Variant report

Variant	rs1058157
Chromosome Location	chr2:46988275-46988276
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	chr2:46924903..46927573-chr2:46987073..46989521,2	K562	blood:

Variant related genes	Relation type
ENSG00000171150	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1109380	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11676737	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11695058	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12474201	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12998753	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12998762	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12999586	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13012099	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13025595	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13025984	0.95[CEU][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13031872	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13429704	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17822019	0.95[CEU][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17822294	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2346878	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2346882	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2346883	0.83[EUR][1000 genomes]
rs34401107	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35158352	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35722922	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35825831	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3829835	1.00[CEU][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4130731	0.81[EUR][1000 genomes]
rs4356702	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4952842	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4952843	0.80[CEU][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4953419	0.83[CEU][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4953423	0.84[EUR][1000 genomes]
rs62134772	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62134773	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6738426	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7562173	0.84[CEU][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7584870	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7594523	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs897530	0.84[CEU][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][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	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	nsv1013079	chr2:46949337-46998417	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv961404	chr2:46985967-46989160	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46974600-46990000	Weak transcription	Colonic Mucosa	Colon
2	chr2:46976200-46990400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:46977000-46988400	Weak transcription	Brain Angular Gyrus	brain
4	chr2:46979600-46989600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr2:46980200-46988600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:46980400-46988400	Weak transcription	Right Ventricle	heart
7	chr2:46980800-46988800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr2:46981200-46988800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:46981200-46989600	Weak transcription	Small Intestine	intestine
10	chr2:46981200-46991000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:46981400-47006800	Weak transcription	Psoas Muscle	Psoas
12	chr2:46981600-46988400	Weak transcription	NHEK	skin
13	chr2:46981800-46993200	Weak transcription	Fetal Heart	heart
14	chr2:46982200-46988800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:46983200-46990400	Strong transcription	Osteobl	bone
16	chr2:46983600-46988600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:46983600-46989600	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:46984400-46998600	Weak transcription	Fetal Brain Male	brain
19	chr2:46985000-46990200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:46985200-46991400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:46985600-46998600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:46985600-47008200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:46986800-46989600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr2:46987000-46988800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:46987000-46993000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr2:46987200-46988600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:46987200-46988800	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr2:46987200-46988800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr2:46987200-46989000	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr2:46987200-46989000	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr2:46987200-46989000	Weak transcription	Adipose Nuclei	Adipose
32	chr2:46987200-46989000	Weak transcription	Brain Germinal Matrix	brain
33	chr2:46987200-46989000	Weak transcription	Brain Substantia Nigra	brain
34	chr2:46987200-46989000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr2:46987200-46989000	Weak transcription	Dnd41	blood
36	chr2:46987200-46990200	Weak transcription	Placenta	Placenta
37	chr2:46987200-46995000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr2:46987200-46996200	Weak transcription	Stomach Smooth Muscle	stomach
39	chr2:46987200-46997800	Weak transcription	Liver	Liver
40	chr2:46987400-46989000	Weak transcription	Primary B cells from peripheral blood	blood
41	chr2:46987400-46989000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr2:46987400-46989000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr2:46987400-46989000	Weak transcription	Thymus	Thymus
44	chr2:46987400-46989200	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr2:46987400-46989200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:46987400-46989200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:46987400-46989200	Weak transcription	Fetal Muscle Trunk	muscle
48	chr2:46987400-46989200	Weak transcription	Fetal Thymus	thymus
49	chr2:46987400-46989200	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr2:46987400-46989200	Weak transcription	Spleen	Spleen

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