Variant report

Variant	rs73241198
Chromosome Location	chr4:15656212-15656213
allele	G/T
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:15650281..15653257-chr4:15654255..15656394,2	K562	blood:
2	chr4:15544533..15546139-chr4:15654596..15656765,2	K562	blood:
3	chr4:15652688..15657004-chr4:15659488..15663550,8	K562	blood:
4	chr4:15651703..15660794-chr4:15677607..15686235,25	K562	blood:
5	chr4:15654775..15659231-chr4:15659761..15666940,9	K562	blood:
6	chr4:15655671..15658131-chr4:15716646..15719360,2	MCF-7	breast:
7	chr4:15479740..15482605-chr4:15655501..15658427,3	MCF-7	breast:
8	chr4:15656159..15658615-chr4:15712805..15714316,2	K562	blood:
9	chr4:15655590..15657245-chr4:15703796..15706264,2	K562	blood:
10	chr4:15650206..15660298-chr4:15677140..15687517,25	K562	blood:
11	chr4:15654963..15657954-chr4:15685988..15688544,3	MCF-7	breast:
12	chr12:122235040..122237798-chr4:15655451..15658367,2	MCF-7	breast:
13	chr4:15655595..15658742-chr4:15680185..15687360,10	MCF-7	breast:
14	chr4:15649396..15652390-chr4:15655110..15656784,2	MCF-7	breast:
15	chr4:15652080..15658606-chr4:15677363..15685579,17	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000118564	Chromatin interaction
ENSG00000048342	Chromatin interaction
ENSG00000237765	Chromatin interaction
ENSG00000109743	Chromatin interaction
ENSG00000272849	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs16892232	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17385861	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17385951	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17405797	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17476879	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2302465	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2302469	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3756245	0.81[EUR][1000 genomes]
rs3822258	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4279202	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55735476	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55757331	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs55784324	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55803452	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55963737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56065468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56093715	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56094420	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56149419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56166932	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73224650	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73224656	0.85[EUR][1000 genomes]
rs73224663	1.00[AFR][1000 genomes]
rs73237171	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73237172	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73237182	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73237198	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239165	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239167	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239174	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239175	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239182	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239189	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239191	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239193	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241109	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241111	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241112	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241117	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241120	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241185	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241191	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243118	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243132	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243135	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7683000	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2757923	chr4:15444617-15749520	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2759227	chr4:15444617-15749520	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers 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	23 gene(s)	inside rSNPs	diseases
4	nsv428439	chr4:15556961-15749520	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats 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	22 gene(s)	inside rSNPs	diseases
5	nsv1012988	chr4:15597510-16091527	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv518830	chr4:15610771-15672200	Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv521183	chr4:15610771-15692136	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	esv3464809	chr4:15646178-15656952	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
9	esv3464811	chr4:15646243-15656896	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
10	esv3464810	chr4:15646249-15656868	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
11	esv3464812	chr4:15646332-15656829	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
12	esv3322833	chr4:15655679-15658227	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
13	esv3351978	chr4:15655904-15658002	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15652800-15656400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr4:15653400-15656600	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr4:15653400-15657600	Active TSS	Right Atrium	heart
4	chr4:15653800-15657200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:15653800-15657200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:15653800-15657600	Active TSS	K562	blood
7	chr4:15654000-15656400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:15654000-15657200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:15654200-15657000	Active TSS	HMEC	breast
10	chr4:15654200-15657200	Active TSS	Primary monocytes fromperipheralblood	blood
11	chr4:15654400-15656600	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr4:15654400-15657200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr4:15654400-15657400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:15654600-15656400	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr4:15654600-15657200	Active TSS	Muscle Satellite Cultured Cells	--
16	chr4:15654600-15657200	Active TSS	NHEK	skin
17	chr4:15654600-15657200	Active TSS	NHLF	lung
18	chr4:15654600-15657600	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr4:15654600-15658000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr4:15654600-15658200	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr4:15654800-15656600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
22	chr4:15654800-15657200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:15654800-15657200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr4:15654800-15657200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr4:15654800-15657200	Active TSS	HSMM	muscle
26	chr4:15654800-15657200	Active TSS	NHDF-Ad	bronchial
27	chr4:15654800-15657400	Active TSS	Brain Hippocampus Middle	brain
28	chr4:15654800-15657600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:15654800-15657600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:15654800-15657600	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr4:15654800-15657600	Active TSS	GM12878-XiMat	blood
32	chr4:15654800-15658000	Active TSS	Psoas Muscle	Psoas
33	chr4:15655000-15656400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr4:15655000-15656400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr4:15655000-15657200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr4:15655000-15657200	Active TSS	A549	lung
37	chr4:15655000-15657400	Active TSS	Brain Cingulate Gyrus	brain
38	chr4:15655000-15657600	Active TSS	Aorta	Aorta
39	chr4:15655000-15657800	Active TSS	Left Ventricle	heart
40	chr4:15655000-15657800	Active TSS	Right Ventricle	heart
41	chr4:15655000-15658000	Active TSS	Ovary	ovary
42	chr4:15655200-15656400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr4:15655200-15657200	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr4:15655200-15657200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:15655200-15657200	Active TSS	Fetal Muscle Trunk	muscle
46	chr4:15655200-15657200	Active TSS	Placenta	Placenta
47	chr4:15655200-15657200	Active TSS	Placenta Amnion	Placenta Amnion
48	chr4:15655200-15657200	Active TSS	Monocytes-CD14+_RO01746	blood
49	chr4:15655200-15657400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:15655200-15657600	Active TSS	Brain Inferior Temporal Lobe	brain

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