Variant report

Variant	rs2149482
Chromosome Location	chr14:55368627-55368628
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:55368060..55369582-chr14:55493883..55496744,2	MCF-7	breast:
2	chr14:55365292..55366794-chr14:55367173..55368937,2	K562	blood:
3	chr14:55368311..55371330-chr14:55594542..55598408,4	MCF-7	breast:
4	chr14:55030801..55036234-chr14:55366700..55372024,9	MCF-7	breast:
5	chr14:55343213..55346860-chr14:55368496..55370471,3	MCF-7	breast:
6	chr14:55247890..55252413-chr14:55368163..55370491,5	MCF-7	breast:
7	chr14:55351951..55354870-chr14:55368126..55370512,5	MCF-7	breast:
8	chr14:55367425..55371142-chr14:55516489..55521777,7	MCF-7	breast:
9	chr14:55289701..55291395-chr14:55367160..55368912,2	MCF-7	breast:
10	chr14:54954247..54955899-chr14:55367178..55369078,2	MCF-7	breast:
11	chr14:55032369..55034172-chr14:55367637..55369968,2	K562	blood:
12	chr14:55368105..55371463-chr14:55516987..55520396,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000180008	Chromatin interaction
ENSG00000265432	Chromatin interaction
ENSG00000168175	Chromatin interaction
ENSG00000258872	Chromatin interaction
ENSG00000197045	Chromatin interaction
ENSG00000020577	Chromatin interaction
ENSG00000131981	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10136972	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10137071	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10140164	0.87[ASN][1000 genomes]
rs10149103	0.86[ASN][1000 genomes]
rs10150110	0.81[EUR][1000 genomes]
rs1107960	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11158026	0.84[EUR][1000 genomes]
rs11158028	0.86[ASN][1000 genomes]
rs11621165	0.86[ASN][1000 genomes]
rs11621177	0.86[ASN][1000 genomes]
rs11626396	0.86[ASN][1000 genomes]
rs11846809	0.91[ASN][1000 genomes]
rs11852045	0.84[ASN][1000 genomes]
rs12147796	0.86[ASN][1000 genomes]
rs17832269	0.80[ASN][1000 genomes]
rs2183085	0.81[EUR][1000 genomes]
rs2840268	0.81[EUR][1000 genomes]
rs28481699	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3759664	0.82[ASN][1000 genomes]
rs3759665	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783640	0.82[EUR][1000 genomes]
rs3783642	0.93[AFR][1000 genomes]
rs3783643	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3783644	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56164809	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56206440	0.82[EUR][1000 genomes]
rs60258834	0.82[ASN][1000 genomes]
rs61224609	0.88[ASN][1000 genomes]
rs6572993	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6572994	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7146285	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7147286	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7152033	0.89[ASN][1000 genomes]
rs7157085	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7159933	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72715573	0.81[EUR][1000 genomes]
rs73280573	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8006363	0.84[ASN][1000 genomes]
rs8007267	0.86[ASN][1000 genomes]
rs8008858	0.85[ASN][1000 genomes]
rs8009997	0.80[ASN][1000 genomes]
rs8011446	0.80[ASN][1000 genomes]
rs8012152	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8013521	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8018688	0.82[ASN][1000 genomes]
rs8018800	0.82[EUR][1000 genomes]
rs8019220	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8019390	0.86[ASN][1000 genomes]
rs8019824	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8021303	0.82[ASN][1000 genomes]
rs8022453	0.84[ASN][1000 genomes]
rs8023187	0.96[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs9285583	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[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	nsv530042	chr14:55208170-55386966	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv932970	chr14:55326559-55532749	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	esv3358123	chr14:55359251-55378030	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
4	esv3345259	chr14:55368427-55370975	Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55367000-55370200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr14:55367200-55369000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr14:55367200-55369800	Active TSS	Liver	Liver
4	chr14:55367400-55368800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr14:55367400-55369800	Active TSS	GM12878-XiMat	blood
6	chr14:55367600-55369000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr14:55367600-55369400	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr14:55367600-55369400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
9	chr14:55367600-55369400	Flanking Active TSS	Osteobl	bone
10	chr14:55367600-55369600	Active TSS	Monocytes-CD14+_RO01746	blood
11	chr14:55367600-55370200	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr14:55367600-55370200	Active TSS	Primary T cells from cord blood	blood
13	chr14:55367600-55370200	Active TSS	Right Atrium	heart
14	chr14:55367800-55368800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:55367800-55368800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
16	chr14:55367800-55368800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:55367800-55368800	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr14:55367800-55368800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
19	chr14:55367800-55368800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
20	chr14:55367800-55368800	Flanking Active TSS	HUVEC	blood vessel
21	chr14:55367800-55369000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr14:55367800-55369200	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr14:55367800-55370000	Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr14:55367800-55370000	Active TSS	Fetal Kidney	kidney
25	chr14:55367800-55370200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
26	chr14:55367800-55370200	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr14:55367800-55370200	Active TSS	Colonic Mucosa	Colon
28	chr14:55367800-55370200	Active TSS	Psoas Muscle	Psoas
29	chr14:55367800-55370200	Active TSS	Rectal Smooth Muscle	rectum
30	chr14:55367800-55370200	Active TSS	Right Ventricle	heart
31	chr14:55368000-55368800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr14:55368000-55368800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
33	chr14:55368000-55368800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr14:55368000-55368800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
35	chr14:55368000-55368800	Flanking Active TSS	Placenta	Placenta
36	chr14:55368000-55369000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
37	chr14:55368000-55369000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
38	chr14:55368000-55369200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
39	chr14:55368000-55369200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr14:55368000-55369400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr14:55368000-55369800	Active TSS	Spleen	Spleen
42	chr14:55368000-55370000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
43	chr14:55368000-55370000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr14:55368000-55370000	Active TSS	Esophagus	oesophagus
45	chr14:55368000-55370000	Active TSS	Left Ventricle	heart
46	chr14:55368000-55370000	Active TSS	Lung	lung
47	chr14:55368000-55370000	Active TSS	Small Intestine	intestine
48	chr14:55368000-55370200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr14:55368000-55370200	Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr14:55368000-55370200	Active TSS	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links