Variant report

Variant	rs12439165
Chromosome Location	chr15:57256564-57256565
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	chr15:57254284..57256820-chr15:57279086..57281932,2	K562	blood:
2	chr15:57254985..57258076-chr15:57265765..57268821,3	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs11854006	0.81[EUR][1000 genomes]
rs12437635	1.00[AFR][1000 genomes]
rs12437714	1.00[AFR][1000 genomes]
rs12437735	1.00[AFR][1000 genomes]
rs12437753	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12437777	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12438151	1.00[AFR][1000 genomes]
rs12438244	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs12438464	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12438572	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12438893	1.00[AFR][1000 genomes]
rs12439010	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12439149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12439547	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12439994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12440245	1.00[AFR][1000 genomes]
rs12440699	1.00[AFR][1000 genomes]
rs12440725	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12440790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12440891	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12441185	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12441200	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12441263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12441769	1.00[AFR][1000 genomes]
rs12441792	1.00[AFR][1000 genomes]
rs12441888	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs12441892	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs12442238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12442326	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12442630	1.00[AFR][1000 genomes]
rs12442642	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12442662	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12442839	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12443125	1.00[AFR][1000 genomes]
rs12443178	1.00[AFR][1000 genomes]
rs1529597	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs16977170	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16977201	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17238894	1.00[AFR][1000 genomes]
rs17238901	1.00[AFR][1000 genomes]
rs17238950	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17238971	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17238992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17239020	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17239047	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17239068	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17239089	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17239187	1.00[AFR][1000 genomes]
rs17239208	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs17239215	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs17819616	1.00[AFR][1000 genomes]
rs17819646	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs17819658	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17819664	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17819694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17819755	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17819779	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17819809	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17819839	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17819886	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs17819946	1.00[AFR][1000 genomes]
rs1816322	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2126398	1.00[AFR][1000 genomes]
rs2414496	1.00[AFR][1000 genomes]
rs2585110	0.90[AMR][1000 genomes]
rs4320591	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs4362334	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs4424865	1.00[AFR][1000 genomes]
rs4514619	1.00[AFR][1000 genomes]
rs966807	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv542393	chr15:57115116-57341363	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv904250	chr15:57225766-57294085	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv1052052	chr15:57232111-57344561	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv542394	chr15:57232111-57344561	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	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

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57227600-57260600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:57228200-57260600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr15:57244200-57257800	Weak transcription	Fetal Intestine Small	intestine
4	chr15:57251000-57259200	Weak transcription	Right Atrium	heart
5	chr15:57251000-57260600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr15:57251000-57261000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr15:57251800-57260800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr15:57253400-57256800	Enhancers	Dnd41	blood
9	chr15:57253800-57259000	Enhancers	A549	lung
10	chr15:57254200-57258000	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr15:57254400-57256600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr15:57254400-57256800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr15:57254400-57256800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr15:57254400-57256800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr15:57254400-57256800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr15:57254400-57257000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr15:57254400-57257000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr15:57254400-57257000	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr15:57254400-57259000	Enhancers	Brain Substantia Nigra	brain
20	chr15:57254400-57259000	Enhancers	HepG2	liver
21	chr15:57254600-57256800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr15:57254600-57256800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr15:57254600-57256800	Enhancers	Brain Angular Gyrus	brain
24	chr15:57254600-57258000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr15:57254600-57258200	Enhancers	NHDF-Ad	bronchial
26	chr15:57254800-57256800	Enhancers	Brain Cingulate Gyrus	brain
27	chr15:57254800-57257800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr15:57254800-57259000	Enhancers	Brain Hippocampus Middle	brain
29	chr15:57255000-57257000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr15:57255000-57257200	Enhancers	Fetal Lung	lung
31	chr15:57255000-57259000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr15:57255000-57259800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr15:57255200-57257200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr15:57255200-57257400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr15:57255400-57256800	Enhancers	Colon Smooth Muscle	Colon
36	chr15:57255400-57256800	Enhancers	Fetal Thymus	thymus
37	chr15:57255400-57256800	Enhancers	Thymus	Thymus
38	chr15:57255400-57257000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr15:57255400-57257000	Enhancers	Brain Anterior Caudate	brain
40	chr15:57255400-57257200	Enhancers	Fetal Heart	heart
41	chr15:57255400-57257400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr15:57255400-57257800	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr15:57255600-57256600	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr15:57255600-57256800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr15:57255600-57256800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr15:57255600-57256800	Enhancers	Liver	Liver
47	chr15:57255600-57256800	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr15:57255600-57256800	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr15:57255600-57256800	Enhancers	HMEC	breast
50	chr15:57255600-57256800	Enhancers	Osteobl	bone

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