Variant report

Variant	rs7263723
Chromosome Location	chr20:52320462-52320463
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:52317608..52320469-chr20:55840322..55841907,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226308	Chromatin interaction
ENSG00000101144	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11086434	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6013764	0.93[ASN][1000 genomes]
rs6022682	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055342	chr20:52126973-52352323	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	214 gene(s)	inside rSNPs	diseases
2	esv3412883	chr20:52176349-52393416	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	250 gene(s)	inside rSNPs	diseases
3	nsv834007	chr20:52213864-52404557	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	174 gene(s)	inside rSNPs	diseases
4	nsv912935	chr20:52221906-52337118	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	101 gene(s)	inside rSNPs	diseases
5	nsv912936	chr20:52250876-52344962	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
6	nsv912937	chr20:52251863-52344962	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
7	esv34060	chr20:52251863-52702186	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	296 gene(s)	inside rSNPs	diseases
8	nsv912938	chr20:52276452-52328338	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
9	nsv437185	chr20:52300359-52330053	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52309400-52324800	Weak transcription	Spleen	Spleen
2	chr20:52310200-52322000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr20:52313000-52324000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr20:52315200-52323600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr20:52316200-52330400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr20:52316600-52322600	Weak transcription	A549	lung
7	chr20:52316800-52322600	Weak transcription	Primary B cells from cord blood	blood
8	chr20:52317000-52322600	Weak transcription	Adipose Nuclei	Adipose
9	chr20:52317800-52323200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr20:52318000-52322200	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr20:52318000-52322800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr20:52318000-52323200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr20:52318200-52321400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr20:52318200-52321400	Weak transcription	Fetal Thymus	thymus
15	chr20:52318200-52321400	Weak transcription	Dnd41	blood
16	chr20:52318200-52322400	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr20:52318200-52322400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr20:52318200-52322400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr20:52318200-52322400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr20:52318200-52322400	Weak transcription	Thymus	Thymus
21	chr20:52318200-52322600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr20:52318200-52322600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr20:52318200-52322600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr20:52318200-52322600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr20:52318200-52322600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr20:52318200-52322600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr20:52318200-52322600	Weak transcription	HepG2	liver
28	chr20:52318200-52322600	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr20:52318400-52321400	Weak transcription	Primary T cells from cord blood	blood
30	chr20:52318400-52321400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr20:52318400-52323000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr20:52318600-52322400	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr20:52318600-52322400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr20:52319600-52328200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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