Variant report

Variant	rs4672059
Chromosome Location	chr2:55861125-55861126
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10496043	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10496047	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12470253	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12471135	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12472098	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12476169	1.00[ASN][1000 genomes]
rs1579780	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17278148	1.00[ASN][1000 genomes]
rs17278197	1.00[ASN][1000 genomes]
rs17369240	1.00[ASN][1000 genomes]
rs17737937	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17792798	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17792822	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17800851	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs41281507	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4671247	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4671251	1.00[ASN][1000 genomes]
rs4671256	1.00[ASN][1000 genomes]
rs4672053	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4672057	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4672060	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4672062	1.00[ASN][1000 genomes]
rs4672064	1.00[ASN][1000 genomes]
rs55635545	1.00[ASN][1000 genomes]
rs55919620	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56071955	0.89[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56227318	0.81[EUR][1000 genomes]
rs56286204	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56299972	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56769899	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6729021	1.00[ASN][1000 genomes]
rs6741902	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812189	1.00[ASN][1000 genomes]
rs72812199	1.00[ASN][1000 genomes]
rs72814203	1.00[ASN][1000 genomes]
rs72814204	1.00[ASN][1000 genomes]
rs72814206	1.00[ASN][1000 genomes]
rs72814216	1.00[ASN][1000 genomes]
rs72814217	1.00[ASN][1000 genomes]
rs72814219	1.00[ASN][1000 genomes]
rs72814230	1.00[ASN][1000 genomes]
rs72814233	1.00[ASN][1000 genomes]
rs72814235	1.00[ASN][1000 genomes]
rs72814236	1.00[ASN][1000 genomes]
rs72814242	1.00[ASN][1000 genomes]
rs73940304	1.00[ASN][1000 genomes]
rs7568378	1.00[ASN][1000 genomes]
rs7569732	1.00[ASN][1000 genomes]
rs7584017	1.00[ASN][1000 genomes]
rs7586423	1.00[ASN][1000 genomes]
rs7603050	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520581	chr2:55622825-55903016	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv834080	chr2:55741036-55927928	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	esv2757798	chr2:55747239-55981074	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	esv2759050	chr2:55747239-55981074	Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1008452	chr2:55809191-55987274	Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55846400-55870000	Weak transcription	Aorta	Aorta
2	chr2:55846600-55861800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:55846600-55862200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:55846600-55862800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr2:55846600-55863400	Weak transcription	Fetal Kidney	kidney
6	chr2:55846600-55870000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:55846600-55870000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:55846800-55862000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:55846800-55862000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:55846800-55862200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:55846800-55862600	Weak transcription	NHDF-Ad	bronchial
12	chr2:55846800-55863400	Weak transcription	HSMMtube	muscle
13	chr2:55846800-55863400	Weak transcription	NHLF	lung
14	chr2:55846800-55863800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:55846800-55919800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:55847400-55862200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:55847400-55911000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr2:55847600-55862000	Weak transcription	Osteobl	bone
19	chr2:55847600-55864200	Weak transcription	Brain Germinal Matrix	brain
20	chr2:55847600-55870000	Weak transcription	Colonic Mucosa	Colon
21	chr2:55847600-55870000	Weak transcription	Psoas Muscle	Psoas
22	chr2:55847600-55886600	Weak transcription	Stomach Mucosa	stomach
23	chr2:55847800-55862000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr2:55847800-55862000	Weak transcription	NH-A	brain
25	chr2:55847800-55862200	Weak transcription	HUVEC	blood vessel
26	chr2:55847800-55863400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:55848000-55862600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr2:55848000-55862800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:55848000-55872600	Weak transcription	Small Intestine	intestine
30	chr2:55848800-55862000	Weak transcription	Hela-S3	cervix
31	chr2:55849200-55862800	Weak transcription	Left Ventricle	heart
32	chr2:55849200-55863600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:55849200-55865200	Weak transcription	Gastric	stomach
34	chr2:55849200-55865600	Weak transcription	Fetal Brain Female	brain
35	chr2:55849200-55867400	Weak transcription	Lung	lung
36	chr2:55849200-55868200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:55849200-55868200	Weak transcription	Right Ventricle	heart
38	chr2:55849200-55869400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:55849200-55873200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr2:55849400-55862800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:55849400-55862800	Weak transcription	Placenta	Placenta
42	chr2:55849400-55863400	Weak transcription	Fetal Muscle Leg	muscle
43	chr2:55849400-55867400	Weak transcription	Thymus	Thymus
44	chr2:55849600-55862200	Weak transcription	GM12878-XiMat	blood
45	chr2:55849600-55862800	Weak transcription	Fetal Lung	lung
46	chr2:55849800-55862200	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr2:55849800-55863400	Weak transcription	HepG2	liver
48	chr2:55849800-55863800	Weak transcription	Esophagus	oesophagus
49	chr2:55849800-55869400	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr2:55849800-55882800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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