Variant report

Variant	rs12438324
Chromosome Location	chr15:57579516-57579517
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	chr15:57579113..57581094-chr15:57584110..57586984,2	K562	blood:
2	chr15:57576964..57581094-chr15:57584110..57586984,5	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10518910	1.00[CEU][hapmap]
rs1122890	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12438331	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12438428	1.00[CEU][hapmap];0.85[AMR][1000 genomes]
rs12438782	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12438954	1.00[AFR][1000 genomes]
rs12439017	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12439374	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12440036	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12440699	1.00[CEU][hapmap]
rs12440729	0.85[AMR][1000 genomes]
rs12440878	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12441107	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12441239	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12442521	0.85[AMR][1000 genomes]
rs12442879	1.00[CEU][hapmap];0.86[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	0.86[AMR][1000 genomes]
rs12443097	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1462157	1.00[CEU][hapmap];0.85[AMR][1000 genomes]
rs17239313	0.82[AMR][1000 genomes]
rs17239522	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17239543	1.00[AFR][1000 genomes]
rs17819994	1.00[CEU][hapmap];0.85[AMR][1000 genomes]
rs17820006	0.86[AMR][1000 genomes]
rs17820077	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17820119	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17820131	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2126398	1.00[CEU][hapmap]
rs2414499	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2591050	0.85[AMR][1000 genomes]
rs4514619	1.00[CEU][hapmap]
rs8024992	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8031866	1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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	chr15:57522800-57585000	Strong transcription	Fetal Thymus	thymus
2	chr15:57537800-57598200	Weak transcription	Colonic Mucosa	Colon
3	chr15:57546000-57580600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr15:57552200-57588600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr15:57553200-57585000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr15:57556200-57580600	Weak transcription	Stomach Mucosa	stomach
7	chr15:57557000-57584600	Weak transcription	Colon Smooth Muscle	Colon
8	chr15:57557600-57588600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:57562600-57584200	Strong transcription	Fetal Muscle Trunk	muscle
10	chr15:57562600-57584600	Strong transcription	Fetal Muscle Leg	muscle
11	chr15:57564000-57582400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr15:57564000-57583600	Strong transcription	Dnd41	blood
13	chr15:57564800-57584600	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr15:57565000-57583400	Strong transcription	Thymus	Thymus
15	chr15:57565600-57584600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr15:57566000-57584400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr15:57566000-57591600	Weak transcription	Esophagus	oesophagus
18	chr15:57568000-57582600	Weak transcription	Aorta	Aorta
19	chr15:57568000-57588400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr15:57568000-57590600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr15:57568200-57591600	Weak transcription	Psoas Muscle	Psoas
22	chr15:57568600-57583800	Strong transcription	Fetal Intestine Large	intestine
23	chr15:57571200-57580000	Strong transcription	Adipose Nuclei	Adipose
24	chr15:57571200-57580800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr15:57571400-57582200	Strong transcription	HSMM	muscle
26	chr15:57571400-57583600	Strong transcription	Liver	Liver
27	chr15:57571400-57584800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr15:57572200-57583200	Strong transcription	Placenta	Placenta
29	chr15:57572200-57584200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr15:57573000-57581000	Strong transcription	NHLF	lung
31	chr15:57573200-57580200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr15:57573200-57583000	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr15:57573400-57579600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr15:57573400-57581800	Strong transcription	NH-A	brain
35	chr15:57573600-57580200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr15:57573600-57580200	Strong transcription	Duodenum Mucosa	Duodenum
37	chr15:57573800-57580000	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr15:57573800-57589000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr15:57574000-57583200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr15:57574200-57580000	Strong transcription	Hela-S3	cervix
41	chr15:57574200-57583400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr15:57574400-57579800	Strong transcription	Brain Anterior Caudate	brain
43	chr15:57574600-57581400	Strong transcription	HUVEC	blood vessel
44	chr15:57574800-57580400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr15:57575000-57589200	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr15:57575200-57583000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr15:57575400-57582800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr15:57575400-57583000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr15:57576200-57579800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr15:57576400-57579600	Strong transcription	Fetal Lung	lung

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