Variant report

Variant	rs1627084
Chromosome Location	chr18:43709891-43709892
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12607480	0.82[CHB][hapmap]
rs12959827	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12963169	0.82[CHB][hapmap]
rs1612622	0.82[EUR][1000 genomes]
rs1620584	0.86[EUR][1000 genomes]
rs1620609	0.80[EUR][1000 genomes]
rs1658908	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs1791407	0.94[CEU][hapmap];0.87[CHB][hapmap];0.80[EUR][1000 genomes]
rs1791413	0.88[CEU][hapmap];0.87[CHB][hapmap]
rs1791414	0.88[CEU][hapmap];0.87[CHB][hapmap]
rs2578189	0.82[CHB][hapmap]
rs2886001	0.82[EUR][1000 genomes]
rs3744992	0.82[CHB][hapmap]
rs4243278	0.82[CHB][hapmap]
rs4274509	0.84[CEU][hapmap];0.87[CHB][hapmap];0.81[EUR][1000 genomes]
rs4890620	0.82[CHB][hapmap]
rs7228642	0.82[AMR][1000 genomes]
rs7242845	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8083916	0.82[CHB][hapmap]
rs8090410	0.80[EUR][1000 genomes]
rs9954565	0.81[EUR][1000 genomes]
rs9965365	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062024	chr18:43589516-43749410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv543694	chr18:43589516-43749410	Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43685200-43712600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr18:43685200-43712600	Weak transcription	Stomach Mucosa	stomach
3	chr18:43685200-43715200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr18:43685200-43735600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr18:43685400-43710600	Weak transcription	Colonic Mucosa	Colon
6	chr18:43685400-43711200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr18:43685400-43711600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr18:43685400-43714800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr18:43685400-43714800	Weak transcription	NHDF-Ad	bronchial
10	chr18:43685400-43717200	Weak transcription	HepG2	liver
11	chr18:43685400-43729000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr18:43685400-43732200	Weak transcription	Fetal Kidney	kidney
13	chr18:43686000-43710200	Weak transcription	NHEK	skin
14	chr18:43686400-43711400	Weak transcription	Fetal Brain Male	brain
15	chr18:43690000-43715600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr18:43693200-43711000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr18:43693200-43712200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr18:43693400-43710400	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr18:43693800-43710200	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr18:43694200-43713600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr18:43694200-43714000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr18:43694200-43715600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr18:43694600-43717400	Weak transcription	Brain Anterior Caudate	brain
24	chr18:43695000-43714800	Weak transcription	HSMMtube	muscle
25	chr18:43695000-43715200	Weak transcription	K562	blood
26	chr18:43695200-43712400	Weak transcription	HMEC	breast
27	chr18:43695200-43712800	Weak transcription	A549	lung
28	chr18:43699200-43711000	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr18:43699400-43710400	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr18:43699600-43710400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr18:43699600-43711800	Strong transcription	Fetal Thymus	thymus
32	chr18:43699600-43712200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr18:43700200-43711400	Weak transcription	Hela-S3	cervix
34	chr18:43700400-43710800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr18:43700400-43712200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr18:43700600-43710200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr18:43700600-43711200	Strong transcription	Dnd41	blood
38	chr18:43700600-43711600	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr18:43700600-43712200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr18:43700800-43711000	Strong transcription	Primary B cells from peripheral blood	blood
41	chr18:43700800-43711800	Strong transcription	Thymus	Thymus
42	chr18:43700800-43712000	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr18:43701000-43711800	Weak transcription	Small Intestine	intestine
44	chr18:43701000-43712400	Strong transcription	Fetal Stomach	stomach
45	chr18:43701200-43712400	Strong transcription	Fetal Intestine Small	intestine
46	chr18:43701400-43711000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr18:43701600-43711000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr18:43701600-43711200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr18:43701800-43711200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr18:43702000-43710400	Strong transcription	H1 Cell Line	embryonic stem cell

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