Variant report

Variant	rs72836349
Chromosome Location	chr2:111891795-111891796
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:111891793..111893976-chr2:111895224..111897547,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs13405741	0.89[EUR][1000 genomes]
rs17484848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72836344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72836345	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72836348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72836352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72837816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72837826	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72946301	1.00[AMR][1000 genomes];0.90[EUR][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	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv834331	chr2:111812139-112004678	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv874842	chr2:111870220-111892984	Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv963952	chr2:111883259-111893062	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111881200-111893600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:111881200-111894800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:111881200-111904200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:111881200-111909600	Weak transcription	NHLF	lung
5	chr2:111881200-111912800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:111881600-111893000	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:111881600-111893200	Weak transcription	Fetal Brain Female	brain
8	chr2:111881600-111897200	Weak transcription	Stomach Mucosa	stomach
9	chr2:111881600-111897400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr2:111881600-111901000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr2:111881600-111904200	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:111881800-111893000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:111881800-111893200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:111881800-111893600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:111881800-111894400	Weak transcription	Brain Hippocampus Middle	brain
16	chr2:111881800-111900800	Weak transcription	Fetal Brain Male	brain
17	chr2:111881800-111908600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr2:111881800-111909600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr2:111881800-111919800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr2:111883000-111893200	Weak transcription	NH-A	brain
21	chr2:111883000-111893400	Weak transcription	Brain Anterior Caudate	brain
22	chr2:111883200-111894800	Weak transcription	NHEK	skin
23	chr2:111883400-111892800	Weak transcription	Fetal Stomach	stomach
24	chr2:111883400-111893000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr2:111883400-111893000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:111883400-111893000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:111883400-111893000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:111883400-111893000	Weak transcription	Brain Substantia Nigra	brain
29	chr2:111883400-111893000	Weak transcription	Esophagus	oesophagus
30	chr2:111883400-111893200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr2:111883400-111893400	Weak transcription	Spleen	Spleen
32	chr2:111883400-111907800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr2:111883400-111909400	Weak transcription	Aorta	Aorta
34	chr2:111883400-111912600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr2:111883600-111896200	Weak transcription	Gastric	stomach
36	chr2:111883600-111909400	Weak transcription	Brain Cingulate Gyrus	brain
37	chr2:111883600-111909600	Weak transcription	Small Intestine	intestine
38	chr2:111883800-111893400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr2:111883800-111893600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:111883800-111897000	Weak transcription	HMEC	breast
41	chr2:111883800-111897600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr2:111883800-111898400	Weak transcription	Brain Angular Gyrus	brain
43	chr2:111883800-111904000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr2:111884000-111893200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:111884000-111894800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr2:111884000-111901600	Weak transcription	Hela-S3	cervix
47	chr2:111884400-111893000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:111884600-111909400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr2:111884800-111925400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr2:111885400-111893000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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