Variant report

Variant	rs73243118
Chromosome Location	chr4:15669699-15669700
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	chr4:15667185..15670762-chr4:15673659..15675755,3	K562	blood:
2	chr4:15668976..15670549-chr4:15675107..15677746,2	MCF-7	breast:
3	chr4:15652202..15654659-chr4:15668639..15670937,2	MCF-7	breast:
4	chr4:15669222..15672294-chr4:15681695..15684873,3	K562	blood:
5	chr4:15653293..15659319-chr4:15668815..15673574,11	MCF-7	breast:
6	chr4:15669176..15670885-chr4:15682529..15684654,2	MCF-7	breast:
7	chr4:15669270..15672127-chr4:15677094..15678755,2	MCF-7	breast:
8	chr4:15669572..15671315-chr4:15723195..15724968,2	MCF-7	breast:
9	chr4:15664444..15667043-chr4:15668246..15669921,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000237765	Chromatin interaction
ENSG00000118564	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16892232	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17385861	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17385951	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17405797	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17476879	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2302465	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2302469	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3756245	0.84[EUR][1000 genomes]
rs3822258	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4279202	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55735476	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55757331	0.84[EUR][1000 genomes]
rs55784324	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55803452	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55963737	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56065468	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56093715	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56094420	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56149419	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56166932	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73224650	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73224656	0.87[EUR][1000 genomes]
rs73224663	0.82[EUR][1000 genomes]
rs73237171	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73237172	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73237182	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73237198	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239165	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239167	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239174	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239175	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239182	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239189	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239191	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239193	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241109	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241111	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241112	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241117	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241120	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241180	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241183	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241185	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241190	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241191	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241195	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241197	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73241198	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243105	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243107	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243112	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243114	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243126	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243128	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243129	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243131	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243132	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73243135	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7683000	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	esv3361772	chr4:15666732-15684418	Transcr. at gene 5' and 3' Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15657600-15681400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:15658000-15672200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr4:15658000-15673800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:15658000-15675200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:15658000-15679000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:15658000-15681400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr4:15658200-15670600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr4:15658200-15679200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:15658200-15679200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr4:15658200-15682200	Weak transcription	Fetal Stomach	stomach
11	chr4:15658600-15673000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:15658600-15679000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr4:15659800-15678600	Weak transcription	K562	blood
14	chr4:15660200-15670600	Weak transcription	Fetal Lung	lung
15	chr4:15660400-15679200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr4:15661600-15678600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:15662400-15678800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr4:15664800-15681800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr4:15666800-15670200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:15667000-15670600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr4:15667400-15669800	Strong transcription	GM12878-XiMat	blood
22	chr4:15667400-15670800	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr4:15667400-15675200	Weak transcription	Fetal Intestine Large	intestine
24	chr4:15667800-15670000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr4:15667800-15673800	Weak transcription	Fetal Intestine Small	intestine
26	chr4:15668000-15670000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:15668000-15676400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr4:15668200-15670800	Weak transcription	HSMMtube	muscle
29	chr4:15668200-15672600	Weak transcription	Placenta	Placenta
30	chr4:15668200-15678600	Weak transcription	NHLF	lung
31	chr4:15668400-15670000	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr4:15668400-15670200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr4:15668400-15679000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr4:15668400-15682800	Weak transcription	Fetal Brain Male	brain
35	chr4:15668600-15670000	Strong transcription	HMEC	breast
36	chr4:15668600-15673000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr4:15668600-15677000	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr4:15668600-15678800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr4:15668600-15679000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr4:15668600-15681400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr4:15668800-15669800	Genic enhancers	Primary monocytes fromperipheralblood	blood
42	chr4:15668800-15678600	Weak transcription	Hela-S3	cervix
43	chr4:15669000-15670200	Strong transcription	NHEK	skin
44	chr4:15669000-15670600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr4:15669000-15671000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr4:15669000-15677600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr4:15669000-15679000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr4:15669200-15669800	Enhancers	Brain Anterior Caudate	brain
49	chr4:15669200-15670800	Weak transcription	NHDF-Ad	bronchial
50	chr4:15669200-15672800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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