Variant report

Variant	rs73438301
Chromosome Location	chr18:43650317-43650318
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:43642172..43644592-chr18:43648279..43650859,2	MCF-7	breast:
2	chr18:43649084..43651294-chr18:43664772..43667437,2	K562	blood:
3	chr18:43578214..43579999-chr18:43649262..43651951,2	K562	blood:
4	chr18:43647683..43650654-chr18:43651658..43653260,2	K562	blood:

Variant related genes	Relation type
ENSG00000152229	Chromatin interaction
ENSG00000152234	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs2289264	1.00[ASN][1000 genomes]
rs28391547	1.00[ASN][1000 genomes]
rs28432272	1.00[ASN][1000 genomes]
rs28457629	1.00[ASN][1000 genomes]
rs28528989	1.00[ASN][1000 genomes]
rs28642893	1.00[ASN][1000 genomes]
rs72903445	1.00[ASN][1000 genomes]
rs72903447	1.00[ASN][1000 genomes]
rs72903448	1.00[ASN][1000 genomes]
rs72903449	1.00[ASN][1000 genomes]
rs72903452	1.00[ASN][1000 genomes]
rs8084445	1.00[ASN][1000 genomes]
rs8095711	1.00[ASN][1000 genomes]
rs8098010	1.00[ASN][1000 genomes]
rs9944600	1.00[ASN][1000 genomes]
rs9951642	1.00[ASN][1000 genomes]
rs9954430	1.00[ASN][1000 genomes]
rs9957650	1.00[ASN][1000 genomes]
rs9964286	1.00[ASN][1000 genomes]
rs9965475	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064882	chr18:43558343-43687674	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv543693	chr18:43558343-43687674	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1062024	chr18:43589516-43749410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv543694	chr18:43589516-43749410	Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43608600-43651000	Weak transcription	Esophagus	oesophagus
2	chr18:43632400-43651200	Weak transcription	Pancreas	Pancrea
3	chr18:43633200-43651200	Weak transcription	HSMMtube	muscle
4	chr18:43640800-43650400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr18:43641000-43650800	Weak transcription	Fetal Intestine Small	intestine
6	chr18:43642200-43651000	Weak transcription	Gastric	stomach
7	chr18:43642400-43651200	Weak transcription	Lung	lung
8	chr18:43645200-43650800	Weak transcription	Osteobl	bone
9	chr18:43646200-43650800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr18:43646800-43650800	Weak transcription	Spleen	Spleen
11	chr18:43647600-43651000	Weak transcription	Primary T cells from cord blood	blood
12	chr18:43647800-43650800	Weak transcription	Colon Smooth Muscle	Colon
13	chr18:43648000-43650800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr18:43648000-43651600	Weak transcription	Hela-S3	cervix
15	chr18:43648400-43651000	Enhancers	Liver	Liver
16	chr18:43648600-43651000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr18:43648800-43650400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr18:43648800-43650600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr18:43648800-43650800	Enhancers	Primary T cells fromperipheralblood	blood
20	chr18:43648800-43650800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr18:43648800-43650800	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr18:43648800-43651000	Enhancers	GM12878-XiMat	blood
23	chr18:43649000-43650400	Flanking Active TSS	NHEK	skin
24	chr18:43649000-43651000	Enhancers	Placenta	Placenta
25	chr18:43649000-43651200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr18:43649000-43651400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr18:43649200-43650800	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr18:43649200-43650800	Weak transcription	Adipose Nuclei	Adipose
29	chr18:43649200-43650800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr18:43649200-43651000	Weak transcription	Fetal Intestine Large	intestine
31	chr18:43649200-43651000	Weak transcription	NH-A	brain
32	chr18:43649200-43651000	Weak transcription	NHDF-Ad	bronchial
33	chr18:43649200-43651400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr18:43649200-43651400	Weak transcription	Left Ventricle	heart
35	chr18:43649400-43650400	Weak transcription	K562	blood
36	chr18:43649400-43650600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr18:43649600-43650600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr18:43649600-43650600	Enhancers	HMEC	breast
39	chr18:43649600-43650800	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr18:43649600-43650800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr18:43649600-43651200	Weak transcription	HUVEC	blood vessel
42	chr18:43649800-43650600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr18:43649800-43650800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr18:43649800-43650800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr18:43649800-43651000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr18:43650000-43650600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr18:43650000-43650600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr18:43650000-43650800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr18:43650000-43650800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr18:43650000-43650800	Enhancers	Primary hematopoietic stem cells	blood

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