Variant report

Variant	rs72477243
Chromosome Location	chr18:9826568-9826569
allele	C/G
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:9805004..9807310-chr18:9824061..9827031,2	K562	blood:
2	chr18:9825772..9827514-chr18:9876235..9878782,2	K562	blood:
3	chr18:9825919..9829366-chr18:9837136..9840599,3	K562	blood:
4	chr18:9825121..9830026-chr18:9912205..9915601,6	K562	blood:
5	chr18:9826334..9828827-chr18:9915765..9918017,3	K562	blood:
6	chr18:9758423..9760981-chr18:9826062..9828845,2	K562	blood:
7	chr18:9799694..9801821-chr18:9826551..9829296,3	K562	blood:
8	chr18:9825743..9828628-chr18:9854441..9856006,2	K562	blood:
9	chr18:9825388..9828051-chr18:9924644..9926364,2	K562	blood:
10	chr18:9825905..9828229-chr18:9867492..9871014,3	K562	blood:
11	chr18:9823749..9827014-chr18:9916286..9918554,3	K562	blood:
12	chr18:9824992..9827514-chr18:9876180..9877735,2	K562	blood:
13	chr18:9820751..9822871-chr18:9824250..9826573,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000101558	Chromatin interaction
ENSG00000272799	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11873476	1.00[EUR][1000 genomes]
rs3786424	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6506704	1.00[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	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	nsv909366	chr18:9760942-9827368	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
6	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	chr18:9823800-9826800	Enhancers	Primary hematopoietic stem cells	blood
7	chr18:9823800-9827400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr18:9823800-9827800	Enhancers	NHEK	skin
9	chr18:9823800-9828400	Enhancers	Rectal Smooth Muscle	rectum
10	chr18:9823800-9829200	Enhancers	Placenta	Placenta
11	chr18:9823800-9829400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr18:9823800-9829600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr18:9824400-9827600	Enhancers	HMEC	breast
14	chr18:9824400-9827800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr18:9824400-9828400	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr18:9824400-9828400	Enhancers	Spleen	Spleen
17	chr18:9824400-9829000	Enhancers	Fetal Intestine Small	intestine
18	chr18:9824400-9829200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr18:9824600-9827000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr18:9824600-9829600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr18:9824800-9828000	Enhancers	HUVEC	blood vessel
22	chr18:9824800-9828400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr18:9825000-9828400	Enhancers	Stomach Mucosa	stomach
24	chr18:9825200-9827600	Weak transcription	Fetal Lung	lung
25	chr18:9825200-9830400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr18:9825400-9827200	Enhancers	Hela-S3	cervix
27	chr18:9825400-9827400	Weak transcription	Small Intestine	intestine
28	chr18:9825400-9828000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr18:9825400-9828000	Weak transcription	Pancreas	Pancrea
30	chr18:9825400-9828000	Weak transcription	Psoas Muscle	Psoas
31	chr18:9825400-9829800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr18:9825400-9832200	Weak transcription	Fetal Stomach	stomach
33	chr18:9825400-9849800	Weak transcription	Gastric	stomach
34	chr18:9825600-9827600	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr18:9825600-9828000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr18:9825800-9826600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr18:9825800-9826800	Weak transcription	Fetal Muscle Leg	muscle
38	chr18:9825800-9827400	Weak transcription	Primary B cells from peripheral blood	blood
39	chr18:9825800-9831000	Weak transcription	Brain Hippocampus Middle	brain
40	chr18:9825800-9831200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr18:9825800-9831200	Weak transcription	Right Ventricle	heart
42	chr18:9825800-9831400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr18:9825800-9835400	Weak transcription	Brain Angular Gyrus	brain
44	chr18:9826000-9826800	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr18:9826000-9826800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr18:9826000-9826800	Weak transcription	Lung	lung
47	chr18:9826000-9826800	Weak transcription	Right Atrium	heart
48	chr18:9826000-9827000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr18:9826000-9827000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr18:9826000-9827200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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