Variant report

Variant	rs72930820
Chromosome Location	chr2:55863301-55863302
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55857547..55860047-chr2:55862706..55864207,2	MCF-7	breast:
2	chr2:55862409..55864848-chr2:55873720..55876031,2	K562	blood:
3	chr2:54201384..54203059-chr2:55863159..55864990,2	K562	blood:

Variant related genes	Relation type
ENSG00000138035	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11884148	1.00[AMR][1000 genomes]
rs11884255	1.00[AMR][1000 genomes]
rs11897251	1.00[AMR][1000 genomes]
rs56390609	1.00[AMR][1000 genomes]
rs57298935	0.83[AMR][1000 genomes]
rs57883523	1.00[AMR][1000 genomes]
rs58772635	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59796313	0.83[AMR][1000 genomes]
rs59822040	0.83[AMR][1000 genomes]
rs60097935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6729650	1.00[AMR][1000 genomes]
rs72917903	1.00[AMR][1000 genomes]
rs72917924	1.00[AMR][1000 genomes]
rs72917948	1.00[AMR][1000 genomes]
rs72917974	1.00[AMR][1000 genomes]
rs72917976	1.00[AMR][1000 genomes]
rs72918887	1.00[AMR][1000 genomes]
rs72919765	1.00[AMR][1000 genomes]
rs72919774	1.00[AMR][1000 genomes]
rs72919784	1.00[AMR][1000 genomes]
rs72920703	1.00[AMR][1000 genomes]
rs72920705	1.00[AMR][1000 genomes]
rs72921811	0.83[AMR][1000 genomes]
rs72921812	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72923707	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72923710	0.83[AMR][1000 genomes]
rs72923716	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72930831	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72930837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72930864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7565042	1.00[AMR][1000 genomes]
rs7578877	1.00[AMR][1000 genomes]
rs7581700	1.00[AMR][1000 genomes]
rs7602095	1.00[AMR][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	chr2:55846600-55863400	Weak transcription	Fetal Kidney	kidney
3	chr2:55846600-55870000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:55846600-55870000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:55846800-55863400	Weak transcription	HSMMtube	muscle
6	chr2:55846800-55863400	Weak transcription	NHLF	lung
7	chr2:55846800-55863800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:55846800-55919800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:55847400-55911000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:55847600-55864200	Weak transcription	Brain Germinal Matrix	brain
11	chr2:55847600-55870000	Weak transcription	Colonic Mucosa	Colon
12	chr2:55847600-55870000	Weak transcription	Psoas Muscle	Psoas
13	chr2:55847600-55886600	Weak transcription	Stomach Mucosa	stomach
14	chr2:55847800-55863400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:55848000-55872600	Weak transcription	Small Intestine	intestine
16	chr2:55849200-55863600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:55849200-55865200	Weak transcription	Gastric	stomach
18	chr2:55849200-55865600	Weak transcription	Fetal Brain Female	brain
19	chr2:55849200-55867400	Weak transcription	Lung	lung
20	chr2:55849200-55868200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:55849200-55868200	Weak transcription	Right Ventricle	heart
22	chr2:55849200-55869400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:55849200-55873200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:55849400-55863400	Weak transcription	Fetal Muscle Leg	muscle
25	chr2:55849400-55867400	Weak transcription	Thymus	Thymus
26	chr2:55849800-55863400	Weak transcription	HepG2	liver
27	chr2:55849800-55863800	Weak transcription	Esophagus	oesophagus
28	chr2:55849800-55869400	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr2:55849800-55882800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr2:55851200-55863800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr2:55851400-55870000	Weak transcription	Spleen	Spleen
32	chr2:55852000-55865800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr2:55852000-55872400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr2:55853000-55863400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr2:55853200-55864000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr2:55853400-55863800	Weak transcription	Brain Anterior Caudate	brain
37	chr2:55853600-55863400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr2:55853600-55882400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr2:55856400-55863600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr2:55857000-55873800	Strong transcription	Fetal Thymus	thymus
41	chr2:55857600-55869800	Weak transcription	Brain Angular Gyrus	brain
42	chr2:55857800-55863600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr2:55857800-55863600	Weak transcription	Brain Hippocampus Middle	brain
44	chr2:55858200-55920400	Weak transcription	Fetal Heart	heart
45	chr2:55858600-55871600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr2:55858800-55873400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:55858800-55875600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:55858800-55877200	Strong transcription	Dnd41	blood
49	chr2:55859000-55863400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr2:55859000-55863800	Weak transcription	Ovary	ovary

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