Variant report

Variant	rs72923706
Chromosome Location	chr4:102271911-102271912
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:102271777..102274738-chr4:102516515..102519508,3	MCF-7	breast:
2	chr4:102269774..102272032-chr4:102277264..102279804,2	K562	blood:
3	chr4:102266931..102269669-chr4:102271103..102272777,2	K562	blood:
4	chr4:102249081..102251620-chr4:102269591..102272220,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254531	Chromatin interaction
ENSG00000221265	Chromatin interaction
ENSG00000138814	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10006779	0.81[ASN][1000 genomes]
rs10009118	0.81[ASN][1000 genomes]
rs10014486	0.85[ASN][1000 genomes]
rs10029239	0.81[ASN][1000 genomes]
rs11939694	0.81[ASN][1000 genomes]
rs11945941	0.90[ASN][1000 genomes]
rs1837771	0.85[ASN][1000 genomes]
rs2119597	0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2165503	0.85[ASN][1000 genomes]
rs28360831	0.85[ASN][1000 genomes]
rs28536504	0.85[ASN][1000 genomes]
rs28660297	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2866377	0.81[ASN][1000 genomes]
rs2866378	0.81[ASN][1000 genomes]
rs2866379	0.81[ASN][1000 genomes]
rs28694583	0.85[ASN][1000 genomes]
rs28700161	0.81[ASN][1000 genomes]
rs28704863	0.85[ASN][1000 genomes]
rs28720081	0.81[ASN][1000 genomes]
rs28827307	0.85[ASN][1000 genomes]
rs28888113	0.85[ASN][1000 genomes]
rs2903268	0.81[ASN][1000 genomes]
rs3789755	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4394003	0.81[ASN][1000 genomes]
rs55859752	0.85[ASN][1000 genomes]
rs58251277	0.81[ASN][1000 genomes]
rs58296360	0.85[ASN][1000 genomes]
rs6817805	0.90[ASN][1000 genomes]
rs6831824	0.90[ASN][1000 genomes]
rs6832965	0.81[ASN][1000 genomes]
rs6856511	0.81[ASN][1000 genomes]
rs72918881	0.81[ASN][1000 genomes]
rs72930867	0.85[ASN][1000 genomes]
rs7697450	0.85[ASN][1000 genomes]
rs9884169	0.81[ASN][1000 genomes]
rs9884170	0.81[ASN][1000 genomes]
rs9884171	0.81[ASN][1000 genomes]
rs9884173	0.81[ASN][1000 genomes]
rs9884606	0.81[ASN][1000 genomes]
rs9995557	0.81[ASN][1000 genomes]
rs9996429	0.81[ASN][1000 genomes]
rs9999708	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931418	chr4:101500167-102443207	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv999741	chr4:102009017-102454115	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537199	chr4:102009017-102454115	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1004766	chr4:102009017-102713765	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	nsv537200	chr4:102009017-102713765	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1011351	chr4:102056024-102450302	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	nsv879676	chr4:102202285-102340930	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102270000-102276200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:102270000-102276600	Weak transcription	Ovary	ovary
3	chr4:102270000-102280800	Weak transcription	Aorta	Aorta
4	chr4:102270400-102272200	Enhancers	HepG2	liver
5	chr4:102270600-102272000	Enhancers	A549	lung
6	chr4:102270600-102272000	Enhancers	HMEC	breast
7	chr4:102270800-102272200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:102271000-102272000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:102271000-102276000	Weak transcription	Primary B cells from cord blood	blood
10	chr4:102271400-102272000	Enhancers	NHEK	skin
11	chr4:102271600-102276200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:102271600-102276600	Weak transcription	NHLF	lung
13	chr4:102271600-102277000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr4:102271600-102277000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:102271600-102277000	Weak transcription	Stomach Mucosa	stomach
16	chr4:102271600-102277000	Weak transcription	Hela-S3	cervix
17	chr4:102271600-102277200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:102271600-102277200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr4:102271800-102277200	Weak transcription	Rectal Mucosa Donor 31	rectum

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