Variant report

Variant	rs73954971
Chromosome Location	chr18:29624673-29624674
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10502580	1.00[EUR][1000 genomes]
rs10502581	1.00[EUR][1000 genomes]
rs11874448	1.00[EUR][1000 genomes]
rs55673393	1.00[EUR][1000 genomes]
rs56403688	1.00[EUR][1000 genomes]
rs57172349	1.00[EUR][1000 genomes]
rs57264191	1.00[EUR][1000 genomes]
rs57412069	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57807662	1.00[EUR][1000 genomes]
rs58115302	1.00[EUR][1000 genomes]
rs59424188	1.00[EUR][1000 genomes]
rs59939125	1.00[EUR][1000 genomes]
rs60448569	1.00[EUR][1000 genomes]
rs60790636	1.00[EUR][1000 genomes]
rs60933882	1.00[EUR][1000 genomes]
rs61038301	1.00[EUR][1000 genomes]
rs61499404	1.00[EUR][1000 genomes]
rs61628852	1.00[EUR][1000 genomes]
rs73954976	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73954980	1.00[EUR][1000 genomes]
rs73954986	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73954988	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1803283	chr18:29591102-29640430	Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
2	nsv1061305	chr18:29609935-29664528	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29599600-29629600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr18:29600600-29628400	Weak transcription	Hela-S3	cervix
3	chr18:29600800-29632400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr18:29602600-29628600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr18:29602600-29664200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr18:29604600-29656000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr18:29606800-29637000	Weak transcription	Brain Anterior Caudate	brain
8	chr18:29609800-29628600	Weak transcription	Small Intestine	intestine
9	chr18:29611600-29628800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr18:29611800-29629000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr18:29613000-29627000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr18:29615200-29648400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr18:29615800-29628400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr18:29616000-29640200	Weak transcription	Esophagus	oesophagus
15	chr18:29616200-29628800	Weak transcription	Gastric	stomach
16	chr18:29617200-29629600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr18:29618000-29628800	Weak transcription	Left Ventricle	heart
18	chr18:29618000-29629000	Weak transcription	Lung	lung
19	chr18:29618400-29639800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr18:29618400-29646800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr18:29618600-29628200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr18:29618600-29628600	Weak transcription	Spleen	Spleen
23	chr18:29618600-29642800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr18:29619400-29625600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr18:29619400-29645400	Weak transcription	Fetal Stomach	stomach
26	chr18:29620000-29625800	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr18:29620400-29625000	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr18:29620600-29626600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr18:29621200-29628800	Weak transcription	Thymus	Thymus
30	chr18:29621400-29628400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr18:29621400-29628600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr18:29621400-29628600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr18:29621400-29628600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr18:29621400-29628800	Weak transcription	Brain Hippocampus Middle	brain
35	chr18:29621400-29628800	Weak transcription	Brain Substantia Nigra	brain
36	chr18:29621600-29626600	Weak transcription	Duodenum Mucosa	Duodenum
37	chr18:29621800-29626200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr18:29622000-29626200	Strong transcription	Fetal Thymus	thymus
39	chr18:29622400-29626200	Strong transcription	Liver	Liver
40	chr18:29622800-29624800	Enhancers	Primary hematopoietic stem cells	blood
41	chr18:29622800-29627000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr18:29622800-29639800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr18:29623200-29624800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr18:29623200-29627800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr18:29623400-29624800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr18:29623400-29625600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr18:29623400-29625600	Weak transcription	Adipose Nuclei	Adipose
48	chr18:29623400-29625800	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr18:29623400-29628200	Weak transcription	Primary B cells from peripheral blood	blood
50	chr18:29623400-29628400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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