Variant report

Variant	rs4923990
Chromosome Location	chr15:45022317-45022318
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:44953583..44958025-chr15:45017998..45023674,11	MCF-7	breast:
2	chr15:44911239..44913616-chr15:45019732..45022719,2	MCF-7	breast:
3	chr15:45002519..45006188-chr15:45021478..45023982,4	MCF-7	breast:
4	chr15:44952527..44956177-chr15:45018956..45022716,7	MCF-7	breast:
5	chr15:44952092..44957540-chr15:45017481..45022918,18	K562	blood:
6	chr15:45022234..45024194-chr15:45049585..45052010,2	K562	blood:
7	chr15:44953895..44957741-chr15:45015371..45022655,19	K562	blood:
8	chr15:45000863..45005844-chr15:45018710..45023352,9	MCF-7	breast:
9	chr15:45021620..45024215-chr15:45028618..45030291,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000229474	Chromatin interaction
ENSG00000104133	Chromatin interaction
ENSG00000185880	Chromatin interaction
ENSG00000166710	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10163110	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10444818	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1137516	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11634059	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11634063	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11639157	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12912870	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1630168	0.93[EUR][1000 genomes]
rs1669833	0.93[EUR][1000 genomes]
rs1690313	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16974543	0.93[EUR][1000 genomes]
rs1720723	0.93[EUR][1000 genomes]
rs1720724	0.93[EUR][1000 genomes]
rs1869125	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1901530	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1901538	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1993152	0.99[ASN][1000 genomes]
rs1993153	0.99[ASN][1000 genomes]
rs2084835	0.91[ASN][1000 genomes]
rs2167595	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2468067	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2470908	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2960206	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3100140	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3100141	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3110677	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3759878	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3759881	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4923991	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4923993	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62024991	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62025968	0.87[EUR][1000 genomes]
rs62025969	0.90[EUR][1000 genomes]
rs6416439	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6416440	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6493110	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6493111	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6493112	0.99[ASN][1000 genomes]
rs6493114	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6493116	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6493118	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6493119	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6493124	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6493125	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6493126	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6493127	0.93[EUR][1000 genomes]
rs6493128	0.87[EUR][1000 genomes]
rs7151	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7165535	0.97[ASN][1000 genomes]
rs7168090	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7172357	0.87[EUR][1000 genomes]
rs7172376	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7496437	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7496559	0.93[EUR][1000 genomes]
rs7497862	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs8035787	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8036223	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8038532	0.90[EUR][1000 genomes]
rs935885	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs935888	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs935889	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]

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	esv3386433	chr15:44654644-45037538	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	135 gene(s)	inside rSNPs	diseases
2	esv2758380	chr15:44968868-45422842	Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	esv2760029	chr15:44968868-45422842	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
4	nsv832990	chr15:44990765-45162714	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45020200-45022400	Active TSS	Rectal Smooth Muscle	rectum
2	chr15:45020200-45023000	Active TSS	Brain Anterior Caudate	brain
3	chr15:45020400-45022400	Active TSS	A549	lung
4	chr15:45020400-45022400	Active TSS	HSMM	muscle
5	chr15:45020400-45022600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr15:45020400-45022800	Active TSS	Brain Germinal Matrix	brain
7	chr15:45020400-45022800	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr15:45020400-45023600	Active TSS	GM12878-XiMat	blood
9	chr15:45020600-45022400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:45020600-45022400	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr15:45020600-45022400	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr15:45020600-45022400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr15:45020600-45022400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr15:45020600-45022400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr15:45020600-45022400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr15:45020600-45022400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr15:45020600-45022400	Active TSS	Colon Smooth Muscle	Colon
18	chr15:45020600-45022400	Active TSS	Fetal Stomach	stomach
19	chr15:45020600-45022400	Active TSS	Psoas Muscle	Psoas
20	chr15:45020600-45022400	Active TSS	HMEC	breast
21	chr15:45020600-45022600	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr15:45020600-45022600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr15:45020600-45022600	Active TSS	Fetal Heart	heart
24	chr15:45020600-45022600	Active TSS	Fetal Kidney	kidney
25	chr15:45020600-45022600	Active TSS	NH-A	brain
26	chr15:45020600-45022800	Active TSS	Fetal Brain Female	brain
27	chr15:45020600-45023000	Active TSS	Brain Angular Gyrus	brain
28	chr15:45020600-45023000	Active TSS	Brain Cingulate Gyrus	brain
29	chr15:45020600-45023000	Active TSS	Brain Hippocampus Middle	brain
30	chr15:45020600-45023000	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr15:45020600-45023000	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr15:45020600-45023000	Active TSS	Right Atrium	heart
33	chr15:45020600-45023000	Active TSS	Right Ventricle	heart
34	chr15:45020600-45023000	Active TSS	NHLF	lung
35	chr15:45020800-45022400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr15:45020800-45022400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr15:45020800-45022600	Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr15:45020800-45022600	Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr15:45020800-45022600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr15:45020800-45022600	Active TSS	Fetal Muscle Leg	muscle
41	chr15:45020800-45022600	Active TSS	Stomach Smooth Muscle	stomach
42	chr15:45020800-45022800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr15:45020800-45022800	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr15:45020800-45022800	Active TSS	NHDF-Ad	bronchial
45	chr15:45020800-45023000	Active TSS	Duodenum Mucosa	Duodenum
46	chr15:45021000-45022400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr15:45021000-45022400	Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr15:45021000-45022600	Active TSS	Primary T cells fromperipheralblood	blood
49	chr15:45021000-45022600	Active TSS	Fetal Thymus	thymus
50	chr15:45021000-45022800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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