Variant report

Variant	rs644821
Chromosome Location	chr18:11954651-11954652
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:11954134..11957733-chr18:11976816..11981854,6	K562	blood:
2	chr18:11907678..11909849-chr18:11954112..11955972,2	MCF-7	breast:
3	chr18:11949109..11951046-chr18:11952725..11954944,2	K562	blood:
4	chr18:11952790..11957780-chr18:11977949..11982684,7	K562	blood:

Variant related genes	Relation type
ENSG00000154889	Chromatin interaction
ENSG00000273141	Chromatin interaction
ENSG00000141401	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs4796942	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	esv2758470	chr18:11897023-12076102	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	esv2758713	chr18:11897023-12076102	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv909384	chr18:11907374-12101109	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
7	nsv1063339	chr18:11909588-11979264	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv576495	chr18:11917410-11986557	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv909385	chr18:11938102-11986557	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
10	nsv909386	chr18:11938102-12095950	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	nsv909387	chr18:11953187-11986557	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11947800-11955000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr18:11949200-11954800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr18:11949200-11954800	Weak transcription	Adipose Nuclei	Adipose
4	chr18:11949200-11957000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr18:11949400-11954800	Weak transcription	NH-A	brain
6	chr18:11949400-11955000	Weak transcription	NHLF	lung
7	chr18:11949400-11955400	Weak transcription	Fetal Lung	lung
8	chr18:11951000-11956600	Enhancers	Placenta	Placenta
9	chr18:11952000-11954800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr18:11952000-11955400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr18:11952000-11955400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr18:11952000-11955400	Weak transcription	Fetal Stomach	stomach
13	chr18:11952000-11955800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr18:11952200-11954800	Weak transcription	Psoas Muscle	Psoas
15	chr18:11952200-11954800	Enhancers	NHEK	skin
16	chr18:11952200-11955400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr18:11952200-11955400	Weak transcription	Pancreas	Pancrea
18	chr18:11952200-11962400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr18:11952200-11964000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr18:11952400-11955000	Weak transcription	HepG2	liver
21	chr18:11952400-11955400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr18:11952400-11955400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr18:11953200-11954800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr18:11954000-11954800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr18:11954000-11954800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr18:11954000-11954800	Enhancers	Osteobl	bone
27	chr18:11954000-11955000	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr18:11954000-11955600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr18:11954000-11955600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr18:11954000-11955600	Enhancers	HSMMtube	muscle
31	chr18:11954000-11955800	Enhancers	HMEC	breast
32	chr18:11954000-11955800	Enhancers	HSMM	muscle
33	chr18:11954000-11956000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr18:11954200-11954800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr18:11954200-11955000	Flanking Active TSS	Hela-S3	cervix
36	chr18:11954200-11955600	Enhancers	NHDF-Ad	bronchial
37	chr18:11954400-11955800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr18:11954400-11955800	Enhancers	A549	lung
39	chr18:11954400-11956000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr18:11954400-11956200	Enhancers	Fetal Muscle Leg	muscle
41	chr18:11954600-11954800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr18:11954600-11955600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr18:11954600-11955800	Enhancers	Brain Anterior Caudate	brain
44	chr18:11954600-11956000	Enhancers	Brain Hippocampus Middle	brain
45	chr18:11954600-11956000	Enhancers	K562	blood
46	chr18:11954600-11958600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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