Variant report

Variant	rs12440219
Chromosome Location	chr15:57228161-57228162
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:57219695..57221734-chr15:57225928..57228525,2	K562	blood:
2	chr15:57215422..57217856-chr15:57225443..57228595,3	K562	blood:
3	chr15:57227613..57229628-chr15:57229814..57231520,2	K562	blood:
4	chr15:57222937..57225630-chr15:57226421..57228724,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11630965	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11856338	0.86[CEU][hapmap];0.83[EUR][1000 genomes]
rs12437976	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12902058	1.00[CEU][hapmap];0.87[YRI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12906025	0.91[CEU][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1625176	0.80[AMR][1000 genomes]
rs1642927	0.88[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes]
rs1657926	0.83[EUR][1000 genomes]
rs169893	0.88[EUR][1000 genomes]
rs190039	0.88[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1963831	0.85[CEU][hapmap];0.94[EUR][1000 genomes]
rs1968399	0.81[EUR][1000 genomes]
rs1975092	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2111890	0.86[CEU][hapmap];0.86[YRI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2116067	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2116068	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs213152	0.91[EUR][1000 genomes]
rs213155	0.86[CEU][hapmap];0.95[EUR][1000 genomes]
rs213160	0.80[EUR][1000 genomes]
rs213163	0.91[EUR][1000 genomes]
rs213168	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2163370	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2439921	0.84[EUR][1000 genomes]
rs2543675	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2566840	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28639536	0.82[AFR][1000 genomes]
rs34373044	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4581646	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4774245	0.90[YRI][hapmap]
rs4774246	0.91[CEU][hapmap];0.85[YRI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4774900	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7162730	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7164742	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7168945	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs8023343	0.86[YRI][hapmap]
rs8031788	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8035485	0.86[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3422474	chr15:56867190-57244330	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57212400-57230400	Weak transcription	Lung	lung
2	chr15:57212400-57233400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:57212400-57256000	Weak transcription	Pancreas	Pancrea
4	chr15:57212600-57241000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr15:57213200-57256000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr15:57216400-57241800	Weak transcription	Fetal Brain Male	brain
7	chr15:57220400-57236400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr15:57222400-57229600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr15:57222400-57231200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr15:57222600-57228800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr15:57222600-57229000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr15:57222600-57231200	Weak transcription	Osteobl	bone
13	chr15:57222600-57231800	Weak transcription	HSMM	muscle
14	chr15:57222600-57233000	Weak transcription	Right Ventricle	heart
15	chr15:57222600-57250200	Weak transcription	NH-A	brain
16	chr15:57222800-57231800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr15:57222800-57232600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr15:57222800-57240800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr15:57222800-57255000	Weak transcription	HMEC	breast
20	chr15:57223000-57236800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr15:57223200-57230800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr15:57223200-57240400	Weak transcription	Aorta	Aorta
23	chr15:57224200-57231000	Weak transcription	NHDF-Ad	bronchial
24	chr15:57224400-57231200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr15:57224400-57231600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr15:57224400-57231800	Weak transcription	Adipose Nuclei	Adipose
27	chr15:57224400-57231800	Weak transcription	Right Atrium	heart
28	chr15:57224400-57234400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr15:57224400-57235200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr15:57224400-57238000	Weak transcription	Fetal Lung	lung
31	chr15:57224600-57231000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr15:57224600-57231000	Weak transcription	HepG2	liver
33	chr15:57224600-57231000	Weak transcription	NHLF	lung
34	chr15:57224600-57233800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr15:57224600-57248600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr15:57225000-57231200	Weak transcription	Small Intestine	intestine
37	chr15:57225000-57239400	Weak transcription	Left Ventricle	heart
38	chr15:57225000-57244200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr15:57225000-57249000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr15:57225200-57238000	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr15:57225600-57228400	Strong transcription	Primary B cells from cord blood	blood
42	chr15:57226000-57229200	Weak transcription	Hela-S3	cervix
43	chr15:57226200-57228200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr15:57226400-57234000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr15:57226400-57235200	Weak transcription	Colon Smooth Muscle	Colon
46	chr15:57226400-57242000	Weak transcription	HUVEC	blood vessel
47	chr15:57226600-57228200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr15:57226600-57234600	Weak transcription	Fetal Heart	heart
49	chr15:57226800-57228200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr15:57226800-57230600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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