Variant report

Variant	rs73189583
Chromosome Location	chr7:107255422-107255423
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:107253757..107256527-chr7:107271649..107274387,2	MCF-7	breast:
2	chr7:107249634..107253526-chr7:107253696..107258280,6	K562	blood:
3	chr7:107243569..107245525-chr7:107254509..107256969,2	K562	blood:
4	chr7:107246999..107250593-chr7:107255089..107256858,3	MCF-7	breast:
5	chr7:107249922..107251734-chr7:107254251..107256132,2	K562	blood:
6	chr7:107244762..107246687-chr7:107253830..107255734,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238832	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs59491009	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59542667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59650342	0.87[AMR][1000 genomes]
rs59650878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67869824	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs67921365	0.87[AMR][1000 genomes]
rs6945787	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6957510	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73189572	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73189576	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73189577	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73189582	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73189586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73189592	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73189594	0.97[EUR][1000 genomes]
rs73189601	0.97[EUR][1000 genomes]
rs73189602	0.97[EUR][1000 genomes]
rs73191603	0.97[EUR][1000 genomes]
rs73191605	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73191606	0.97[EUR][1000 genomes]
rs73191607	0.97[EUR][1000 genomes]
rs73191610	0.97[EUR][1000 genomes]
rs73191611	0.95[EUR][1000 genomes]
rs7777628	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7789746	0.97[EUR][1000 genomes]
rs7790596	0.95[EUR][1000 genomes]
rs7790876	0.97[EUR][1000 genomes]
rs7791196	0.97[EUR][1000 genomes]
rs7802519	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1028571	chr7:107114479-107299723	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv539053	chr7:107114479-107299723	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv482365	chr7:107122401-107271861	Enhancers Strong transcription Flanking Active TSS Weak transcription 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	26 gene(s)	inside rSNPs	diseases
5	nsv608074	chr7:107179131-107260856	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107221200-107272000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:107221400-107256400	Weak transcription	Lung	lung
3	chr7:107221400-107272400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:107221400-107276000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr7:107222400-107258200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr7:107223400-107256800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr7:107223600-107256600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr7:107227800-107265400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr7:107230200-107256400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:107233600-107256800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr7:107235200-107271800	Weak transcription	Small Intestine	intestine
12	chr7:107235800-107268200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:107236000-107262800	Weak transcription	GM12878-XiMat	blood
14	chr7:107236000-107270800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:107236400-107256600	Weak transcription	A549	lung
16	chr7:107238000-107272000	Weak transcription	Esophagus	oesophagus
17	chr7:107242000-107258600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr7:107242400-107259200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr7:107242400-107260200	Weak transcription	Colonic Mucosa	Colon
20	chr7:107246200-107261200	Weak transcription	Right Ventricle	heart
21	chr7:107250200-107257000	Weak transcription	Fetal Kidney	kidney
22	chr7:107250800-107259400	Weak transcription	Stomach Mucosa	stomach
23	chr7:107251000-107257400	Weak transcription	Fetal Brain Male	brain
24	chr7:107251400-107261400	Strong transcription	HUVEC	blood vessel
25	chr7:107251600-107261600	Weak transcription	Fetal Heart	heart
26	chr7:107252000-107255600	Strong transcription	K562	blood
27	chr7:107253000-107256000	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr7:107253000-107256800	Strong transcription	Primary T cells from cord blood	blood
29	chr7:107253200-107257000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr7:107253200-107262200	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr7:107253400-107255800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr7:107253400-107256400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:107253400-107257000	Strong transcription	NH-A	brain
34	chr7:107253400-107258200	Strong transcription	Placenta	Placenta
35	chr7:107253400-107258800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:107253600-107257400	Strong transcription	Primary B cells from cord blood	blood
37	chr7:107253600-107257600	Strong transcription	Fetal Muscle Leg	muscle
38	chr7:107253600-107258000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr7:107253600-107258200	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr7:107253800-107255600	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr7:107253800-107255800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:107253800-107255800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:107253800-107255800	Genic enhancers	HMEC	breast
44	chr7:107253800-107256200	Strong transcription	Brain Angular Gyrus	brain
45	chr7:107253800-107256800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:107253800-107257000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:107253800-107257400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:107253800-107257400	Strong transcription	Primary B cells from peripheral blood	blood
49	chr7:107253800-107257400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr7:107253800-107257600	Strong transcription	Primary monocytes fromperipheralblood	blood

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