Variant report

Variant	rs7243964
Chromosome Location	chr18:29931688-29931689
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29930256..29933123-chr18:29933358..29935857,3	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1037753	0.80[ASN][1000 genomes]
rs11081761	0.84[EUR][1000 genomes]
rs11665147	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11665150	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11665190	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11873319	0.81[ASN][1000 genomes]
rs13381344	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16963233	0.81[ASN][1000 genomes]
rs16963270	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16963289	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1964517	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2034968	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41527551	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56808255	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57978863	0.80[EUR][1000 genomes]
rs60451418	0.82[EUR][1000 genomes]
rs7226639	0.90[ASN][1000 genomes]
rs7227973	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs753784	0.81[ASN][1000 genomes]
rs8085211	0.81[ASN][1000 genomes]
rs8097263	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs968099	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][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	nsv833616	chr18:29792336-29964212	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29921600-29938200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:29924200-29936800	Weak transcription	Pancreas	Pancrea
3	chr18:29924200-29937000	Weak transcription	Left Ventricle	heart
4	chr18:29926800-29951000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr18:29927200-29936800	Weak transcription	Psoas Muscle	Psoas
6	chr18:29927800-29938200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr18:29928200-29932000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr18:29928800-29933000	Enhancers	Colon Smooth Muscle	Colon
9	chr18:29929000-29932400	Enhancers	Rectal Smooth Muscle	rectum
10	chr18:29929000-29933600	Enhancers	Fetal Kidney	kidney
11	chr18:29930000-29938200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr18:29930000-29938400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr18:29930000-29939600	Weak transcription	Fetal Stomach	stomach
14	chr18:29930000-29947600	Weak transcription	Esophagus	oesophagus
15	chr18:29930200-29932200	Weak transcription	Ovary	ovary
16	chr18:29930200-29933600	Enhancers	Stomach Mucosa	stomach
17	chr18:29930200-29934400	Weak transcription	Right Ventricle	heart
18	chr18:29930200-29937000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr18:29930200-29945400	Weak transcription	Fetal Intestine Small	intestine
20	chr18:29930200-29945600	Weak transcription	Fetal Intestine Large	intestine
21	chr18:29930200-29953600	Weak transcription	Fetal Muscle Leg	muscle
22	chr18:29930400-29932800	Weak transcription	HepG2	liver
23	chr18:29930400-29934400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr18:29930400-29935400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr18:29930800-29932200	Weak transcription	Brain Anterior Caudate	brain
26	chr18:29930800-29934400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr18:29930800-29934400	Weak transcription	Aorta	Aorta
28	chr18:29930800-29935800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr18:29931200-29932800	Weak transcription	A549	lung
30	chr18:29931200-29934400	Weak transcription	Fetal Heart	heart
31	chr18:29931200-29935600	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr18:29931200-29936200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr18:29931200-29936200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr18:29931200-29948000	Weak transcription	Brain Angular Gyrus	brain
35	chr18:29931400-29932000	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr18:29931400-29932400	Weak transcription	Brain Hippocampus Middle	brain
37	chr18:29931400-29935600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr18:29931400-29935800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr18:29931400-29940400	Weak transcription	Brain Substantia Nigra	brain
40	chr18:29931600-29932000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr18:29931600-29932200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr18:29931600-29935400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr18:29931600-29935400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr18:29931600-29935800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr18:29931600-29935800	Weak transcription	NH-A	brain
46	chr18:29931600-29936200	Weak transcription	NHDF-Ad	bronchial
47	chr18:29931600-29937400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr18:29931600-29942000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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