Variant report

Variant	rs2277543
Chromosome Location	chr15:72225961-72225962
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	chr15:72225351..72227489-chr15:72231458..72233712,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs12902160	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12902421	1.00[AMR][1000 genomes]
rs12905794	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12905947	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12906244	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12906356	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12906612	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12907359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12908241	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12908863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12910475	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12910620	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12910700	1.00[AMR][1000 genomes]
rs12911278	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12914208	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12914312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12914936	1.00[AMR][1000 genomes]
rs12915008	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12916039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12916298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12916789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12917442	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2291276	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2291277	0.87[ASN][1000 genomes]
rs2306577	1.00[AMR][1000 genomes]
rs2306578	1.00[AMR][1000 genomes]
rs2957751	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2957752	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34023258	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs34294127	0.87[ASN][1000 genomes]
rs34343226	1.00[AMR][1000 genomes]
rs34362323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34454276	1.00[AMR][1000 genomes]
rs34481625	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34505994	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs34638996	1.00[AMR][1000 genomes]
rs34658339	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs34694253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs34705283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34815962	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs34846563	1.00[AMR][1000 genomes]
rs35061524	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35071085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs35135570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35136885	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35144689	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35145719	1.00[AMR][1000 genomes]
rs35200902	1.00[AMR][1000 genomes]
rs35259670	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35288005	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35362359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs35408293	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35491098	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35554838	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35836103	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36032558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3759815	1.00[AMR][1000 genomes]
rs3759817	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759819	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759821	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55935015	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71395046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71395049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71395050	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71395056	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71395057	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71395058	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71395061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71395066	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036938	chr15:71948106-72272855	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv3331306	chr15:72049818-72427559	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv3433206	chr15:72049838-72427529	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv516871	chr15:72126034-72325595	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv1042740	chr15:72128799-72482239	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv542426	chr15:72128799-72482239	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv904336	chr15:72145937-72329906	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv457195	chr15:72177659-72250741	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
9	nsv569909	chr15:72177659-72250741	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv457197	chr15:72203517-72296328	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv569910	chr15:72203517-72296328	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv569911	chr15:72203517-72305982	Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv457198	chr15:72203517-72325595	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv569912	chr15:72203517-72325595	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72191200-72229600	Weak transcription	HUVEC	blood vessel
2	chr15:72192400-72241200	Weak transcription	Brain Angular Gyrus	brain
3	chr15:72192400-72249400	Weak transcription	NHLF	lung
4	chr15:72193800-72232000	Weak transcription	Fetal Heart	heart
5	chr15:72214000-72226800	Weak transcription	NHEK	skin
6	chr15:72219200-72232600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr15:72219200-72239000	Weak transcription	Aorta	Aorta
8	chr15:72221400-72226800	ZNF genes & repeats	Primary T cells from cord blood	blood
9	chr15:72221800-72228200	Strong transcription	Skeletal Muscle Female	skeletal muscle
10	chr15:72222000-72227000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr15:72222000-72227800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr15:72222200-72232400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr15:72222400-72226800	Strong transcription	Placenta	Placenta
14	chr15:72222600-72226200	Strong transcription	Stomach Smooth Muscle	stomach
15	chr15:72222600-72227400	Weak transcription	Fetal Brain Male	brain
16	chr15:72222600-72228800	Strong transcription	NHDF-Ad	bronchial
17	chr15:72222800-72226800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr15:72223000-72226200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr15:72223600-72228400	Strong transcription	Osteobl	bone
20	chr15:72223800-72231000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr15:72224000-72226800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr15:72224000-72227600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr15:72224200-72226200	Strong transcription	Brain Cingulate Gyrus	brain
24	chr15:72224200-72228600	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr15:72224400-72226000	Strong transcription	Dnd41	blood
26	chr15:72224600-72226000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr15:72224800-72226800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr15:72224800-72228800	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr15:72225000-72226200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr15:72225000-72226600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr15:72225000-72226600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr15:72225000-72226600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr15:72225000-72226800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr15:72225000-72226800	Weak transcription	Ovary	ovary
35	chr15:72225000-72226800	Weak transcription	Pancreas	Pancrea
36	chr15:72225000-72227200	Strong transcription	Liver	Liver
37	chr15:72225000-72227400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr15:72225000-72227600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr15:72225000-72227800	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr15:72225000-72227800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr15:72225000-72227800	Strong transcription	Adipose Nuclei	Adipose
42	chr15:72225000-72228000	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr15:72225000-72228600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr15:72225000-72228600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr15:72225000-72229400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr15:72225000-72230200	Weak transcription	Colon Smooth Muscle	Colon
47	chr15:72225000-72230400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr15:72225000-72230600	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr15:72225000-72231200	Weak transcription	Rectal Smooth Muscle	rectum
50	chr15:72225000-72231200	Strong transcription	HSMM	muscle

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