Variant report

Variant	rs73243922
Chromosome Location	chr12:4262811-4262812
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]
rs58362859	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61475476	1.00[AMR][1000 genomes]
rs73261565	0.89[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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4254800-4264400	Enhancers	Primary B cells from peripheral blood	blood
2	chr12:4256800-4265400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:4257000-4265400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr12:4257200-4265400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr12:4258400-4265200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr12:4259800-4264400	Enhancers	Primary B cells from cord blood	blood
7	chr12:4260600-4266600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr12:4260800-4264600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:4260800-4264800	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr12:4261000-4263400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:4261000-4263600	Enhancers	Primary hematopoietic stem cells	blood
12	chr12:4261000-4263600	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr12:4261000-4264200	Enhancers	Fetal Thymus	thymus
14	chr12:4261000-4264600	Enhancers	Primary T cells from cord blood	blood
15	chr12:4261000-4264600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:4261000-4264600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr12:4261000-4266000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:4261200-4264000	Weak transcription	Thymus	Thymus
19	chr12:4261200-4264600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr12:4261200-4264800	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr12:4261200-4264800	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr12:4261600-4263200	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr12:4261600-4265600	Enhancers	Primary T cells fromperipheralblood	blood
24	chr12:4261800-4263000	Enhancers	Duodenum Mucosa	Duodenum
25	chr12:4261800-4263000	Enhancers	Fetal Muscle Leg	muscle
26	chr12:4261800-4263200	Enhancers	Fetal Muscle Trunk	muscle
27	chr12:4261800-4263200	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr12:4261800-4265000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr12:4262000-4263000	Enhancers	Spleen	Spleen
30	chr12:4262200-4264400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr12:4262400-4263600	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr12:4262600-4263000	Enhancers	H1 Cell Line	embryonic stem cell
33	chr12:4262600-4263000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:4262600-4263000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr12:4262600-4263000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr12:4262600-4263000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr12:4262600-4263000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr12:4262600-4263000	Enhancers	Esophagus	oesophagus
39	chr12:4262600-4263000	Enhancers	Right Atrium	heart
40	chr12:4262600-4263200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr12:4262600-4263200	Enhancers	Lung	lung
42	chr12:4262600-4263200	Enhancers	Stomach Mucosa	stomach
43	chr12:4262600-4263400	Enhancers	Placenta	Placenta
44	chr12:4262600-4263600	Flanking Active TSS	GM12878-XiMat	blood
45	chr12:4262600-4263800	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr12:4262600-4264000	Enhancers	Colonic Mucosa	Colon
47	chr12:4262600-4264400	Enhancers	Dnd41	blood
48	chr12:4262600-4264400	Enhancers	NHEK	skin
49	chr12:4262800-4263200	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr12:4262800-4263200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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