Variant report

Variant	rs62081241
Chromosome Location	chr18:9828026-9828027
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 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	chr18:9827951..9828913-chr3:49466778..49467706,2	Hela-S3	cervix:
15	chr18:9827037..9829047-chr18:9904240..9906414,2	K562	blood:

No data

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

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2267558	0.92[ASN][1000 genomes]
rs7244903	0.87[ASN][1000 genomes]
rs73387412	0.87[ASN][1000 genomes]
rs9959041	0.87[ASN][1000 genomes]
rs9961505	0.88[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	chr18:9823000-9830600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr18:9823800-9828400	Enhancers	Rectal Smooth Muscle	rectum
6	chr18:9823800-9829200	Enhancers	Placenta	Placenta
7	chr18:9823800-9829400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr18:9823800-9829600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr18:9824400-9828400	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr18:9824400-9828400	Enhancers	Spleen	Spleen
11	chr18:9824400-9829000	Enhancers	Fetal Intestine Small	intestine
12	chr18:9824400-9829200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr18:9824600-9829600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr18:9824800-9828400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr18:9825000-9828400	Enhancers	Stomach Mucosa	stomach
16	chr18:9825200-9830400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr18:9825400-9829800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr18:9825400-9832200	Weak transcription	Fetal Stomach	stomach
19	chr18:9825400-9849800	Weak transcription	Gastric	stomach
20	chr18:9825800-9831000	Weak transcription	Brain Hippocampus Middle	brain
21	chr18:9825800-9831200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr18:9825800-9831200	Weak transcription	Right Ventricle	heart
23	chr18:9825800-9831400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr18:9825800-9835400	Weak transcription	Brain Angular Gyrus	brain
25	chr18:9826000-9828200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr18:9826000-9828200	Weak transcription	Fetal Heart	heart
27	chr18:9826000-9828400	Enhancers	Colon Smooth Muscle	Colon
28	chr18:9826000-9828600	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr18:9826000-9828800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr18:9826000-9828800	Enhancers	Stomach Smooth Muscle	stomach
31	chr18:9826000-9829200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr18:9826000-9831000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr18:9826000-9835200	Weak transcription	Brain Anterior Caudate	brain
34	chr18:9826200-9830800	Weak transcription	Brain Substantia Nigra	brain
35	chr18:9826200-9831000	Weak transcription	Aorta	Aorta
36	chr18:9826200-9831800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr18:9826400-9828200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr18:9826400-9830200	Weak transcription	Fetal Intestine Large	intestine
39	chr18:9826600-9828200	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr18:9826600-9828200	Enhancers	Left Ventricle	heart
41	chr18:9826600-9828600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr18:9826600-9829400	Enhancers	NHLF	lung
43	chr18:9826800-9828200	Enhancers	Right Atrium	heart
44	chr18:9826800-9828400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr18:9826800-9828400	Enhancers	Lung	lung
46	chr18:9826800-9828600	Enhancers	Fetal Muscle Leg	muscle
47	chr18:9826800-9829400	Enhancers	NH-A	brain
48	chr18:9826800-9829600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr18:9827000-9829000	Enhancers	Duodenum Mucosa	Duodenum
50	chr18:9827200-9828400	Enhancers	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links