Variant report

Variant	rs61031739
Chromosome Location	chr18:45689717-45689718
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:45680562..45685568-chr18:45685976..45689929,7	MCF-7	breast:
2	chr14:39900899..39901452-chr18:45689371..45689979,2	Hela-S3	cervix:
3	chr18:45686791..45690423-chr18:45708029..45713174,4	MCF-7	breast:
4	chr18:45667202..45669111-chr18:45687952..45689852,2	MCF-7	breast:
5	chr18:45688292..45689799-chr18:45738881..45741560,2	MCF-7	breast:
6	chr18:45687841..45689845-chr18:45747835..45750827,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165355	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11082658	0.89[AFR][1000 genomes]
rs11660174	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11660636	0.81[AMR][1000 genomes]
rs11663233	0.81[AMR][1000 genomes]
rs11664214	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4940291	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4940298	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7238859	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72922114	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72922118	0.81[AMR][1000 genomes]
rs72922129	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72922145	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9973062	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9973065	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45688400-45699200	Enhancers	Spleen	Spleen
2	chr18:45688600-45689800	Enhancers	Brain Substantia Nigra	brain
3	chr18:45688600-45691400	Enhancers	HSMMtube	muscle
4	chr18:45688600-45692400	Enhancers	Fetal Kidney	kidney
5	chr18:45688600-45693200	Weak transcription	Psoas Muscle	Psoas
6	chr18:45688800-45689800	Enhancers	Placenta Amnion	Placenta Amnion
7	chr18:45688800-45689800	Weak transcription	Right Atrium	heart
8	chr18:45688800-45690000	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr18:45688800-45690000	Enhancers	Gastric	stomach
10	chr18:45688800-45690000	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr18:45688800-45690200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr18:45688800-45690200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr18:45688800-45690400	Enhancers	Right Ventricle	heart
14	chr18:45688800-45691000	Enhancers	Fetal Muscle Trunk	muscle
15	chr18:45688800-45691200	Weak transcription	Primary B cells from cord blood	blood
16	chr18:45688800-45691200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr18:45688800-45691400	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr18:45688800-45691600	Weak transcription	Esophagus	oesophagus
19	chr18:45688800-45691600	Weak transcription	Left Ventricle	heart
20	chr18:45688800-45691600	Weak transcription	Lung	lung
21	chr18:45688800-45691600	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr18:45688800-45692000	Enhancers	Fetal Stomach	stomach
23	chr18:45688800-45692200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr18:45688800-45692200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr18:45688800-45692800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr18:45688800-45692800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr18:45688800-45693000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr18:45688800-45693200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr18:45688800-45693200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr18:45688800-45693200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr18:45688800-45693400	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr18:45688800-45694800	Enhancers	Fetal Muscle Leg	muscle
33	chr18:45688800-45695600	Enhancers	Placenta	Placenta
34	chr18:45688800-45696600	Enhancers	Fetal Intestine Small	intestine
35	chr18:45688800-45696800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr18:45688800-45697000	Enhancers	Fetal Intestine Large	intestine
37	chr18:45688800-45697000	Enhancers	Ovary	ovary
38	chr18:45689000-45690400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr18:45689000-45690400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr18:45689000-45691000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr18:45689000-45691200	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr18:45689000-45691200	Weak transcription	Adipose Nuclei	Adipose
43	chr18:45689000-45691400	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr18:45689000-45691600	Weak transcription	Liver	Liver
45	chr18:45689000-45692400	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr18:45689000-45692600	Enhancers	Fetal Lung	lung
47	chr18:45689000-45693000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr18:45689000-45693200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr18:45689000-45693600	Enhancers	Stomach Mucosa	stomach
50	chr18:45689000-45693800	Weak transcription	Brain Hippocampus Middle	brain

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