Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31513885..31515520-chr22:31517409..31519547,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185133	Chromatin interaction

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10304	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12484094	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2074736	0.88[ASN][1000 genomes]
rs2267167	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2283875	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2283877	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4820942	0.84[ASN][1000 genomes]
rs5749215	0.90[ASN][1000 genomes]
rs5753466	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829173	chr22:31450043-31543956	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv914975	chr22:31466083-31514477	Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv914976	chr22:31475307-31543260	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv914977	chr22:31477563-31514477	Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31504200-31515000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:31504200-31515400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr22:31504400-31517800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr22:31504400-31518000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr22:31504600-31518600	Weak transcription	Fetal Brain Female	brain
6	chr22:31512600-31517800	Weak transcription	Aorta	Aorta
7	chr22:31513800-31515600	Enhancers	Fetal Heart	heart
8	chr22:31514000-31514400	Enhancers	Duodenum Mucosa	Duodenum
9	chr22:31514000-31514400	Enhancers	Fetal Muscle Trunk	muscle
10	chr22:31514000-31514600	Enhancers	Psoas Muscle	Psoas
11	chr22:31514000-31514800	Enhancers	Left Ventricle	heart
12	chr22:31514000-31515600	Enhancers	Fetal Intestine Large	intestine
13	chr22:31514000-31516600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr22:31514000-31516600	Enhancers	Fetal Muscle Leg	muscle
15	chr22:31514000-31517000	Enhancers	K562	blood
16	chr22:31514000-31517200	Enhancers	Right Ventricle	heart
17	chr22:31514200-31514400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr22:31514200-31514400	Enhancers	Colonic Mucosa	Colon
19	chr22:31514200-31514800	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr22:31514200-31515200	Enhancers	HepG2	liver
21	chr22:31514200-31516000	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr22:31514200-31516600	Enhancers	Right Atrium	heart
23	chr22:31514200-31518400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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