Variant report

Variant	rs1256069
Chromosome Location	chr14:64689440-64689441
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1048315	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1152576	0.86[EUR][1000 genomes]
rs1152583	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1152587	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1255998	0.84[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs1256062	0.84[ASN][1000 genomes]
rs1256064	0.89[EUR][1000 genomes]
rs944458	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv456326	chr14:64420413-64754361	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv564905	chr14:64420413-64754361	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv902021	chr14:64647646-64715794	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv1050378	chr14:64686543-64703012	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64664000-64699600	Weak transcription	Small Intestine	intestine
2	chr14:64664200-64698600	Weak transcription	HMEC	breast
3	chr14:64665400-64700200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr14:64666800-64699400	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr14:64667400-64690200	Weak transcription	HepG2	liver
6	chr14:64672800-64696600	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr14:64674600-64696000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr14:64674600-64696200	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr14:64674600-64696400	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr14:64674600-64699800	Strong transcription	Liver	Liver
11	chr14:64674800-64692400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr14:64674800-64692600	Strong transcription	Duodenum Smooth Muscle	Duodenum
13	chr14:64674800-64692800	Strong transcription	Primary T cells from cord blood	blood
14	chr14:64674800-64695800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr14:64674800-64696000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr14:64674800-64696000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr14:64674800-64696000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:64674800-64696200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr14:64674800-64696200	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr14:64674800-64696200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr14:64674800-64696400	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr14:64674800-64696400	Strong transcription	Dnd41	blood
23	chr14:64674800-64696800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:64674800-64697600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr14:64674800-64698400	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr14:64674800-64699000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:64674800-64700000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr14:64674800-64700600	Strong transcription	Fetal Intestine Large	intestine
29	chr14:64675000-64696400	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr14:64675000-64696400	Strong transcription	Brain Germinal Matrix	brain
31	chr14:64675200-64696400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr14:64675400-64695200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr14:64675400-64696200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr14:64675600-64691800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr14:64676200-64690000	Weak transcription	Stomach Mucosa	stomach
36	chr14:64676600-64696200	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr14:64676800-64691200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr14:64676800-64698800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr14:64677000-64698600	Weak transcription	NHLF	lung
40	chr14:64677000-64698800	Strong transcription	Duodenum Mucosa	Duodenum
41	chr14:64677000-64699400	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr14:64677200-64690000	Weak transcription	A549	lung
43	chr14:64677200-64691800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr14:64677200-64698600	Weak transcription	NHDF-Ad	bronchial
45	chr14:64677400-64697800	Strong transcription	Fetal Stomach	stomach
46	chr14:64677600-64698200	Strong transcription	Colonic Mucosa	Colon
47	chr14:64679800-64698200	Weak transcription	HUVEC	blood vessel
48	chr14:64679800-64698800	Weak transcription	NH-A	brain
49	chr14:64680200-64690200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
50	chr14:64680600-64694800	Strong transcription	Fetal Intestine Small	intestine

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