Variant report

Variant	rs72805501
Chromosome Location	chr2:55880566-55880567
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10496045	0.82[EUR][1000 genomes]
rs28451828	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72805471	0.87[EUR][1000 genomes]
rs72805472	0.87[EUR][1000 genomes]
rs72805481	0.87[EUR][1000 genomes]
rs72805484	0.87[EUR][1000 genomes]
rs72805490	0.87[EUR][1000 genomes]
rs72805494	0.87[EUR][1000 genomes]
rs72805498	0.87[EUR][1000 genomes]
rs72805500	0.87[EUR][1000 genomes]
rs72807608	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72807616	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72807624	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72812157	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72812162	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72812164	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72812167	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72812168	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72812175	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72812179	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	nsv9791	chr2:55872725-55883751	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55846800-55919800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:55847400-55911000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:55847600-55886600	Weak transcription	Stomach Mucosa	stomach
4	chr2:55849800-55882800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:55853600-55882400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr2:55858200-55920400	Weak transcription	Fetal Heart	heart
7	chr2:55860400-55905400	Weak transcription	Fetal Brain Male	brain
8	chr2:55864000-55893200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:55864200-55882800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:55864400-55919600	Weak transcription	NHLF	lung
11	chr2:55864600-55881400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr2:55864600-55881400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr2:55866200-55882400	Weak transcription	Ovary	ovary
14	chr2:55866600-55920000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr2:55870400-55887600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:55870400-55887800	Weak transcription	Fetal Brain Female	brain
17	chr2:55870400-55920000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:55870600-55881400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr2:55870600-55892800	Weak transcription	Psoas Muscle	Psoas
20	chr2:55870600-55920000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:55870800-55888000	Weak transcription	Colonic Mucosa	Colon
22	chr2:55870800-55893400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:55870800-55903600	Weak transcription	Gastric	stomach
24	chr2:55870800-55909000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:55870800-55920400	Weak transcription	Aorta	Aorta
26	chr2:55871000-55880600	Weak transcription	Lung	lung
27	chr2:55871000-55887800	Weak transcription	Esophagus	oesophagus
28	chr2:55871000-55893200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:55871000-55893200	Weak transcription	Thymus	Thymus
30	chr2:55871000-55920000	Weak transcription	Spleen	Spleen
31	chr2:55871200-55880600	Weak transcription	Colon Smooth Muscle	Colon
32	chr2:55871200-55893400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr2:55871200-55905200	Weak transcription	Brain Angular Gyrus	brain
34	chr2:55871400-55882600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr2:55871400-55905200	Weak transcription	Fetal Kidney	kidney
36	chr2:55873000-55888400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr2:55873200-55881000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr2:55873200-55893200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr2:55873200-55919800	Weak transcription	Small Intestine	intestine
40	chr2:55873800-55882600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr2:55873800-55899400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr2:55874000-55880600	Weak transcription	GM12878-XiMat	blood
43	chr2:55874200-55881400	Weak transcription	NHDF-Ad	bronchial
44	chr2:55874800-55920200	Weak transcription	Pancreas	Pancrea
45	chr2:55875000-55880600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr2:55875200-55880600	Weak transcription	Placenta	Placenta
47	chr2:55875600-55880600	Weak transcription	NHEK	skin
48	chr2:55875600-55887200	Weak transcription	K562	blood
49	chr2:55878800-55884400	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr2:55879000-55882000	Strong transcription	Skeletal Muscle Male	skeletal muscle

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