Variant report

Variant	rs4672018
Chromosome Location	chr2:55347825-55347826
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:55347589..55350399-chr2:55353012..55356550,3	K562	blood:
2	chr2:55273963..55277742-chr2:55344682..55351127,9	K562	blood:
3	chr2:55275026..55277831-chr2:55345996..55347891,2	MCF-7	breast:
4	chr2:55346562..55348270-chr2:55453778..55456492,2	K562	blood:
5	chr2:55325626..55328074-chr2:55345685..55348277,2	K562	blood:
6	chr2:55339781..55342552-chr2:55346442..55349594,4	K562	blood:
7	chr2:55347566..55351333-chr2:55355556..55357913,4	K562	blood:
8	chr2:55255186..55258524-chr2:55346221..55348339,3	K562	blood:
9	chr2:55276893..55279420-chr2:55345173..55348059,4	K562	blood:
10	chr2:55315563..55318504-chr2:55346291..55347986,2	K562	blood:
11	chr2:55347650..55349740-chr2:55350733..55352941,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000115310	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12464877	1.00[ASW][hapmap];0.89[MKK][hapmap];0.93[TSI][hapmap];0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs17046514	1.00[ASW][hapmap]
rs2580768	1.00[ASW][hapmap]
rs2580770	1.00[ASW][hapmap]
rs2580771	1.00[ASW][hapmap]
rs2588515	1.00[ASW][hapmap]
rs2920863	0.90[JPT][hapmap]
rs2968778	0.91[CEU][hapmap];0.86[TSI][hapmap]
rs4672003	1.00[ASW][hapmap]
rs6734314	1.00[ASW][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522772	chr2:55347472-55349726	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55337200-55351000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:55339400-55351000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:55340800-55348000	Enhancers	Brain Hippocampus Middle	brain
4	chr2:55340800-55348000	Enhancers	Brain Substantia Nigra	brain
5	chr2:55342400-55350200	Enhancers	Fetal Heart	heart
6	chr2:55344400-55350200	Enhancers	Brain Cingulate Gyrus	brain
7	chr2:55344400-55350600	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr2:55344600-55348600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:55344600-55350000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:55345200-55349000	Enhancers	Primary hematopoietic stem cells	blood
11	chr2:55345400-55350200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr2:55345400-55350200	Enhancers	Brain Angular Gyrus	brain
13	chr2:55345600-55348000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr2:55345600-55348000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr2:55345600-55348200	Enhancers	Primary B cells from cord blood	blood
16	chr2:55345600-55348200	Enhancers	Primary B cells from peripheral blood	blood
17	chr2:55345600-55348400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:55345600-55350200	Enhancers	Brain Germinal Matrix	brain
19	chr2:55345600-55350200	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr2:55345600-55350400	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr2:55345800-55348400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr2:55345800-55348400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:55345800-55348400	Enhancers	Fetal Thymus	thymus
24	chr2:55345800-55348600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr2:55345800-55348600	Enhancers	Adipose Nuclei	Adipose
26	chr2:55345800-55348800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:55345800-55348800	Enhancers	NHDF-Ad	bronchial
28	chr2:55345800-55349000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:55346000-55348200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:55346000-55351600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr2:55346200-55350000	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr2:55346400-55348600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:55346400-55349600	Weak transcription	HUVEC	blood vessel
34	chr2:55346600-55348000	Enhancers	GM12878-XiMat	blood
35	chr2:55346600-55348600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr2:55346600-55350800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr2:55346800-55348000	Enhancers	H1 Cell Line	embryonic stem cell
38	chr2:55346800-55348000	Flanking Active TSS	Brain Anterior Caudate	brain
39	chr2:55346800-55348000	Enhancers	Colon Smooth Muscle	Colon
40	chr2:55346800-55348400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:55346800-55348400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr2:55346800-55348400	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr2:55346800-55348400	Enhancers	Fetal Lung	lung
44	chr2:55346800-55348400	Enhancers	Placenta	Placenta
45	chr2:55346800-55348400	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr2:55346800-55348600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:55346800-55348600	Enhancers	NHLF	lung
48	chr2:55346800-55349200	Enhancers	Fetal Stomach	stomach
49	chr2:55346800-55350200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:55347000-55348000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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