Variant report

Variant	rs4331136
Chromosome Location	chr18:45531028-45531029
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:45529545..45532435-chr18:45532709..45536356,5	MCF-7	breast:
2	chr18:45457609..45458225-chr18:45530268..45531251,3	Hela-S3	cervix:
3	chr18:45455940..45458725-chr18:45529487..45533323,5	MCF-7	breast:
4	chr11:62622848..62623539-chr18:45530639..45531437,2	Hela-S3	cervix:
5	chr18:45528601..45531772-chr18:45533301..45535605,3	K562	blood:
6	chr18:45529640..45533731-chr18:45547574..45549695,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168003	Chromatin interaction
ENSG00000175387	Chromatin interaction
ENSG00000255717	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs13382003	1.00[ASN][1000 genomes]
rs28594148	1.00[ASN][1000 genomes]
rs28637555	1.00[ASN][1000 genomes]
rs4328241	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4329718	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4341811	1.00[ASN][1000 genomes]
rs4401107	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4603334	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4623931	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56055402	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58746990	1.00[ASN][1000 genomes]
rs60118920	1.00[ASN][1000 genomes]
rs7227917	1.00[ASN][1000 genomes]
rs7228052	1.00[ASN][1000 genomes]
rs7242462	1.00[ASN][1000 genomes]
rs72916011	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72916012	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72916016	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72916027	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72916029	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72916032	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72916034	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72916036	0.94[EUR][1000 genomes]
rs72916048	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72916073	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72916076	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72916077	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72916085	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72916088	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72916089	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72916090	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72916093	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9950457	1.00[ASN][1000 genomes]
rs9950557	1.00[ASN][1000 genomes]
rs9957725	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909616	chr18:45467806-45844500	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1066479	chr18:45505569-45554507	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1055669	chr18:45513090-45559375	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45525200-45531200	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr18:45528400-45531200	Enhancers	Placenta	Placenta
3	chr18:45528600-45531400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr18:45528800-45531200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr18:45529000-45531200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr18:45529000-45531200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr18:45529000-45531200	Enhancers	Fetal Muscle Leg	muscle
8	chr18:45529000-45531200	Enhancers	HUVEC	blood vessel
9	chr18:45529000-45531400	Enhancers	Dnd41	blood
10	chr18:45529200-45531200	Enhancers	Right Atrium	heart
11	chr18:45529200-45531200	Enhancers	HSMM	muscle
12	chr18:45529200-45531400	Enhancers	Fetal Thymus	thymus
13	chr18:45529200-45531400	Enhancers	HMEC	breast
14	chr18:45529400-45532800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr18:45529400-45533000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr18:45529600-45531200	Enhancers	Thymus	Thymus
17	chr18:45529600-45533000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr18:45530000-45531200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr18:45530200-45531200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr18:45530400-45534200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr18:45530400-45534200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr18:45530400-45534200	Weak transcription	Psoas Muscle	Psoas
23	chr18:45530400-45534400	Weak transcription	Aorta	Aorta
24	chr18:45530400-45534400	Weak transcription	Fetal Heart	heart
25	chr18:45530600-45532800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr18:45530600-45534000	Weak transcription	Adipose Nuclei	Adipose
27	chr18:45530600-45534000	Weak transcription	Fetal Kidney	kidney
28	chr18:45530600-45534000	Weak transcription	Left Ventricle	heart
29	chr18:45530600-45534000	Weak transcription	Lung	lung
30	chr18:45530600-45534200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr18:45530600-45534200	Weak transcription	Stomach Mucosa	stomach
32	chr18:45530600-45534400	Weak transcription	Gastric	stomach
33	chr18:45530600-45534400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr18:45530600-45534400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr18:45530800-45531200	Enhancers	Primary hematopoietic stem cells	blood
36	chr18:45530800-45531200	Enhancers	Small Intestine	intestine
37	chr18:45530800-45533000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr18:45530800-45533200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr18:45530800-45533800	Weak transcription	Spleen	Spleen
40	chr18:45530800-45534000	Weak transcription	Pancreas	Pancrea
41	chr18:45530800-45534000	Weak transcription	Right Ventricle	heart
42	chr18:45530800-45534000	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr18:45530800-45534200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr18:45530800-45534200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr18:45530800-45534200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr18:45531000-45531200	Enhancers	A549	lung
47	chr18:45531000-45534000	Weak transcription	NH-A	brain
48	chr18:45531000-45534200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr18:45531000-45534200	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr18:45531000-45534200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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