Variant report

Variant	rs56181324
Chromosome Location	chr18:43678024-43678025
allele	A/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:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:43676160..43680812-chr18:43682051..43685941,8	K562	blood:
2	chr18:43677240..43681670-chr18:43684014..43685946,4	K562	blood:
3	chr18:43676858..43680433-chr18:43682158..43685518,5	MCF-7	breast:
4	chr18:43669948..43672641-chr18:43676747..43679041,2	K562	blood:
5	chr16:22448047..22448923-chr18:43677782..43678339,2	HCT-116	colon:
6	chr18:43671592..43673196-chr18:43677862..43679768,2	MCF-7	breast:
7	chr18:43545858..43548536-chr18:43676652..43678402,2	MCF-7	breast:
8	chr18:43676576..43678249-chr18:43751942..43754579,2	MCF-7	breast:
9	chr18:43671600..43674875-chr18:43675841..43678916,7	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HAUS1-1	chr18:43676293-43678434	NONHSAT059127

No data

Variant related genes	Relation type
ENSG00000152234	Chromatin interaction
ENSG00000152242	Chromatin interaction
ENSG00000140743	Chromatin interaction
ENSG00000152240	Chromatin interaction
ENSG00000237296	Chromatin interaction
ENSG00000152223	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs11082509	0.91[EUR][1000 genomes]
rs11082510	0.91[EUR][1000 genomes]
rs11659357	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11659795	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11661945	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11664314	0.83[ASN][1000 genomes]
rs11664764	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11872954	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11872985	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11874712	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12954944	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13381709	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1800637	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1800639	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1800640	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2298787	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28457840	0.90[EUR][1000 genomes]
rs28504655	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28532950	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28699609	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28757346	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34907121	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35507656	0.91[EUR][1000 genomes]
rs3765636	0.91[EUR][1000 genomes]
rs56075249	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62096500	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71364522	0.85[EUR][1000 genomes]
rs7230064	0.92[EUR][1000 genomes]
rs7235373	0.91[EUR][1000 genomes]
rs7244921	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7244950	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8083998	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8085444	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8088881	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8089150	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8091452	0.86[EUR][1000 genomes]
rs8092674	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8093880	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8094902	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8095031	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8095608	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8097521	0.88[EUR][1000 genomes]
rs9304326	0.88[EUR][1000 genomes]
rs9304327	0.88[EUR][1000 genomes]
rs9304328	0.85[EUR][1000 genomes]
rs9304329	0.87[ASN][1000 genomes]
rs9304330	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9783884	0.91[EUR][1000 genomes]
rs9783887	0.91[EUR][1000 genomes]
rs9783888	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9944637	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9945606	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9945751	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9947908	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9954278	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9961065	0.91[EUR][1000 genomes]
rs9962380	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9962458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][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	nsv1064882	chr18:43558343-43687674	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv543693	chr18:43558343-43687674	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1062024	chr18:43589516-43749410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv543694	chr18:43589516-43749410	Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv962965	chr18:43678008-43706302	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43674600-43678800	Active TSS	Right Atrium	heart
2	chr18:43675400-43678600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr18:43675600-43678600	Active TSS	Hela-S3	cervix
4	chr18:43675800-43678600	Active TSS	GM12878-XiMat	blood
5	chr18:43676000-43678600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr18:43676000-43678600	Active TSS	Left Ventricle	heart
7	chr18:43676000-43678800	Active TSS	Psoas Muscle	Psoas
8	chr18:43676000-43679000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr18:43676200-43678400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr18:43676200-43678600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr18:43676400-43678400	Active TSS	HSMM	muscle
12	chr18:43676400-43678600	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr18:43676400-43678600	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr18:43676400-43678600	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr18:43676400-43678600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr18:43676400-43678600	Active TSS	Fetal Intestine Large	intestine
17	chr18:43676400-43678800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr18:43676400-43678800	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr18:43676400-43678800	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr18:43676400-43678800	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr18:43676400-43678800	Active TSS	K562	blood
22	chr18:43676400-43679000	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr18:43676400-43679000	Active TSS	HSMMtube	muscle
24	chr18:43676400-43679200	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr18:43676600-43678200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr18:43676600-43678200	Active TSS	Sigmoid Colon	Sigmoid Colon
27	chr18:43676600-43678400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr18:43676600-43678400	Active TSS	Rectal Mucosa Donor 31	rectum
29	chr18:43676600-43678400	Active TSS	Small Intestine	intestine
30	chr18:43676600-43678400	Active TSS	NH-A	brain
31	chr18:43676600-43678600	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr18:43676600-43678600	Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr18:43676600-43678600	Active TSS	Muscle Satellite Cultured Cells	--
34	chr18:43676600-43678600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr18:43676600-43678600	Active TSS	Brain Angular Gyrus	brain
36	chr18:43676600-43678600	Active TSS	Brain Anterior Caudate	brain
37	chr18:43676600-43678600	Active TSS	Brain Hippocampus Middle	brain
38	chr18:43676600-43678600	Active TSS	Colon Smooth Muscle	Colon
39	chr18:43676600-43678600	Active TSS	Duodenum Mucosa	Duodenum
40	chr18:43676600-43678600	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr18:43676600-43678600	Active TSS	Fetal Intestine Small	intestine
42	chr18:43676600-43678600	Active TSS	A549	lung
43	chr18:43676600-43678600	Active TSS	NHDF-Ad	bronchial
44	chr18:43676600-43678800	Active TSS	H9 Cell Line	embryonic stem cell
45	chr18:43676600-43678800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr18:43676600-43678800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr18:43676600-43678800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr18:43676600-43678800	Active TSS	Lung	lung
49	chr18:43676600-43678800	Active TSS	Ovary	ovary
50	chr18:43676600-43679200	Active TSS	Fetal Kidney	kidney

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