Variant report

Variant	rs8082894
Chromosome Location	chr18:8379089-8379090
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:8376327..8379347-chr18:8381176..8383622,3	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs586931	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs607017	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs628891	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs656068	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv458018	chr18:8110805-8645907	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv576426	chr18:8110805-8645907	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	esv3351324	chr18:8250514-8405140	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1058445	chr18:8270681-8421249	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv909361	chr18:8364598-8446393	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8367600-8380800	Weak transcription	NH-A	brain
2	chr18:8367600-8394600	Weak transcription	Small Intestine	intestine
3	chr18:8367800-8379400	Weak transcription	Psoas Muscle	Psoas
4	chr18:8367800-8380200	Weak transcription	Liver	Liver
5	chr18:8367800-8380200	Weak transcription	HSMM	muscle
6	chr18:8367800-8381400	Weak transcription	Brain Substantia Nigra	brain
7	chr18:8367800-8382000	Weak transcription	Brain Germinal Matrix	brain
8	chr18:8367800-8382200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr18:8367800-8385400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr18:8367800-8398600	Weak transcription	NHLF	lung
11	chr18:8368000-8394600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr18:8368000-8409000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr18:8369000-8388000	Weak transcription	Fetal Heart	heart
14	chr18:8369200-8379200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr18:8369800-8379600	Weak transcription	HSMMtube	muscle
16	chr18:8372000-8408800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr18:8373400-8394400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr18:8374000-8381400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr18:8374000-8384400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr18:8374400-8380600	Weak transcription	Osteobl	bone
21	chr18:8374800-8408800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr18:8375200-8381200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr18:8375400-8380800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr18:8375400-8381000	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr18:8375400-8381000	Strong transcription	Stomach Smooth Muscle	stomach
26	chr18:8375400-8381800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr18:8375600-8380800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr18:8375600-8408600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr18:8376000-8380400	Weak transcription	Fetal Lung	lung
30	chr18:8376000-8389600	Weak transcription	Fetal Kidney	kidney
31	chr18:8376000-8397000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr18:8376400-8381000	Strong transcription	Right Ventricle	heart
33	chr18:8376400-8382200	Weak transcription	Fetal Brain Male	brain
34	chr18:8377000-8380800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr18:8377200-8380600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr18:8377200-8397200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr18:8377400-8394400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr18:8377600-8386800	Weak transcription	NHDF-Ad	bronchial
39	chr18:8377800-8380400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr18:8377800-8381000	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr18:8377800-8382800	Strong transcription	Left Ventricle	heart
42	chr18:8378000-8379200	Strong transcription	Aorta	Aorta
43	chr18:8378000-8379400	Strong transcription	Fetal Brain Female	brain
44	chr18:8378000-8379600	Strong transcription	Brain Hippocampus Middle	brain
45	chr18:8378000-8379600	Strong transcription	A549	lung
46	chr18:8378000-8380400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr18:8378000-8380600	Strong transcription	Fetal Intestine Large	intestine
48	chr18:8378000-8381000	Strong transcription	Ovary	ovary
49	chr18:8378000-8381000	Strong transcription	Pancreas	Pancrea
50	chr18:8378200-8379400	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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