Variant report

Variant	rs4548968
Chromosome Location	chr18:44480772-44480773
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:44480442..44483446-chr18:44494668..44497985,3	K562	blood:

Variant related genes	Relation type
ENSG00000078043	Chromatin interaction
ENSG00000167216	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10853544	0.88[EUR][1000 genomes]
rs10853545	0.89[EUR][1000 genomes]
rs1789152	0.88[EUR][1000 genomes]
rs1893427	0.88[EUR][1000 genomes]
rs2032215	0.88[EUR][1000 genomes]
rs2051292	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2156050	0.88[EUR][1000 genomes]
rs2187090	0.88[EUR][1000 genomes]
rs2956973	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3892820	0.89[EUR][1000 genomes]
rs4258717	0.88[EUR][1000 genomes]
rs4890341	0.86[EUR][1000 genomes]
rs4890703	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4890707	0.83[EUR][1000 genomes]
rs509647	0.80[EUR][1000 genomes]
rs553456	0.80[EUR][1000 genomes]
rs577200	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs605487	0.88[EUR][1000 genomes]
rs607780	0.86[EUR][1000 genomes]
rs626217	0.87[EUR][1000 genomes]
rs642897	0.83[EUR][1000 genomes]
rs643233	0.83[ASN][1000 genomes]
rs649076	0.85[EUR][1000 genomes]
rs6507709	0.89[EUR][1000 genomes]
rs6507714	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs658756	0.88[EUR][1000 genomes]
rs695001	0.83[EUR][1000 genomes]
rs7234570	0.88[EUR][1000 genomes]
rs7240239	0.89[EUR][1000 genomes]
rs8089938	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8091984	0.82[EUR][1000 genomes]
rs9304337	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9945443	0.88[EUR][1000 genomes]
rs9962523	0.88[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	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv2763189	chr18:44415779-44515384	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv833639	chr18:44426363-44552719	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1059378	chr18:44431832-44509052	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv522397	chr18:44451644-44516088	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44469000-44489200	Weak transcription	Fetal Stomach	stomach
2	chr18:44469800-44481800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr18:44469800-44493600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr18:44469800-44493800	Weak transcription	Lung	lung
5	chr18:44469800-44494600	Weak transcription	Fetal Brain Male	brain
6	chr18:44469800-44495200	Weak transcription	Hela-S3	cervix
7	chr18:44469800-44495400	Weak transcription	Brain Anterior Caudate	brain
8	chr18:44469800-44496000	Weak transcription	HSMMtube	muscle
9	chr18:44469800-44496400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr18:44470200-44482800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr18:44470200-44484000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr18:44470400-44486200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr18:44470600-44493000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr18:44470600-44495600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr18:44470800-44482200	Weak transcription	Aorta	Aorta
16	chr18:44470800-44482800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr18:44470800-44483400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr18:44470800-44483400	Weak transcription	Fetal Brain Female	brain
19	chr18:44470800-44484400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr18:44470800-44486800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr18:44470800-44493200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr18:44470800-44495200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr18:44470800-44495600	Weak transcription	Thymus	Thymus
24	chr18:44470800-44495800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr18:44470800-44495800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr18:44470800-44495800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr18:44471000-44483200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr18:44471000-44484400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr18:44471000-44484600	Weak transcription	Ovary	ovary
30	chr18:44471000-44485400	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr18:44471000-44487000	Weak transcription	Dnd41	blood
32	chr18:44471000-44488200	Weak transcription	HMEC	breast
33	chr18:44471000-44489000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr18:44471000-44495400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr18:44471000-44495400	Weak transcription	Fetal Thymus	thymus
36	chr18:44471000-44495600	Weak transcription	HUVEC	blood vessel
37	chr18:44471000-44495800	Weak transcription	HSMM	muscle
38	chr18:44471200-44493200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr18:44471200-44495400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr18:44471200-44495400	Weak transcription	Primary B cells from cord blood	blood
41	chr18:44472200-44480800	Weak transcription	Right Atrium	heart
42	chr18:44472200-44493800	Weak transcription	Left Ventricle	heart
43	chr18:44473600-44486200	Weak transcription	Fetal Lung	lung
44	chr18:44473800-44493400	Weak transcription	Fetal Heart	heart
45	chr18:44474400-44483000	Weak transcription	Primary B cells from peripheral blood	blood
46	chr18:44474400-44490800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr18:44474400-44493000	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr18:44474400-44493600	Weak transcription	HepG2	liver
49	chr18:44474600-44481800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr18:44474600-44481800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links