Variant report

Variant	rs12441239
Chromosome Location	chr15:57517619-57517620
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:57511490..57513273-chr15:57516497..57519012,2	K562	blood:
2	chr15:57516204..57519771-chr15:57520107..57524216,4	K562	blood:

Variant related genes	Relation type
ENSG00000140262	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs12437777	1.00[AFR][1000 genomes]
rs12438151	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12438244	1.00[AFR][1000 genomes]
rs12438324	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12438331	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12438428	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12438782	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12438893	1.00[AFR][1000 genomes]
rs12439017	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12439374	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12440036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12440699	1.00[AFR][1000 genomes]
rs12440729	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12440878	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12441888	1.00[AFR][1000 genomes]
rs12441892	1.00[AFR][1000 genomes]
rs12442042	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs12442326	1.00[AFR][1000 genomes]
rs12442521	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12442879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12443085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1462157	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17239089	1.00[AFR][1000 genomes]
rs17239187	1.00[AFR][1000 genomes]
rs17239208	1.00[AFR][1000 genomes]
rs17239215	1.00[AFR][1000 genomes]
rs17239313	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17239522	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17819779	1.00[AFR][1000 genomes]
rs17819809	1.00[AFR][1000 genomes]
rs17819839	1.00[AFR][1000 genomes]
rs17819886	1.00[AFR][1000 genomes]
rs17819946	1.00[AFR][1000 genomes]
rs17819994	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17820006	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17820077	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17820119	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17820131	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1816322	1.00[AFR][1000 genomes]
rs2126398	1.00[AFR][1000 genomes]
rs2414496	1.00[AFR][1000 genomes]
rs4320591	1.00[AFR][1000 genomes]
rs4514619	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904251	chr15:57241970-57575916	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats 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	49 gene(s)	inside rSNPs	diseases
3	nsv457164	chr15:57495060-57559387	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv569578	chr15:57495060-57559387	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv833021	chr15:57495413-57751366	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57453800-57524600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr15:57478800-57526200	Weak transcription	Hela-S3	cervix
3	chr15:57479400-57524800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr15:57481800-57524600	Weak transcription	Right Ventricle	heart
5	chr15:57487000-57524400	Weak transcription	Placenta	Placenta
6	chr15:57501200-57524400	Weak transcription	Thymus	Thymus
7	chr15:57507000-57519800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr15:57508200-57522800	Weak transcription	Fetal Thymus	thymus
9	chr15:57508600-57524400	Weak transcription	HepG2	liver
10	chr15:57509200-57526200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr15:57510600-57518800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr15:57510600-57519400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr15:57510600-57519800	Weak transcription	Dnd41	blood
14	chr15:57510600-57524400	Weak transcription	Liver	Liver
15	chr15:57510600-57524600	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr15:57511200-57525400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr15:57511600-57525600	Weak transcription	A549	lung
18	chr15:57511600-57528000	Weak transcription	Fetal Heart	heart
19	chr15:57511800-57519400	Weak transcription	Colon Smooth Muscle	Colon
20	chr15:57511800-57519600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr15:57511800-57520600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr15:57511800-57520800	Weak transcription	Small Intestine	intestine
23	chr15:57511800-57524400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr15:57511800-57524400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr15:57511800-57524400	Weak transcription	HMEC	breast
26	chr15:57511800-57524600	Weak transcription	Primary B cells from peripheral blood	blood
27	chr15:57511800-57524600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr15:57511800-57525800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr15:57511800-57528400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr15:57511800-57551600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr15:57511800-57565000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr15:57512000-57523400	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr15:57512000-57524600	Weak transcription	Primary B cells from cord blood	blood
34	chr15:57512000-57527200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr15:57512200-57518600	Weak transcription	Brain Germinal Matrix	brain
36	chr15:57512200-57524400	Weak transcription	Left Ventricle	heart
37	chr15:57512200-57524600	Weak transcription	Ovary	ovary
38	chr15:57512600-57524400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr15:57512600-57524400	Weak transcription	Fetal Intestine Large	intestine
40	chr15:57512800-57520400	Weak transcription	Adipose Nuclei	Adipose
41	chr15:57512800-57524400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr15:57513400-57519000	Weak transcription	Brain Substantia Nigra	brain
43	chr15:57513400-57519400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr15:57513400-57519800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr15:57513600-57523800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr15:57513800-57521200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr15:57513800-57524400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr15:57513800-57524400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr15:57513800-57524400	Weak transcription	Fetal Muscle Trunk	muscle
50	chr15:57513800-57524400	Weak transcription	Fetal Stomach	stomach

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