Variant report

Variant	rs71361360
Chromosome Location	chr18:29521363-29521364
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr18:29521285-29521849	HL-60	blood:	n/a	chr18:29521549-29521558

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:29517111..29520943-chr18:29521139..29523956,5	MCF-7	breast:
2	chr18:29518719..29521005-chr18:29521192..29525426,5	MCF-7	breast:
3	chr18:29483369..29487458-chr18:29519948..29522209,3	K562	blood:
4	chr18:29485958..29488048-chr18:29520164..29521790,2	K562	blood:
5	chr18:29520857..29524705-chr18:29670705..29674434,7	K562	blood:
6	chr18:29494660..29496304-chr18:29519916..29522258,2	K562	blood:
7	chr18:29520544..29523172-chr18:33708356..33710539,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000263823	TF binding region
TRAPPC8	TF binding region
ENSG00000153339	Chromatin interaction
ENSG00000265008	Chromatin interaction
ENSG00000134759	Chromatin interaction
ENSG00000134758	Chromatin interaction
ENSG00000222320	Chromatin interaction
ENSG00000141424	Chromatin interaction

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

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

rs_ID	r²[population]
rs12957312	1.00[ASN][1000 genomes]
rs12964359	1.00[ASN][1000 genomes]
rs12967606	1.00[ASN][1000 genomes]
rs1630405	1.00[ASN][1000 genomes]
rs1680645	1.00[ASN][1000 genomes]
rs17661987	1.00[ASN][1000 genomes]
rs17718389	1.00[ASN][1000 genomes]
rs17718513	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34329580	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34959937	1.00[ASN][1000 genomes]
rs35703749	1.00[ASN][1000 genomes]
rs501570	1.00[ASN][1000 genomes]
rs616082	1.00[ASN][1000 genomes]
rs66534107	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs668996	1.00[ASN][1000 genomes]
rs71361344	1.00[ASN][1000 genomes]
rs71361345	1.00[ASN][1000 genomes]
rs71361358	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7227035	1.00[ASN][1000 genomes]
rs73409433	1.00[ASN][1000 genomes]
rs73411554	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9952659	1.00[ASN][1000 genomes]

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	nsv431975	chr18:29311034-29527902	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv1067252	chr18:29475073-29583744	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29432600-29521400	Weak transcription	Stomach Mucosa	stomach
2	chr18:29478600-29522000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr18:29482400-29522000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr18:29482600-29521600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr18:29482800-29521600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr18:29493000-29521600	Weak transcription	Aorta	Aorta
7	chr18:29493400-29521600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr18:29496600-29521400	Weak transcription	NHEK	skin
9	chr18:29500600-29521400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr18:29505200-29521800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr18:29506800-29521600	Weak transcription	A549	lung
12	chr18:29509600-29522000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr18:29509600-29522000	Weak transcription	Lung	lung
14	chr18:29510200-29521800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr18:29511200-29521600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr18:29511600-29521400	Weak transcription	NHLF	lung
17	chr18:29511800-29521400	Weak transcription	Fetal Kidney	kidney
18	chr18:29511800-29521400	Weak transcription	HSMM	muscle
19	chr18:29511800-29521400	Weak transcription	NHDF-Ad	bronchial
20	chr18:29512200-29521600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr18:29512200-29521600	Weak transcription	Brain Angular Gyrus	brain
22	chr18:29512200-29521600	Weak transcription	Brain Anterior Caudate	brain
23	chr18:29512400-29522000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr18:29512800-29521400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr18:29513800-29521400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr18:29516400-29521400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr18:29516400-29521400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr18:29516400-29521600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr18:29516800-29522000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr18:29516800-29522000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr18:29517400-29521400	Weak transcription	Thymus	Thymus
32	chr18:29517600-29521400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr18:29518000-29521600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr18:29518400-29521400	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr18:29518400-29521600	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr18:29518600-29521400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr18:29518600-29521400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr18:29518600-29521600	Enhancers	Fetal Brain Male	brain
39	chr18:29518600-29521800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr18:29518600-29521800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr18:29519400-29521400	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr18:29519400-29521400	Enhancers	Pancreas	Pancrea
43	chr18:29519400-29521600	Enhancers	Spleen	Spleen
44	chr18:29519400-29521800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr18:29519600-29521400	Genic enhancers	Fetal Intestine Small	intestine
46	chr18:29519800-29521600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr18:29519800-29521600	Weak transcription	Right Ventricle	heart
48	chr18:29520000-29521400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr18:29520000-29521400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr18:29520000-29521400	Weak transcription	Ovary	ovary

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