Variant report

Variant	rs2576057
Chromosome Location	chr18:44644127-44644128
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:44642698..44644448-chr18:44647501..44649189,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs12953864	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12968552	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13381713	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1434529	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16954921	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16954999	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1836259	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2289133	0.90[AFR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2571002	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2571004	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2571005	0.84[EUR][1000 genomes]
rs2571006	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2571007	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2571008	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2571010	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2571014	0.86[EUR][1000 genomes]
rs2571017	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2576052	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2576058	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2635051	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2635052	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2635054	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2635056	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2668758	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2668759	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2668761	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2668762	0.86[EUR][1000 genomes]
rs2668763	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2668784	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2684819	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2684833	0.84[EUR][1000 genomes]
rs2684851	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28718304	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36095873	0.82[EUR][1000 genomes]
rs55730206	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7239323	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8085634	0.92[EUR][1000 genomes]
rs9953157	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9956809	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9961383	0.90[AFR][1000 genomes];0.95[EUR][1000 genomes];0.90[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	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv833640	chr18:44552276-44714872	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv909612	chr18:44560875-44681485	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv576819	chr18:44602249-44677627	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44620800-44675400	Weak transcription	A549	lung
2	chr18:44621600-44674400	Weak transcription	Small Intestine	intestine
3	chr18:44624200-44654200	Weak transcription	Fetal Heart	heart
4	chr18:44626600-44664800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr18:44629200-44675800	Weak transcription	HUVEC	blood vessel
6	chr18:44630200-44646400	Strong transcription	Primary B cells from cord blood	blood
7	chr18:44630400-44644200	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr18:44630600-44660400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr18:44632000-44654200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr18:44632400-44675800	Weak transcription	Stomach Mucosa	stomach
11	chr18:44636200-44670600	Weak transcription	Pancreas	Pancrea
12	chr18:44636600-44661000	Weak transcription	Psoas Muscle	Psoas
13	chr18:44637000-44647000	Weak transcription	Fetal Brain Male	brain
14	chr18:44638400-44660800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr18:44639200-44662400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr18:44639600-44660600	Weak transcription	NHLF	lung
17	chr18:44639600-44665000	Weak transcription	Colonic Mucosa	Colon
18	chr18:44639600-44666400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr18:44639800-44645000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr18:44639800-44654800	Weak transcription	HMEC	breast
21	chr18:44639800-44660600	Weak transcription	NH-A	brain
22	chr18:44639800-44660800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr18:44640000-44645000	Weak transcription	Fetal Kidney	kidney
24	chr18:44640400-44662000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr18:44640600-44646200	Weak transcription	GM12878-XiMat	blood
26	chr18:44640600-44675600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr18:44640800-44662000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr18:44641000-44653800	Weak transcription	HSMM	muscle
29	chr18:44641000-44654200	Weak transcription	Brain Anterior Caudate	brain
30	chr18:44641000-44654800	Weak transcription	Hela-S3	cervix
31	chr18:44641200-44644800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr18:44641200-44644800	Weak transcription	NHDF-Ad	bronchial
33	chr18:44641200-44645200	Weak transcription	HSMMtube	muscle
34	chr18:44641200-44654200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr18:44641200-44655600	Weak transcription	Fetal Brain Female	brain
36	chr18:44641200-44659600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr18:44641600-44644800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr18:44641600-44645200	Weak transcription	Brain Hippocampus Middle	brain
39	chr18:44641600-44645800	Weak transcription	Fetal Lung	lung
40	chr18:44641600-44654000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr18:44641600-44654200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr18:44641600-44654200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr18:44641600-44660400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr18:44641600-44670400	Weak transcription	HepG2	liver
45	chr18:44641600-44674000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr18:44641600-44675800	Weak transcription	Lung	lung
47	chr18:44641800-44644400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr18:44641800-44644600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr18:44641800-44644800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr18:44641800-44644800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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