Variant report

Variant	rs12438151
Chromosome Location	chr15:57443922-57443923
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:57438911..57440950-chr15:57443234..57446216,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11854006	0.88[EUR][1000 genomes]
rs12437777	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12438244	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12438428	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12438464	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12438893	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12439010	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12439017	1.00[AFR][1000 genomes]
rs12439149	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12439165	1.00[AFR][1000 genomes]
rs12439266	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12439994	1.00[AFR][1000 genomes]
rs12440036	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12440116	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12440699	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12440729	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12440790	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12441185	0.84[EUR][1000 genomes]
rs12441200	0.84[EUR][1000 genomes]
rs12441239	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12441263	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12441888	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12441892	1.00[AFR][1000 genomes]
rs12442042	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12442238	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12442326	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12442521	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12442879	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12443085	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1462157	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs16977201	0.88[EUR][1000 genomes]
rs17238992	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs17239020	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs17239047	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs17239068	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs17239089	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs17239187	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17239208	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17239215	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17239313	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17819694	1.00[AFR][1000 genomes]
rs17819755	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs17819779	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs17819809	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs17819839	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs17819886	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17819946	1.00[AFR][1000 genomes]
rs17819994	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs17820006	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1816322	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2126398	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2414496	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4320591	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4514619	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8031866	0.96[EUR][1000 genomes]

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	nsv1042486	chr15:57094598-57505992	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57428600-57444000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr15:57433000-57444000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr15:57438600-57444000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr15:57439000-57463400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr15:57439400-57444000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr15:57439400-57444000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr15:57439400-57456000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr15:57439400-57491600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr15:57439600-57444000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr15:57440400-57444000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr15:57440800-57450400	Weak transcription	Aorta	Aorta
12	chr15:57441200-57448600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr15:57441200-57450800	Weak transcription	Esophagus	oesophagus
14	chr15:57441600-57444200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr15:57441600-57444600	ZNF genes & repeats	Dnd41	blood
16	chr15:57441600-57445400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr15:57441600-57447600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr15:57442000-57444000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr15:57442200-57444000	Strong transcription	Primary T cells from cord blood	blood
20	chr15:57442200-57445000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr15:57442200-57446800	ZNF genes & repeats	GM12878-XiMat	blood
22	chr15:57442400-57444000	Weak transcription	Right Atrium	heart
23	chr15:57442400-57445600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr15:57442400-57446600	Weak transcription	Fetal Heart	heart
25	chr15:57442400-57448000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr15:57442400-57450400	Weak transcription	Ovary	ovary
27	chr15:57442600-57444000	Weak transcription	Brain Hippocampus Middle	brain
28	chr15:57442600-57444000	Weak transcription	Fetal Kidney	kidney
29	chr15:57442600-57444000	Weak transcription	Psoas Muscle	Psoas
30	chr15:57442600-57444200	Weak transcription	Left Ventricle	heart
31	chr15:57442600-57446400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr15:57442600-57447200	Weak transcription	Brain Anterior Caudate	brain
33	chr15:57442600-57450600	Weak transcription	Gastric	stomach
34	chr15:57442800-57444000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr15:57442800-57444000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr15:57442800-57444000	Weak transcription	HSMM	muscle
37	chr15:57442800-57444000	Weak transcription	HSMMtube	muscle
38	chr15:57442800-57444000	Weak transcription	NH-A	brain
39	chr15:57442800-57444000	Weak transcription	Osteobl	bone
40	chr15:57442800-57444200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr15:57442800-57447800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr15:57442800-57448200	Weak transcription	Brain Substantia Nigra	brain
43	chr15:57443000-57444000	Weak transcription	Adipose Nuclei	Adipose
44	chr15:57443000-57444000	Weak transcription	NHDF-Ad	bronchial
45	chr15:57443000-57444400	Weak transcription	HUVEC	blood vessel
46	chr15:57443000-57445200	ZNF genes & repeats	Fetal Intestine Large	intestine
47	chr15:57443200-57444000	Weak transcription	HMEC	breast
48	chr15:57443200-57444200	ZNF genes & repeats	Fetal Thymus	thymus
49	chr15:57443200-57444400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
50	chr15:57443200-57444600	ZNF genes & repeats	Fetal Intestine Small	intestine

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