Variant report

Variant	rs73939839
Chromosome Location	chr18:9403928-9403929
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9403620..9407006-chr18:9414651..9419488,7	K562	blood:
2	chr18:9403556..9405805-chr18:9474208..9475732,2	K562	blood:
3	chr18:9333321..9335278-chr18:9403311..9405898,2	K562	blood:
4	chr18:9403357..9405145-chr18:9454167..9455721,2	K562	blood:
5	chr18:9401819..9404534-chr18:9474029..9476633,3	MCF-7	breast:
6	chr18:9403602..9406449-chr18:9432221..9434991,2	K562	blood:
7	chr18:9402400..9404038-chr18:9411064..9413182,2	K562	blood:

Variant related genes	Relation type
ENSG00000264964	Chromatin interaction
ENSG00000128791	Chromatin interaction
ENSG00000017797	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11081476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1507610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1507611	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1605475	1.00[AMR][1000 genomes]
rs2864492	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2864496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4239338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4239339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56215503	1.00[AMR][1000 genomes]
rs60060452	1.00[AMR][1000 genomes]
rs6506657	1.00[AMR][1000 genomes]
rs6506658	1.00[AMR][1000 genomes]
rs6506662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7236178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7359718	1.00[AMR][1000 genomes]
rs73939838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73939850	1.00[AMR][1000 genomes]
rs73939851	1.00[AMR][1000 genomes]
rs8085686	1.00[AMR][1000 genomes]
rs8090712	1.00[AMR][1000 genomes]
rs8098555	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9963504	1.00[AFR][1000 genomes];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	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1056407	chr18:9144345-9553764	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1062025	chr18:9287249-9552470	Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv543643	chr18:9287249-9552470	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv833585	chr18:9401630-9597291	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv428005	chr18:9401658-9542396	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9344400-9404200	Weak transcription	Primary T cells from cord blood	blood
2	chr18:9364800-9409400	Weak transcription	Aorta	Aorta
3	chr18:9366600-9406000	Weak transcription	Esophagus	oesophagus
4	chr18:9381400-9404600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr18:9388600-9404200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr18:9388800-9413200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr18:9389400-9405400	Weak transcription	Lung	lung
8	chr18:9390400-9404400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr18:9390800-9404800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr18:9391400-9404800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr18:9392200-9404400	Weak transcription	Adipose Nuclei	Adipose
12	chr18:9392400-9404600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr18:9392400-9404600	Weak transcription	Brain Hippocampus Middle	brain
14	chr18:9393200-9411400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr18:9393400-9407600	Weak transcription	Brain Germinal Matrix	brain
16	chr18:9393600-9404000	Weak transcription	Primary B cells from cord blood	blood
17	chr18:9395000-9405600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr18:9395400-9404200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr18:9395400-9404400	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr18:9395600-9406000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr18:9396600-9413800	Weak transcription	NH-A	brain
22	chr18:9396800-9404200	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr18:9397200-9413600	Weak transcription	HSMMtube	muscle
24	chr18:9397200-9416800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr18:9397400-9406400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr18:9397600-9404600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr18:9397800-9416600	Weak transcription	HSMM	muscle
28	chr18:9398400-9404400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr18:9399000-9404400	Weak transcription	Right Atrium	heart
30	chr18:9399200-9404800	Weak transcription	Ovary	ovary
31	chr18:9399600-9413600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr18:9400600-9404000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr18:9400600-9413400	Weak transcription	Osteobl	bone
34	chr18:9400600-9416600	Weak transcription	Brain Anterior Caudate	brain
35	chr18:9400800-9408800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr18:9401000-9408600	Weak transcription	NHEK	skin
37	chr18:9401400-9406000	Weak transcription	Brain Substantia Nigra	brain
38	chr18:9401400-9413800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr18:9401600-9413600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr18:9402400-9404000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr18:9402600-9404000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr18:9402600-9404000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr18:9402600-9404000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr18:9402600-9404000	Strong transcription	Fetal Muscle Leg	muscle
45	chr18:9403000-9406400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr18:9403200-9404800	Weak transcription	Fetal Brain Female	brain
47	chr18:9403200-9405200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr18:9403200-9405200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr18:9403200-9408400	Weak transcription	Stomach Smooth Muscle	stomach
50	chr18:9403400-9404000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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