Variant report

Variant	rs4083463
Chromosome Location	chr14:81856323-81856324
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81847525..81850212-chr14:81854009..81856380,2	MCF-7	breast:
2	chr14:81740539..81742238-chr14:81855597..81857728,2	MCF-7	breast:
3	chr14:81855959..81858905-chr14:81901728..81904527,2	K562	blood:
4	chr14:81848326..81851225-chr14:81856125..81857650,2	K562	blood:

Variant related genes	Relation type
ENSG00000140022	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12432021	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12435764	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2371597	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs59969857	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61986593	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61986597	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61986598	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61986599	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72703728	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8020575	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3358936	chr14:81786719-81928269	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv902119	chr14:81810945-81884857	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	nsv1047694	chr14:81831147-82534026	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv542145	chr14:81831147-82534026	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81833200-81858400	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr14:81834200-81859200	Weak transcription	Placenta	Placenta
3	chr14:81836400-81885800	Weak transcription	Gastric	stomach
4	chr14:81837000-81858800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr14:81847200-81856800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:81849600-81860600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:81849800-81858600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:81850000-81857400	Weak transcription	NHEK	skin
9	chr14:81850000-81858000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:81850400-81864000	Weak transcription	Psoas Muscle	Psoas
11	chr14:81851000-81856800	Weak transcription	Esophagus	oesophagus
12	chr14:81851000-81858000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr14:81851600-81857600	Weak transcription	HMEC	breast
14	chr14:81852000-81858600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr14:81852000-81860800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr14:81852200-81857400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr14:81852200-81857400	Weak transcription	NHDF-Ad	bronchial
18	chr14:81852400-81861000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr14:81852400-81862600	Weak transcription	Hela-S3	cervix
20	chr14:81852600-81856800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:81852600-81859600	Weak transcription	Spleen	Spleen
22	chr14:81852600-81861600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:81852800-81863800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr14:81852800-81899800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr14:81853000-81857600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr14:81853200-81858600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr14:81853200-81859600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr14:81853200-81860000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr14:81853200-81860800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr14:81853200-81862400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr14:81853200-81866400	Weak transcription	Brain Substantia Nigra	brain
32	chr14:81853200-81866600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr14:81853400-81856600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:81853400-81857400	Weak transcription	Brain Germinal Matrix	brain
35	chr14:81853400-81861000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr14:81853400-81861000	Weak transcription	Brain Angular Gyrus	brain
37	chr14:81853600-81861000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr14:81853800-81860800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr14:81854400-81857200	Weak transcription	Ovary	ovary
40	chr14:81854600-81856600	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr14:81855000-81861200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr14:81855000-81866000	Strong transcription	K562	blood
43	chr14:81855200-81864800	Strong transcription	Primary hematopoietic stem cells	blood
44	chr14:81855200-81864800	Weak transcription	Small Intestine	intestine
45	chr14:81855800-81859400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr14:81855800-81860800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr14:81855800-81861000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr14:81856000-81856800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr14:81856000-81860800	Weak transcription	Brain Anterior Caudate	brain
50	chr14:81856000-81861200	Weak transcription	Fetal Kidney	kidney

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links