Variant report

Variant	rs73942020
Chromosome Location	chr18:8662627-8662628
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:8656592..8659415-chr18:8661915..8663898,2	K562	blood:
2	chr18:8661421..8663171-chr18:8666380..8669348,2	MCF-7	breast:
3	chr18:8657777..8659380-chr18:8662029..8663549,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11875412	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12457570	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12458130	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1861950	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34440925	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34487798	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34965651	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35737373	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs480896	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs510525	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs516586	0.93[EUR][1000 genomes]
rs526313	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs539715	0.82[ASN][1000 genomes]
rs573508	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs577048	0.96[EUR][1000 genomes]
rs58194828	0.93[EUR][1000 genomes]
rs598417	0.88[ASN][1000 genomes]
rs629299	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs629738	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs642212	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73392590	0.81[EUR][1000 genomes]
rs73392592	0.93[EUR][1000 genomes]
rs8091166	0.97[EUR][1000 genomes];0.88[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	nsv2200	chr18:8618182-8663130	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8653800-8703400	Weak transcription	Right Atrium	heart
2	chr18:8658400-8665200	Weak transcription	A549	lung
3	chr18:8659000-8663800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr18:8660600-8663600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr18:8661000-8664000	Enhancers	H1 Cell Line	embryonic stem cell
6	chr18:8661400-8662800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr18:8661800-8662800	Flanking Active TSS	Fetal Brain Female	brain
8	chr18:8661800-8663000	Enhancers	Duodenum Mucosa	Duodenum
9	chr18:8661800-8663400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr18:8661800-8663800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr18:8661800-8664000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr18:8662000-8663600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr18:8662000-8664000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr18:8662000-8665000	Weak transcription	Hela-S3	cervix
15	chr18:8662200-8663000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr18:8662200-8663200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr18:8662200-8663600	Enhancers	Fetal Brain Male	brain
18	chr18:8662200-8663800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr18:8662200-8664800	Weak transcription	HMEC	breast
20	chr18:8662200-8665000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr18:8662200-8665000	Weak transcription	NHLF	lung
22	chr18:8662200-8665200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr18:8662200-8665200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr18:8662200-8665200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr18:8662200-8665200	Weak transcription	NH-A	brain
26	chr18:8662200-8665400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr18:8662200-8673400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr18:8662400-8663200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr18:8662400-8663400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr18:8662400-8663400	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr18:8662400-8663600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr18:8662400-8663800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr18:8662400-8664000	Enhancers	H9 Cell Line	embryonic stem cell
34	chr18:8662400-8664000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr18:8662400-8664000	Enhancers	Brain Germinal Matrix	brain
36	chr18:8662400-8665000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr18:8662400-8665000	Weak transcription	HUVEC	blood vessel
38	chr18:8662400-8665000	Weak transcription	K562	blood
39	chr18:8662400-8665000	Weak transcription	NHEK	skin
40	chr18:8662400-8665200	Weak transcription	NHDF-Ad	bronchial
41	chr18:8662600-8662800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr18:8662600-8662800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
43	chr18:8662600-8662800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr18:8662600-8662800	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
45	chr18:8662600-8663000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr18:8662600-8664000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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