Variant report

Variant	rs73939469
Chromosome Location	chr18:8379892-8379893
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs28580336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28639718	1.00[AMR][1000 genomes]
rs55909373	1.00[AMR][1000 genomes]
rs7240861	1.00[AMR][1000 genomes]
rs73939467	1.00[AMR][1000 genomes]
rs73939468	1.00[AMR][1000 genomes]
rs8098506	1.00[AMR][1000 genomes]
rs9948335	1.00[AMR][1000 genomes]
rs9950404	1.00[AMR][1000 genomes]
rs9959014	1.00[AMR][1000 genomes]
rs9960037	1.00[AMR][1000 genomes]
rs9962525	1.00[AMR][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	chr18:8367800-8380200	Weak transcription	Liver	Liver
4	chr18:8367800-8380200	Weak transcription	HSMM	muscle
5	chr18:8367800-8381400	Weak transcription	Brain Substantia Nigra	brain
6	chr18:8367800-8382000	Weak transcription	Brain Germinal Matrix	brain
7	chr18:8367800-8382200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr18:8367800-8385400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr18:8367800-8398600	Weak transcription	NHLF	lung
10	chr18:8368000-8394600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr18:8368000-8409000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr18:8369000-8388000	Weak transcription	Fetal Heart	heart
13	chr18:8372000-8408800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr18:8373400-8394400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr18:8374000-8381400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr18:8374000-8384400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr18:8374400-8380600	Weak transcription	Osteobl	bone
18	chr18:8374800-8408800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr18:8375200-8381200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr18:8375400-8380800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr18:8375400-8381000	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr18:8375400-8381000	Strong transcription	Stomach Smooth Muscle	stomach
23	chr18:8375400-8381800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr18:8375600-8380800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr18:8375600-8408600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr18:8376000-8380400	Weak transcription	Fetal Lung	lung
27	chr18:8376000-8389600	Weak transcription	Fetal Kidney	kidney
28	chr18:8376000-8397000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr18:8376400-8381000	Strong transcription	Right Ventricle	heart
30	chr18:8376400-8382200	Weak transcription	Fetal Brain Male	brain
31	chr18:8377000-8380800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr18:8377200-8380600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr18:8377200-8397200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr18:8377400-8394400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr18:8377600-8386800	Weak transcription	NHDF-Ad	bronchial
36	chr18:8377800-8380400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr18:8377800-8381000	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr18:8377800-8382800	Strong transcription	Left Ventricle	heart
39	chr18:8378000-8380400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr18:8378000-8380600	Strong transcription	Fetal Intestine Large	intestine
41	chr18:8378000-8381000	Strong transcription	Ovary	ovary
42	chr18:8378000-8381000	Strong transcription	Pancreas	Pancrea
43	chr18:8378200-8380000	Strong transcription	Colon Smooth Muscle	Colon
44	chr18:8378200-8380600	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr18:8378200-8380600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr18:8378200-8380800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr18:8378200-8380800	Strong transcription	Spleen	Spleen
48	chr18:8378200-8381000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr18:8378200-8381000	Strong transcription	Fetal Muscle Trunk	muscle
50	chr18:8378200-8381000	Strong transcription	Fetal Muscle Leg	muscle

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