Variant report

Variant	rs12439207
Chromosome Location	chr15:33421039-33421040
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11072234	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11636386	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12439289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12439352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12594079	0.84[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1454985	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1454986	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17235638	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17235645	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17235652	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17235701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17235708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17235722	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1902149	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1902150	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1902151	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1988447	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28375098	0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs28420167	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28522640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28593387	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3850097	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3861196	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3861200	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4567671	0.84[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs4780080	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7178163	0.92[AMR][1000 genomes];0.95[ASN][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	nsv903979	chr15:33144202-33550256	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1052966	chr15:33149753-33541951	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv542340	chr15:33149753-33541951	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv903981	chr15:33207082-33550256	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv568918	chr15:33244672-33446971	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv903982	chr15:33282844-33616150	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv903983	chr15:33388030-33550256	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33419000-33422000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:33419000-33423800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:33419000-33423800	Weak transcription	Brain Angular Gyrus	brain
4	chr15:33419200-33424200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr15:33419200-33427600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr15:33419200-33427600	Weak transcription	Lung	lung
7	chr15:33419200-33428600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr15:33419200-33430000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr15:33419200-33430400	Weak transcription	Psoas Muscle	Psoas
10	chr15:33419400-33423600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr15:33419400-33423600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr15:33419400-33423800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr15:33419600-33423600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr15:33419600-33423600	Weak transcription	Fetal Lung	lung
15	chr15:33419600-33423600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr15:33419600-33423600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr15:33419600-33423600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr15:33419600-33423600	Weak transcription	NHEK	skin
19	chr15:33419600-33423800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr15:33419600-33423800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr15:33419600-33423800	Weak transcription	HSMMtube	muscle
22	chr15:33419600-33423800	Weak transcription	HUVEC	blood vessel
23	chr15:33419600-33423800	Weak transcription	NH-A	brain
24	chr15:33419600-33424000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr15:33419600-33424000	Weak transcription	Primary T cells from cord blood	blood
26	chr15:33419600-33424000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr15:33419800-33423800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr15:33419800-33423800	Weak transcription	HMEC	breast
29	chr15:33420000-33423600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr15:33420000-33423600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr15:33420000-33423600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr15:33420000-33423600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr15:33420000-33423800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr15:33420000-33423800	Weak transcription	Fetal Muscle Leg	muscle
35	chr15:33420000-33423800	Weak transcription	Osteobl	bone
36	chr15:33420000-33424000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr15:33420000-33425200	Weak transcription	Adipose Nuclei	Adipose
38	chr15:33420000-33425200	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr15:33420000-33427200	Weak transcription	Colon Smooth Muscle	Colon
40	chr15:33420200-33421400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr15:33420200-33421600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr15:33420200-33423600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr15:33420200-33423600	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr15:33420200-33423600	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr15:33420200-33423600	Weak transcription	Thymus	Thymus
46	chr15:33420200-33423600	Weak transcription	Hela-S3	cervix
47	chr15:33420200-33423600	Weak transcription	HSMM	muscle
48	chr15:33420200-33423800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr15:33420400-33423600	Weak transcription	NHLF	lung
50	chr15:33420400-33423800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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