Variant report

Variant	rs72982242
Chromosome Location	chr2:233933465-233933466
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	chr2:233932142..233934708-chr2:233937958..233939667,2	K562	blood:
2	chr2:233922323..233923950-chr2:233931960..233934343,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs4075111	0.83[ASN][1000 genomes]
rs55749303	0.95[ASN][1000 genomes]
rs55816734	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55827216	1.00[ASN][1000 genomes]
rs56359974	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61487211	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6704675	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6704948	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6717732	1.00[ASN][1000 genomes]
rs6717971	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6746785	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72982218	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72982221	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72982225	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72982227	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72982230	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72982235	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72982236	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72982239	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72982244	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7601830	1.00[ASN][1000 genomes]
rs7606583	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876009	chr2:233799400-233996429	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv876012	chr2:233899377-233996429	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233928800-233933800	Genic enhancers	Primary B cells from cord blood	blood
2	chr2:233928800-233934200	Genic enhancers	Primary B cells from peripheral blood	blood
3	chr2:233929000-233936000	Genic enhancers	Primary T cells fromperipheralblood	blood
4	chr2:233929000-233939800	Weak transcription	Left Ventricle	heart
5	chr2:233929000-233940200	Weak transcription	Gastric	stomach
6	chr2:233929200-233933600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:233929200-233933600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr2:233929200-233940000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:233929400-233933600	Weak transcription	Lung	lung
10	chr2:233929600-233933800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
11	chr2:233929800-233933600	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:233929800-233934000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:233929800-233935400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr2:233930000-233933600	Weak transcription	Colonic Mucosa	Colon
15	chr2:233930800-233934000	Genic enhancers	Spleen	Spleen
16	chr2:233930800-233934600	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr2:233931000-233935800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr2:233931800-233934000	Genic enhancers	Monocytes-CD14+_RO01746	blood
19	chr2:233932000-233935400	Weak transcription	Dnd41	blood
20	chr2:233932000-233936200	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr2:233932200-233934200	Genic enhancers	Primary T cells from cord blood	blood
22	chr2:233932200-233936000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr2:233932200-233937600	Weak transcription	K562	blood
24	chr2:233932400-233934000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:233932400-233940200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:233932600-233934000	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr2:233932600-233934000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr2:233932600-233935400	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr2:233932600-233937600	Weak transcription	Stomach Mucosa	stomach
30	chr2:233932600-233939600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr2:233932600-233940400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr2:233932800-233933600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr2:233932800-233933600	Weak transcription	Fetal Thymus	thymus
34	chr2:233932800-233936400	Weak transcription	HepG2	liver
35	chr2:233933200-233933600	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr2:233933200-233934000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr2:233933200-233934000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr2:233933200-233934000	Enhancers	Adipose Nuclei	Adipose
39	chr2:233933200-233934800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
40	chr2:233933200-233935600	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr2:233933400-233933600	Enhancers	Esophagus	oesophagus
42	chr2:233933400-233933600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
43	chr2:233933400-233933800	Enhancers	Placenta	Placenta
44	chr2:233933400-233933800	Enhancers	Right Ventricle	heart
45	chr2:233933400-233934000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr2:233933400-233934000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:233933400-233934000	Enhancers	Duodenum Mucosa	Duodenum
48	chr2:233933400-233934000	Enhancers	Thymus	Thymus

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