Variant report

Variant	rs3093929
Chromosome Location	chr14:20824122-20824123
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	chr14:20809897..20813381-chr14:20823524..20827429,6	MCF-7	breast:
2	chr14:20823563..20825778-chr14:20921246..20923289,2	K562	blood:

Variant related genes	Relation type
ENSG00000259001	Chromatin interaction
ENSG00000092094	Chromatin interaction
ENSG00000129484	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs17111188	1.00[EUR][1000 genomes]
rs2229100	1.00[EUR][1000 genomes]
rs3093919	1.00[EUR][1000 genomes]
rs36219435	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56713402	1.00[AMR][1000 genomes]
rs61351655	1.00[EUR][1000 genomes]
rs61455440	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7143340	1.00[EUR][1000 genomes]
rs7160712	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73583407	1.00[EUR][1000 genomes]
rs73583490	1.00[EUR][1000 genomes]
rs73587007	1.00[EUR][1000 genomes]
rs73587012	1.00[EUR][1000 genomes]
rs73587064	1.00[AMR][1000 genomes]
rs73587074	1.00[AMR][1000 genomes]
rs73587075	1.00[AMR][1000 genomes]
rs73587082	1.00[AMR][1000 genomes]
rs74033863	1.00[EUR][1000 genomes]
rs74033868	1.00[EUR][1000 genomes]
rs8005210	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8013332	1.00[EUR][1000 genomes]
rs8016586	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	nsv1037160	chr14:20517485-20901811	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS 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	103 gene(s)	inside rSNPs	diseases
4	nsv541974	chr14:20517485-20901811	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
5	esv1806993	chr14:20743269-20841162	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
6	nsv534131	chr14:20757405-20886235	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers 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	87 gene(s)	inside rSNPs	diseases
7	esv21015	chr14:20800765-21257878	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20812200-20825400	Weak transcription	Esophagus	oesophagus
2	chr14:20812400-20824400	Weak transcription	Stomach Mucosa	stomach
3	chr14:20812400-20880200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr14:20812600-20824400	Weak transcription	Fetal Heart	heart
5	chr14:20812600-20831800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr14:20812600-20834600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr14:20812600-20841000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr14:20812600-20845600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:20813000-20827000	Strong transcription	Fetal Muscle Trunk	muscle
10	chr14:20813000-20827800	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr14:20813000-20827800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr14:20813000-20830800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:20813200-20824400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:20813200-20824400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr14:20813200-20825800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr14:20813200-20825800	Strong transcription	Fetal Stomach	stomach
17	chr14:20813200-20826200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr14:20813200-20826600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:20813200-20826800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr14:20813200-20827000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr14:20813200-20827000	Strong transcription	Skeletal Muscle Male	skeletal muscle
22	chr14:20813200-20827400	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr14:20813200-20827600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:20813200-20827600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr14:20813200-20827800	Strong transcription	Fetal Intestine Large	intestine
26	chr14:20813200-20827800	Strong transcription	Placenta	Placenta
27	chr14:20813200-20828000	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr14:20813200-20828400	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr14:20813200-20829400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr14:20813200-20831600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr14:20813200-20869200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr14:20813400-20826000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr14:20813400-20826400	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr14:20813400-20826600	Strong transcription	Fetal Muscle Leg	muscle
35	chr14:20813400-20826600	Strong transcription	Left Ventricle	heart
36	chr14:20813400-20827200	Strong transcription	Brain Anterior Caudate	brain
37	chr14:20813400-20827400	Strong transcription	Brain Hippocampus Middle	brain
38	chr14:20813400-20827800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr14:20813400-20827800	Strong transcription	Liver	Liver
40	chr14:20813400-20828600	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr14:20813400-20829000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr14:20813600-20826200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr14:20813600-20826800	Strong transcription	Duodenum Mucosa	Duodenum
44	chr14:20813600-20827000	Strong transcription	Hela-S3	cervix
45	chr14:20813600-20827600	Strong transcription	Adipose Nuclei	Adipose
46	chr14:20813600-20827800	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr14:20813600-20827800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr14:20813600-20827800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr14:20813600-20827800	Strong transcription	HSMM	muscle
50	chr14:20814200-20827200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links