Variant report

Variant	rs12438782
Chromosome Location	chr15:57575111-57575112
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:57574753..57576261-chr15:57580804..57583117,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10518910	1.00[CEU][hapmap]
rs1122890	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12438324	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12438331	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12438428	1.00[CEU][hapmap];0.88[AMR][1000 genomes]
rs12438954	1.00[AFR][1000 genomes]
rs12439017	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12439374	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12440036	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12440699	1.00[CEU][hapmap]
rs12440729	0.88[AMR][1000 genomes]
rs12440878	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12441107	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12441239	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12442521	0.88[AMR][1000 genomes]
rs12442879	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12443006	0.86[EUR][1000 genomes]
rs12443076	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12443085	0.90[AMR][1000 genomes]
rs12443097	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1462157	1.00[CEU][hapmap];0.88[AMR][1000 genomes]
rs17239313	0.85[AMR][1000 genomes]
rs17239522	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17239543	1.00[AFR][1000 genomes]
rs17819994	1.00[CEU][hapmap];0.88[AMR][1000 genomes]
rs17820006	0.90[AMR][1000 genomes]
rs17820077	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17820119	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17820131	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2126398	1.00[CEU][hapmap]
rs2414499	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2591050	0.82[AMR][1000 genomes]
rs4320591	1.00[CEU][hapmap]
rs4514619	1.00[CEU][hapmap]
rs8024992	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8031866	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
4	nsv526342	chr15:57565859-57597280	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57520400-57576000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr15:57522800-57585000	Strong transcription	Fetal Thymus	thymus
3	chr15:57537800-57598200	Weak transcription	Colonic Mucosa	Colon
4	chr15:57546000-57580600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr15:57548200-57578000	Weak transcription	Fetal Heart	heart
6	chr15:57552200-57588600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr15:57552400-57578600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:57553200-57585000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr15:57556200-57580600	Weak transcription	Stomach Mucosa	stomach
10	chr15:57557000-57584600	Weak transcription	Colon Smooth Muscle	Colon
11	chr15:57557600-57578000	Weak transcription	Pancreas	Pancrea
12	chr15:57557600-57588600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:57562600-57575600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr15:57562600-57578000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr15:57562600-57584200	Strong transcription	Fetal Muscle Trunk	muscle
16	chr15:57562600-57584600	Strong transcription	Fetal Muscle Leg	muscle
17	chr15:57564000-57582400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr15:57564000-57583600	Strong transcription	Dnd41	blood
19	chr15:57564800-57575600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr15:57564800-57584600	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr15:57565000-57576400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr15:57565000-57583400	Strong transcription	Thymus	Thymus
23	chr15:57565200-57575200	Strong transcription	Fetal Lung	lung
24	chr15:57565600-57584600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr15:57565800-57578000	Weak transcription	Right Ventricle	heart
26	chr15:57566000-57577800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr15:57566000-57577800	Weak transcription	Brain Substantia Nigra	brain
28	chr15:57566000-57579000	Weak transcription	Brain Germinal Matrix	brain
29	chr15:57566000-57584400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr15:57566000-57591600	Weak transcription	Esophagus	oesophagus
31	chr15:57566200-57578400	Weak transcription	Spleen	Spleen
32	chr15:57566400-57577800	Weak transcription	Small Intestine	intestine
33	chr15:57566400-57578000	Weak transcription	Ovary	ovary
34	chr15:57567000-57579000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr15:57567400-57575800	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr15:57567400-57577600	Weak transcription	A549	lung
37	chr15:57567800-57578600	Weak transcription	NHEK	skin
38	chr15:57568000-57576000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr15:57568000-57578200	Weak transcription	Brain Angular Gyrus	brain
40	chr15:57568000-57578400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr15:57568000-57582600	Weak transcription	Aorta	Aorta
42	chr15:57568000-57588400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr15:57568000-57590600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr15:57568200-57577800	Weak transcription	Gastric	stomach
45	chr15:57568200-57577800	Weak transcription	HMEC	breast
46	chr15:57568200-57578000	Weak transcription	Lung	lung
47	chr15:57568200-57578400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr15:57568200-57591600	Weak transcription	Psoas Muscle	Psoas
49	chr15:57568600-57583800	Strong transcription	Fetal Intestine Large	intestine
50	chr15:57569400-57576400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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