Variant report

Variant	rs73419588
Chromosome Location	chr18:13138452-13138453
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:13138041..13140192-chr18:13216726..13219205,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168675	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10163954	1.00[AFR][1000 genomes]
rs10164085	1.00[AFR][1000 genomes]
rs11080632	1.00[AFR][1000 genomes]
rs13353247	1.00[AFR][1000 genomes]
rs56959689	1.00[AFR][1000 genomes]
rs57752549	1.00[AFR][1000 genomes]
rs57866497	1.00[AFR][1000 genomes]
rs58158055	1.00[AFR][1000 genomes]
rs59012368	1.00[AFR][1000 genomes]
rs60014900	1.00[AFR][1000 genomes]
rs60698667	1.00[AFR][1000 genomes]
rs60877184	1.00[AFR][1000 genomes]
rs73404604	1.00[AFR][1000 genomes]
rs73404609	1.00[AFR][1000 genomes]
rs73404610	1.00[AFR][1000 genomes]
rs73404613	1.00[AFR][1000 genomes]
rs73404648	1.00[AFR][1000 genomes]
rs73404654	1.00[AFR][1000 genomes]
rs73419560	1.00[AFR][1000 genomes]
rs73419561	1.00[AFR][1000 genomes]
rs73419573	1.00[AFR][1000 genomes]
rs73419577	1.00[AFR][1000 genomes]
rs73419580	1.00[AFR][1000 genomes]
rs73419585	1.00[AFR][1000 genomes]
rs73419592	1.00[AFR][1000 genomes]
rs73419594	1.00[AFR][1000 genomes]
rs73419596	1.00[AFR][1000 genomes]
rs73419598	1.00[AFR][1000 genomes]
rs73419600	1.00[AFR][1000 genomes]
rs73421667	1.00[AFR][1000 genomes]
rs9303780	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv1057083	chr18:12916779-13207538	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats 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	46 gene(s)	inside rSNPs	diseases
4	nsv576524	chr18:12918318-13183609	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1056593	chr18:12926314-13183383	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv1064364	chr18:12926314-13207686	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv833591	chr18:13093777-13253748	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv515878	chr18:13122618-13142415	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv909408	chr18:13122618-13308950	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	esv3388823	chr18:13135977-13138825	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13135800-13138600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr18:13135800-13138800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr18:13136200-13138800	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr18:13136400-13138600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr18:13136400-13138600	Active TSS	Brain Anterior Caudate	brain
6	chr18:13136400-13145800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr18:13136600-13138600	Active TSS	Duodenum Mucosa	Duodenum
8	chr18:13136800-13138600	Active TSS	A549	lung
9	chr18:13137000-13138600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
10	chr18:13137400-13138600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
11	chr18:13137600-13138600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
12	chr18:13137600-13138600	Flanking Active TSS	Primary T cells from cord blood	blood
13	chr18:13137600-13138600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr18:13137600-13138600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
15	chr18:13137600-13139000	Bivalent/Poised TSS	HepG2	liver
16	chr18:13137800-13138600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
17	chr18:13137800-13138600	Active TSS	Osteobl	bone
18	chr18:13137800-13139000	Active TSS	Rectal Mucosa Donor 31	rectum
19	chr18:13138000-13138600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
20	chr18:13138000-13138600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr18:13138000-13138800	Enhancers	Spleen	Spleen
22	chr18:13138000-13142800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr18:13138000-13144200	Weak transcription	Pancreas	Pancrea
24	chr18:13138000-13144200	Weak transcription	Psoas Muscle	Psoas
25	chr18:13138200-13138600	Enhancers	Gastric	stomach
26	chr18:13138200-13138600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
27	chr18:13138200-13138600	Flanking Active TSS	GM12878-XiMat	blood
28	chr18:13138200-13138800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr18:13138200-13138800	Enhancers	Lung	lung
30	chr18:13138200-13138800	Enhancers	Thymus	Thymus
31	chr18:13138200-13138800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr18:13138200-13139000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr18:13138200-13139600	Enhancers	Fetal Thymus	thymus
34	chr18:13138400-13138600	Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr18:13138400-13138600	Enhancers	Primary B cells from cord blood	blood
36	chr18:13138400-13138600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr18:13138400-13138600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr18:13138400-13138600	Flanking Active TSS	Liver	Liver
39	chr18:13138400-13138600	Enhancers	Ovary	ovary
40	chr18:13138400-13138600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
41	chr18:13138400-13138800	Enhancers	Primary B cells from peripheral blood	blood
42	chr18:13138400-13138800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr18:13138400-13138800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr18:13138400-13138800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr18:13138400-13138800	Enhancers	Placenta	Placenta
46	chr18:13138400-13139000	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr18:13138400-13139000	Flanking Active TSS	Colonic Mucosa	Colon
48	chr18:13138400-13139200	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr18:13138400-13139400	Flanking Active TSS	Dnd41	blood

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