Variant report

Variant	rs55743072
Chromosome Location	chr7:149387923-149387924
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:149380156..149381800-chr7:149385578..149389038,3	MCF-7	breast:
2	chr7:149382826..149386025-chr7:149386520..149388195,3	K562	blood:
3	chr7:149386410..149389616-chr7:149411226..149413045,3	K562	blood:
4	chr7:149386377..149389153-chr7:149437745..149440227,2	MCF-7	breast:
5	chr7:149386837..149389497-chr7:149406569..149408146,2	K562	blood:
6	chr7:149387246..149389616-chr7:149411226..149412939,2	K562	blood:

Variant related genes	Relation type
ENSG00000133619	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs28400384	1.00[ASN][1000 genomes]
rs55953147	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56374122	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57484717	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60962760	1.00[AMR][1000 genomes]
rs73725553	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73725554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73725557	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73725559	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73725561	1.00[ASN][1000 genomes]
rs73725563	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73725564	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73725565	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73725566	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73725567	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73725572	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73725577	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73725578	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73725579	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73725582	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][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	nsv1021849	chr7:149230929-149422239	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1034350	chr7:149264094-149666356	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv539190	chr7:149264094-149666356	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1023901	chr7:149364044-149747442	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv539191	chr7:149364044-149747442	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv469576	chr7:149379626-149563233	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv1031581	chr7:149386249-149570178	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh 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
8	nsv539192	chr7:149386249-149570178	Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:149380400-149389400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:149383400-149388000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr7:149386600-149388600	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr7:149387000-149388200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
5	chr7:149387000-149388800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:149387400-149388200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:149387400-149388200	Flanking Active TSS	K562	blood
8	chr7:149387400-149388600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:149387600-149388000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr7:149387600-149388000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr7:149387600-149388000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr7:149387600-149388200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr7:149387600-149388400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:149387600-149388400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
15	chr7:149387600-149388400	Enhancers	HMEC	breast
16	chr7:149387600-149388600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:149387600-149388600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:149387600-149388600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
19	chr7:149387600-149388600	Active TSS	A549	lung
20	chr7:149387600-149389600	Enhancers	Placenta	Placenta
21	chr7:149387800-149388000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
22	chr7:149387800-149388000	Bivalent Enhancer	Left Ventricle	heart
23	chr7:149387800-149388000	Flanking Bivalent TSS/Enh	HepG2	liver
24	chr7:149387800-149388000	Enhancers	Osteobl	bone
25	chr7:149387800-149388200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:149387800-149388200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr7:149387800-149388200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr7:149387800-149388200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr7:149387800-149388200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr7:149387800-149388200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:149387800-149388600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr7:149387800-149388600	Bivalent Enhancer	Fetal Muscle Leg	muscle
33	chr7:149387800-149388600	Strong transcription	Right Atrium	heart
34	chr7:149387800-149389800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr7:149387800-149390200	Active TSS	H9 Cell Line	embryonic stem cell

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