Variant report

Variant	rs72875406
Chromosome Location	chr18:12018809-12018810
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:12017282..12018907-chr18:12020565..12022522,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17593321	0.89[ASN][1000 genomes]
rs45459505	1.00[ASN][1000 genomes]
rs62099914	0.89[ASN][1000 genomes]
rs62099915	0.89[ASN][1000 genomes]
rs6505707	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7234365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8084851	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs8097058	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	esv2758470	chr18:11897023-12076102	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	esv2758713	chr18:11897023-12076102	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Strong transcription 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	35 gene(s)	inside rSNPs	diseases
5	nsv909384	chr18:11907374-12101109	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
6	nsv909386	chr18:11938102-12095950	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	nsv909388	chr18:11987988-12141372	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv909389	chr18:11987988-12141625	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv909390	chr18:11987988-12155371	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv528699	chr18:11989416-12029857	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv909391	chr18:11989416-12146408	Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	nsv909392	chr18:11989416-12146698	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
13	nsv909393	chr18:12001258-12155371	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv909394	chr18:12017343-12141372	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11982600-12028600	Weak transcription	Small Intestine	intestine
2	chr18:11996600-12035000	Weak transcription	Primary T cells from cord blood	blood
3	chr18:11996800-12034400	Weak transcription	Primary B cells from cord blood	blood
4	chr18:11997000-12034400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr18:11998400-12034000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr18:11998800-12029400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr18:11999000-12019200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr18:11999000-12019400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr18:11999000-12019400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr18:11999000-12034000	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr18:11999000-12035400	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr18:11999200-12035800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr18:12002000-12028400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr18:12003600-12025600	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr18:12003600-12027000	Strong transcription	Placenta	Placenta
16	chr18:12010200-12026600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr18:12013600-12021400	Weak transcription	A549	lung
18	chr18:12014400-12026800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr18:12015000-12028400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr18:12015200-12026600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr18:12015200-12028400	Weak transcription	Thymus	Thymus
22	chr18:12015600-12021200	Weak transcription	Gastric	stomach
23	chr18:12015600-12028000	Weak transcription	Colonic Mucosa	Colon
24	chr18:12015600-12028200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr18:12015800-12019400	Strong transcription	Fetal Muscle Trunk	muscle
26	chr18:12015800-12023200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr18:12015800-12024200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr18:12015800-12026600	Weak transcription	Psoas Muscle	Psoas
29	chr18:12015800-12030400	Strong transcription	Fetal Stomach	stomach
30	chr18:12016000-12020200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr18:12016000-12021200	Weak transcription	Esophagus	oesophagus
32	chr18:12016000-12021600	Weak transcription	HSMMtube	muscle
33	chr18:12016000-12023200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr18:12016000-12026600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr18:12016000-12026600	Weak transcription	Right Ventricle	heart
36	chr18:12016000-12028000	Weak transcription	Spleen	Spleen
37	chr18:12016000-12032400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr18:12016000-12032400	Weak transcription	HSMM	muscle
39	chr18:12016200-12021200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr18:12016200-12022800	Weak transcription	NHEK	skin
41	chr18:12016200-12023200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr18:12016200-12038000	Weak transcription	Brain Cingulate Gyrus	brain
43	chr18:12016400-12019000	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr18:12016400-12019000	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr18:12016400-12021400	Weak transcription	Adipose Nuclei	Adipose
46	chr18:12016400-12021800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr18:12016400-12023200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr18:12016400-12026800	Weak transcription	Stomach Mucosa	stomach
49	chr18:12016400-12026800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr18:12016400-12028400	Weak transcription	Rectal Smooth Muscle	rectum

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