609600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:39584600-39625800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr14:39585200-39608200	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr14:39585800-39608200	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr14:39586000-39608000	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr14:39586000-39608400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr14:39586000-39608600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:39586000-39608800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr14:39586200-39598600	Strong transcription	Dnd41	blood
24	chr14:39586600-39599800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr14:39586600-39610600	Strong transcription	HepG2	liver
26	chr14:39586800-39599400	Strong transcription	Primary B cells from peripheral blood	blood
27	chr14:39587000-39596400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr14:39587200-39609600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr14:39587400-39598600	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr14:39587400-39608400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr14:39587600-39597000	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr14:39587600-39598600	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr14:39587600-39607800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr14:39588000-39602000	Strong transcription	Fetal Muscle Leg	muscle
35	chr14:39588400-39596600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr14:39588600-39635400	Weak transcription	Fetal Brain Male	brain
37	chr14:39589200-39604800	Weak transcription	HSMMtube	muscle
38	chr14:39589200-39609200	Weak transcription	Gastric	stomach
39	chr14:39589200-39610000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr14:39589200-39618000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr14:39589200-39626400	Weak transcription	Fetal Heart	heart
42	chr14:39589400-39597800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr14:39589600-39603000	Weak transcription	NHEK	skin
44	chr14:39590200-39597200	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr14:39590400-39597000	Strong transcription	Thymus	Thymus
46	chr14:39591000-39597400	Weak transcription	Fetal Lung	lung
47	chr14:39591200-39603000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr14:39591800-39596400	Strong transcription	Duodenum Mucosa	Duodenum
49	chr14:39591800-39597800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr14:39591800-39597800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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