Variant report

Variant	rs62081240
Chromosome Location	chr18:9827895-9827896
allele	C/T
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:9825919..9829366-chr18:9837136..9840599,3	K562	blood:
2	chr18:9825121..9830026-chr18:9912205..9915601,6	K562	blood:
3	chr18:9826334..9828827-chr18:9915765..9918017,3	K562	blood:
4	chr18:9814113..9818318-chr18:9827518..9830876,4	K562	blood:
5	chr18:9758423..9760981-chr18:9826062..9828845,2	K562	blood:
6	chr18:9827396..9830194-chr18:9940350..9942293,2	K562	blood:
7	chr18:9799694..9801821-chr18:9826551..9829296,3	K562	blood:
8	chr18:9825743..9828628-chr18:9854441..9856006,2	K562	blood:
9	chr18:9827039..9829893-chr18:9913729..9916030,3	K562	blood:
10	chr18:9825388..9828051-chr18:9924644..9926364,2	K562	blood:
11	chr18:9818684..9821424-chr18:9826588..9828868,2	K562	blood:
12	chr18:9827581..9829385-chr18:9951706..9954584,2	K562	blood:
13	chr18:9825905..9828229-chr18:9867492..9871014,3	K562	blood:
14	chr18:9827037..9829047-chr18:9904240..9906414,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000101558	Chromatin interaction
ENSG00000168461	Chromatin interaction
ENSG00000272799	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10048278	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11872226	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11875078	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12958417	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34797558	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35024660	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35732254	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72959354	0.83[AMR][1000 genomes];1.00[ASN][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	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
2	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
3	nsv469897	chr18:9674498-9870517	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv482461	chr18:9674498-9870517	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv833586	chr18:9783830-9971693	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9807800-9832000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr18:9812400-9834600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr18:9812400-9834800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr18:9818800-9828000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr18:9823000-9830600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr18:9823800-9828400	Enhancers	Rectal Smooth Muscle	rectum
7	chr18:9823800-9829200	Enhancers	Placenta	Placenta
8	chr18:9823800-9829400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr18:9823800-9829600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr18:9824400-9828400	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr18:9824400-9828400	Enhancers	Spleen	Spleen
12	chr18:9824400-9829000	Enhancers	Fetal Intestine Small	intestine
13	chr18:9824400-9829200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr18:9824600-9829600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr18:9824800-9828000	Enhancers	HUVEC	blood vessel
16	chr18:9824800-9828400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr18:9825000-9828400	Enhancers	Stomach Mucosa	stomach
18	chr18:9825200-9830400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr18:9825400-9828000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr18:9825400-9828000	Weak transcription	Pancreas	Pancrea
21	chr18:9825400-9828000	Weak transcription	Psoas Muscle	Psoas
22	chr18:9825400-9829800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr18:9825400-9832200	Weak transcription	Fetal Stomach	stomach
24	chr18:9825400-9849800	Weak transcription	Gastric	stomach
25	chr18:9825600-9828000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr18:9825800-9831000	Weak transcription	Brain Hippocampus Middle	brain
27	chr18:9825800-9831200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr18:9825800-9831200	Weak transcription	Right Ventricle	heart
29	chr18:9825800-9831400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr18:9825800-9835400	Weak transcription	Brain Angular Gyrus	brain
31	chr18:9826000-9828000	Weak transcription	Esophagus	oesophagus
32	chr18:9826000-9828200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr18:9826000-9828200	Weak transcription	Fetal Heart	heart
34	chr18:9826000-9828400	Enhancers	Colon Smooth Muscle	Colon
35	chr18:9826000-9828600	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr18:9826000-9828800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr18:9826000-9828800	Enhancers	Stomach Smooth Muscle	stomach
38	chr18:9826000-9829200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr18:9826000-9831000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr18:9826000-9835200	Weak transcription	Brain Anterior Caudate	brain
41	chr18:9826200-9828000	Weak transcription	HSMMtube	muscle
42	chr18:9826200-9828000	Enhancers	K562	blood
43	chr18:9826200-9830800	Weak transcription	Brain Substantia Nigra	brain
44	chr18:9826200-9831000	Weak transcription	Aorta	Aorta
45	chr18:9826200-9831800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr18:9826400-9828200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr18:9826400-9830200	Weak transcription	Fetal Intestine Large	intestine
48	chr18:9826600-9828200	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr18:9826600-9828200	Enhancers	Left Ventricle	heart
50	chr18:9826600-9828600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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