Variant report

Variant	rs1816322
Chromosome Location	chr15:57330511-57330512
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	chr15:57285454..57287142-chr15:57328507..57331190,2	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs11854006	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12437635	1.00[AFR][1000 genomes]
rs12437713	0.86[EUR][1000 genomes]
rs12437714	1.00[AFR][1000 genomes]
rs12437735	1.00[AFR][1000 genomes]
rs12437753	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12437777	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12438151	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12438244	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs12438428	1.00[AFR][1000 genomes]
rs12438464	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12438572	1.00[AFR][1000 genomes]
rs12438893	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12439010	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12439017	1.00[AFR][1000 genomes]
rs12439149	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12439165	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12439266	0.92[EUR][1000 genomes]
rs12439547	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12439994	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12440116	0.92[EUR][1000 genomes]
rs12440245	1.00[AFR][1000 genomes]
rs12440699	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12440725	1.00[AFR][1000 genomes]
rs12440729	1.00[AFR][1000 genomes]
rs12440790	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12440891	1.00[AFR][1000 genomes]
rs12441185	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12441200	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12441239	1.00[AFR][1000 genomes]
rs12441263	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12441769	1.00[AFR][1000 genomes]
rs12441888	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12441892	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12442042	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12442238	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12442326	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12442521	1.00[AFR][1000 genomes]
rs12442630	1.00[AFR][1000 genomes]
rs12442642	1.00[AFR][1000 genomes]
rs12442662	1.00[AFR][1000 genomes]
rs12442839	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12442879	1.00[AFR][1000 genomes]
rs12443085	1.00[AFR][1000 genomes]
rs12443125	1.00[AFR][1000 genomes]
rs1462157	1.00[AFR][1000 genomes]
rs1529597	1.00[AFR][1000 genomes]
rs16977170	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16977201	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17238950	1.00[AFR][1000 genomes]
rs17238971	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17238992	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17239020	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17239047	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17239068	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17239089	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17239187	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17239208	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs17239215	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17819646	1.00[AFR][1000 genomes]
rs17819658	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs17819664	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs17819694	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs17819755	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17819779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17819809	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17819839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17819886	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs17819946	1.00[AFR][1000 genomes]
rs17819994	1.00[AFR][1000 genomes]
rs2126398	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2414496	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2585110	0.92[AMR][1000 genomes]
rs4320591	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4362334	1.00[AFR][1000 genomes]
rs4424865	1.00[AFR][1000 genomes]
rs4514619	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs8031866	0.88[EUR][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	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	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
4	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
5	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:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57309400-57334600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr15:57311000-57347000	Weak transcription	Fetal Intestine Large	intestine
3	chr15:57316400-57345400	Weak transcription	Fetal Intestine Small	intestine
4	chr15:57318600-57331000	Weak transcription	Fetal Kidney	kidney
5	chr15:57318600-57335600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr15:57324200-57331400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr15:57324200-57331800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr15:57324200-57332600	Weak transcription	Fetal Lung	lung
9	chr15:57324200-57337800	Weak transcription	Psoas Muscle	Psoas
10	chr15:57324200-57339000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr15:57324200-57341200	Weak transcription	Fetal Stomach	stomach
12	chr15:57324400-57332600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr15:57324400-57338000	Weak transcription	HSMM	muscle
14	chr15:57324400-57341200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr15:57324400-57349200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr15:57324600-57331400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr15:57324600-57355800	Weak transcription	Primary B cells from cord blood	blood
18	chr15:57324600-57398600	Weak transcription	Fetal Muscle Leg	muscle
19	chr15:57324800-57347200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr15:57324800-57349400	Weak transcription	Right Ventricle	heart
21	chr15:57325000-57334600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr15:57325400-57332600	Weak transcription	Colon Smooth Muscle	Colon
23	chr15:57326400-57341000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr15:57326600-57331200	Weak transcription	HepG2	liver
25	chr15:57326600-57331400	Weak transcription	Brain Angular Gyrus	brain
26	chr15:57326800-57332400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr15:57327200-57332600	Weak transcription	Liver	Liver
28	chr15:57327800-57332600	Enhancers	Brain Hippocampus Middle	brain
29	chr15:57328200-57353600	Weak transcription	Pancreas	Pancrea
30	chr15:57328400-57332600	Weak transcription	Gastric	stomach
31	chr15:57328400-57333600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr15:57328400-57341200	Weak transcription	Ovary	ovary
33	chr15:57328400-57343800	Weak transcription	Small Intestine	intestine
34	chr15:57328400-57345800	Weak transcription	Left Ventricle	heart
35	chr15:57328600-57330800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr15:57328600-57331200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr15:57328600-57355000	Weak transcription	Dnd41	blood
38	chr15:57328800-57331000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr15:57328800-57331000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr15:57328800-57331000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr15:57328800-57331200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr15:57328800-57331400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr15:57328800-57331600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr15:57328800-57331600	Weak transcription	Brain Anterior Caudate	brain
45	chr15:57328800-57331800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr15:57328800-57332400	Weak transcription	Fetal Brain Male	brain
47	chr15:57328800-57332800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr15:57328800-57336400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr15:57329000-57330600	Enhancers	Primary T cells fromperipheralblood	blood
50	chr15:57329200-57330800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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