Variant report

Variant	rs2593223
Chromosome Location	chr15:57495154-57495155
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	chr15:57485138..57486752-chr15:57494991..57496956,2	K562	blood:
2	chr15:57489296..57493196-chr15:57493593..57496438,4	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11071307	0.86[EUR][1000 genomes]
rs11071310	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11636655	0.84[EUR][1000 genomes]
rs12324235	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12593843	0.90[EUR][1000 genomes]
rs17239222	0.83[EUR][1000 genomes]
rs17239459	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17819940	0.86[EUR][1000 genomes]
rs17820018	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17820095	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1867638	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1870870	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2126402	0.83[EUR][1000 genomes]
rs2169468	0.83[EUR][1000 genomes]
rs2248620	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2252289	0.83[EUR][1000 genomes]
rs2290939	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2431032	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2440972	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2440974	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2441924	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2591062	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2591066	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2593217	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2593221	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2593233	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2593234	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2593236	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2615228	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2703588	0.82[EUR][1000 genomes]
rs2703599	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2703600	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2733187	0.82[EUR][1000 genomes]
rs2733304	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2733309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2733318	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2733320	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2733329	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2733330	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2920270	0.83[EUR][1000 genomes]
rs2921430	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2951902	0.81[EUR][1000 genomes]
rs2957578	0.82[EUR][1000 genomes]
rs2957592	0.82[EUR][1000 genomes]
rs2962995	0.83[EUR][1000 genomes]
rs3794617	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4378569	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4774920	0.87[EUR][1000 genomes]
rs56151428	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6493909	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7165729	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7167268	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7180513	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7182038	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7182188	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72731924	0.86[EUR][1000 genomes]
rs72731934	0.84[EUR][1000 genomes]
rs72731958	0.89[EUR][1000 genomes]
rs72731964	0.87[EUR][1000 genomes]
rs72731970	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72731974	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72731986	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs734033	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8024830	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8027348	0.87[EUR][1000 genomes]
rs8037987	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8042190	0.88[EUR][1000 genomes]
rs8042322	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8043103	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs935328	0.84[EUR][1000 genomes];0.88[ASN][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	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
4	nsv457164	chr15:57495060-57559387	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv569578	chr15:57495060-57559387	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57444400-57507400	Weak transcription	K562	blood
2	chr15:57453800-57524600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr15:57457200-57499400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr15:57458200-57505200	Strong transcription	Fetal Thymus	thymus
5	chr15:57478800-57526200	Weak transcription	Hela-S3	cervix
6	chr15:57479400-57524800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr15:57481800-57524600	Weak transcription	Right Ventricle	heart
8	chr15:57484800-57496200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr15:57484800-57502000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr15:57485000-57501000	Weak transcription	Spleen	Spleen
11	chr15:57485000-57501800	Weak transcription	Lung	lung
12	chr15:57485000-57506200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr15:57485600-57505000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr15:57486600-57496000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr15:57486800-57505800	Weak transcription	NHDF-Ad	bronchial
16	chr15:57487000-57496600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr15:57487000-57524400	Weak transcription	Placenta	Placenta
18	chr15:57487200-57503000	Weak transcription	Liver	Liver
19	chr15:57487200-57511200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr15:57488200-57511600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr15:57488400-57496000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr15:57488400-57496000	Weak transcription	Fetal Intestine Small	intestine
23	chr15:57489200-57496000	Weak transcription	Osteobl	bone
24	chr15:57489200-57506000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr15:57489400-57506200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr15:57490600-57505800	Weak transcription	NH-A	brain
27	chr15:57490800-57496400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr15:57491000-57501400	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr15:57491000-57505600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr15:57491000-57506000	Weak transcription	HMEC	breast
31	chr15:57491200-57508000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr15:57491400-57496000	Weak transcription	Ovary	ovary
33	chr15:57491400-57497200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr15:57491400-57497200	Weak transcription	Right Atrium	heart
35	chr15:57491400-57497800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr15:57491400-57500800	Weak transcription	Thymus	Thymus
37	chr15:57491400-57501200	Weak transcription	Primary B cells from cord blood	blood
38	chr15:57491400-57503000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr15:57491400-57503000	Weak transcription	Primary T cells from cord blood	blood
40	chr15:57491400-57503200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr15:57491400-57505800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr15:57491400-57505800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr15:57491400-57506000	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr15:57491400-57506200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr15:57491400-57510000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr15:57491400-57510000	Weak transcription	Psoas Muscle	Psoas
47	chr15:57491400-57510200	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr15:57491400-57511200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr15:57491600-57496000	Weak transcription	Brain Cingulate Gyrus	brain
50	chr15:57491600-57498400	Weak transcription	Rectal Mucosa Donor 29	rectum

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