Variant report

Variant	rs58362859
Chromosome Location	chr12:4262243-4262244
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs61475476	1.00[AMR][1000 genomes]
rs73243922	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73261565	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73261573	1.00[AMR][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	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1050474	chr12:4226760-4389238	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4252400-4262600	Weak transcription	Esophagus	oesophagus
2	chr12:4252400-4262600	Weak transcription	Lung	lung
3	chr12:4254800-4264400	Enhancers	Primary B cells from peripheral blood	blood
4	chr12:4256800-4265400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:4257000-4262800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:4257000-4265400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr12:4257200-4265400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr12:4258000-4262600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:4258000-4262600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:4258000-4262600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr12:4258000-4262600	Weak transcription	Stomach Mucosa	stomach
12	chr12:4258000-4262600	Weak transcription	NHEK	skin
13	chr12:4258000-4262800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:4258200-4262600	Weak transcription	Colonic Mucosa	Colon
15	chr12:4258200-4262600	Weak transcription	Small Intestine	intestine
16	chr12:4258200-4262800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:4258400-4265200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr12:4259800-4264400	Enhancers	Primary B cells from cord blood	blood
19	chr12:4260600-4266600	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr12:4260800-4262600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr12:4260800-4262800	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr12:4260800-4264600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:4260800-4264800	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr12:4261000-4262400	Enhancers	K562	blood
25	chr12:4261000-4262600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:4261000-4263400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:4261000-4263600	Enhancers	Primary hematopoietic stem cells	blood
28	chr12:4261000-4263600	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr12:4261000-4264200	Enhancers	Fetal Thymus	thymus
30	chr12:4261000-4264600	Enhancers	Primary T cells from cord blood	blood
31	chr12:4261000-4264600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr12:4261000-4264600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr12:4261000-4266000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:4261200-4262600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:4261200-4264000	Weak transcription	Thymus	Thymus
36	chr12:4261200-4264600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr12:4261200-4264800	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr12:4261200-4264800	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr12:4261600-4263200	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr12:4261600-4265600	Enhancers	Primary T cells fromperipheralblood	blood
41	chr12:4261800-4262400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr12:4261800-4262600	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr12:4261800-4263000	Enhancers	Duodenum Mucosa	Duodenum
44	chr12:4261800-4263000	Enhancers	Fetal Muscle Leg	muscle
45	chr12:4261800-4263200	Enhancers	Fetal Muscle Trunk	muscle
46	chr12:4261800-4263200	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr12:4261800-4265000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr12:4262000-4262600	Enhancers	GM12878-XiMat	blood
49	chr12:4262000-4263000	Enhancers	Spleen	Spleen
50	chr12:4262200-4264400	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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