Variant report

Variant	rs73404424
Chromosome Location	chr18:12806953-12806954
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:12805583..12807776-chr18:12809327..12811664,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10502414	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10502415	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1065630	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16939859	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17597893	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17598047	0.94[EUR][1000 genomes]
rs17656120	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17656142	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17657106	0.88[EUR][1000 genomes]
rs45458596	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs45506596	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs45510799	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs45518232	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs45518540	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs45575332	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs45602843	0.88[EUR][1000 genomes]
rs45626137	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57450722	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57528860	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59368414	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59698881	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60617398	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73402502	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73404411	0.99[EUR][1000 genomes]
rs73404414	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73404420	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73404421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73404453	0.89[EUR][1000 genomes]
rs73414061	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8084006	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8085163	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8088256	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8092305	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs973767	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers 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 miRNA target site	130 gene(s)	inside rSNPs	diseases
2	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv1064273	chr18:12697601-12828251	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1064844	chr18:12748045-12953235	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
8	nsv543656	chr18:12748045-12953235	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription 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	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12767400-12815800	Weak transcription	Gastric	stomach
2	chr18:12776800-12819800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr18:12777800-12838200	Weak transcription	Colonic Mucosa	Colon
4	chr18:12782000-12811200	Weak transcription	Right Ventricle	heart
5	chr18:12784600-12809000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr18:12787400-12808800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr18:12787600-12815800	Weak transcription	Pancreas	Pancrea
8	chr18:12789000-12821400	Weak transcription	Small Intestine	intestine
9	chr18:12789200-12814200	Weak transcription	Fetal Kidney	kidney
10	chr18:12789600-12808800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr18:12789800-12809000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr18:12789800-12809000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr18:12790200-12828000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr18:12790400-12809000	Weak transcription	HSMM	muscle
15	chr18:12790400-12813600	Weak transcription	A549	lung
16	chr18:12790400-12814000	Weak transcription	Osteobl	bone
17	chr18:12790400-12815800	Weak transcription	K562	blood
18	chr18:12790600-12820000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr18:12791200-12815800	Weak transcription	Brain Germinal Matrix	brain
20	chr18:12791200-12819600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr18:12791400-12819600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr18:12791400-12837000	Weak transcription	NHDF-Ad	bronchial
23	chr18:12791600-12828000	Weak transcription	HUVEC	blood vessel
24	chr18:12791800-12821600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr18:12792200-12815800	Weak transcription	NH-A	brain
26	chr18:12792800-12815800	Weak transcription	Brain Angular Gyrus	brain
27	chr18:12792800-12819600	Weak transcription	NHLF	lung
28	chr18:12793000-12811400	Strong transcription	Fetal Thymus	thymus
29	chr18:12794600-12809000	Weak transcription	HSMMtube	muscle
30	chr18:12794600-12815800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr18:12794800-12809000	Weak transcription	Aorta	Aorta
32	chr18:12795000-12808800	Weak transcription	Spleen	Spleen
33	chr18:12795200-12815800	Weak transcription	Brain Anterior Caudate	brain
34	chr18:12797800-12819800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr18:12798000-12809000	Weak transcription	Esophagus	oesophagus
36	chr18:12798000-12814800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr18:12798200-12814200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr18:12798200-12814200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr18:12798400-12809000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr18:12798400-12809000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr18:12800200-12809200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr18:12801200-12809000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr18:12801200-12815600	Weak transcription	HepG2	liver
44	chr18:12801400-12810400	Weak transcription	HMEC	breast
45	chr18:12801400-12813600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr18:12801800-12808400	Weak transcription	Left Ventricle	heart
47	chr18:12801800-12808800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr18:12801800-12809000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr18:12801800-12809000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr18:12801800-12809000	Weak transcription	Fetal Stomach	stomach

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