Variant report

Variant	rs7239271
Chromosome Location	chr18:9580472-9580473
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9579114..9582159-chr18:9598940..9602426,3	K562	blood:
2	chr18:9580164..9581759-chr18:9584185..9586548,2	K562	blood:
3	chr18:9580227..9582159-chr18:9599784..9602426,2	K562	blood:
4	chr18:9566461..9572540-chr18:9573224..9580743,8	K562	blood:
5	chr18:9578277..9581617-chr18:9743011..9745983,3	K562	blood:

Variant related genes	Relation type
ENSG00000154845	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10451359	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11081484	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11874827	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12458145	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13381718	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2306134	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28366801	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28838295	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28879133	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3826562	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3898762	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56817979	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57356844	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58359806	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60220573	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7231313	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7233002	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8085047	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9304040	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9945701	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9946235	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9946612	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9948831	0.82[AMR][1000 genomes]
rs9949507	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9951382	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9961558	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv833585	chr18:9401630-9597291	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	esv3693417	chr18:9512985-9693638	Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv543644	chr18:9576145-9612516	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9545800-9583600	Strong transcription	Primary T cells fromperipheralblood	blood
2	chr18:9545800-9595200	Strong transcription	Dnd41	blood
3	chr18:9549600-9581800	Weak transcription	Psoas Muscle	Psoas
4	chr18:9551000-9612200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr18:9553800-9582000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr18:9553800-9613600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr18:9555400-9580600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr18:9558000-9580600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr18:9559000-9586800	Weak transcription	Small Intestine	intestine
10	chr18:9559600-9580600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr18:9559600-9587000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr18:9563000-9581600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr18:9563200-9580600	Weak transcription	Aorta	Aorta
14	chr18:9563600-9580600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr18:9563600-9591600	Weak transcription	Colonic Mucosa	Colon
16	chr18:9563600-9594800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr18:9565200-9594200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr18:9566800-9592600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr18:9566800-9594600	Strong transcription	HSMM	muscle
20	chr18:9568600-9587600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr18:9569800-9582400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr18:9570400-9594400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr18:9570600-9580600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr18:9570600-9580600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr18:9570600-9580800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr18:9570600-9580800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr18:9570600-9580800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr18:9572000-9580800	Weak transcription	GM12878-XiMat	blood
29	chr18:9572200-9580600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr18:9572200-9580600	Weak transcription	Brain Anterior Caudate	brain
31	chr18:9572200-9580600	Weak transcription	Esophagus	oesophagus
32	chr18:9572200-9581600	Weak transcription	Fetal Brain Male	brain
33	chr18:9572200-9587400	Weak transcription	Ovary	ovary
34	chr18:9572600-9580800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr18:9574600-9581800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr18:9575000-9580600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr18:9575800-9580800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr18:9575800-9592800	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr18:9576000-9581600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr18:9576000-9594400	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr18:9576200-9580600	Weak transcription	Brain Angular Gyrus	brain
42	chr18:9576200-9580600	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr18:9576200-9580600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr18:9576200-9580600	Weak transcription	HSMMtube	muscle
45	chr18:9576200-9581200	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr18:9576200-9581800	Weak transcription	Fetal Heart	heart
47	chr18:9576200-9584800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr18:9576200-9586800	Weak transcription	Brain Hippocampus Middle	brain
49	chr18:9576200-9587600	Weak transcription	Brain Substantia Nigra	brain
50	chr18:9576200-9589000	Strong transcription	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links