Variant report

Variant	rs73695420
Chromosome Location	chr8:96215226-96215227
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:96215220-96215370	HCT-116	colon:	n/a	n/a
2	CTCF	chr8:96215100-96215250	A549	lung:	n/a	n/a
3	CTCF	chr8:96215206-96215498	GM12878	blood:	n/a	n/a
4	ZNF143	chr8:96215209-96215495	H1-hESC	embryonic stem cell:	n/a	n/a
5	RAD21	chr8:96215141-96215455	SK-N-SH_RA	brain:	n/a	chr8:96215405-96215418
6	CTCF	chr8:96215220-96215370	GM12864	blood:	n/a	n/a
7	CTCF	chr8:96215194-96215442	HepG2	liver:	n/a	n/a
8	CTCF	chr8:96215121-96215482	H1-hESC	embryonic stem cell:	n/a	n/a
9	RAD21	chr8:96215220-96215449	GM12878	blood:	n/a	chr8:96215405-96215418
10	CTCF	chr8:96215220-96215370	GM12865	blood:	n/a	n/a
11	RAD21	chr8:96215055-96215529	H1-hESC	embryonic stem cell:	n/a	chr8:96215405-96215418
12	RFX5	chr8:96215194-96215386	HepG2	liver:	n/a	n/a
13	CTCF	chr8:96215140-96215290	HVMF	connective:	n/a	n/a
14	CTCF	chr8:96215203-96215543	HepG2	liver:	n/a	n/a
15	CTCF	chr8:96215220-96215370	GM12869	blood:	n/a	n/a
16	CTCF	chr8:96215219-96215526	K562	blood:	n/a	n/a
17	RAD21	chr8:96215136-96215491	HepG2	liver:	n/a	chr8:96215405-96215418
18	CTCF	chr8:96215086-96215510	H1-hESC	embryonic stem cell:	n/a	n/a
19	SMC3	chr8:96215208-96215474	HepG2	liver:	n/a	n/a
20	CTCF	chr8:96214979-96215628	A549	lung:	n/a	chr8:96215525-96215546 chr8:96215530-96215548
21	RAD21	chr8:96215023-96215642	MCF-7	breast:	n/a	chr8:96215405-96215418 chr8:96215528-96215547
22	CTCF	chr8:96215220-96215370	GM12871	blood:	n/a	n/a
23	RAD21	chr8:96215087-96215603	H1-hESC	embryonic stem cell:	n/a	chr8:96215405-96215418 chr8:96215528-96215547
24	RAD21	chr8:96215156-96215477	HepG2	liver:	n/a	chr8:96215405-96215418
25	RAD21	chr8:96215152-96215497	HepG2	liver:	n/a	chr8:96215405-96215418
26	CTCF	chr8:96215220-96215370	GM12868	blood:	n/a	n/a
27	CTCF	chr8:96215180-96215330	GM12870	blood:	n/a	n/a
28	CTCF	chr8:96215220-96215370	GM06990	blood:	n/a	n/a
29	MAFK	chr8:96215151-96215435	H1-hESC	embryonic stem cell:	n/a	chr8:96215269-96215280 chr8:96215268-96215282 chr8:96215397-96215406
30	RAD21	chr8:96215038-96215605	MCF-7	breast:	n/a	chr8:96215405-96215418 chr8:96215528-96215547
31	CTCF	chr8:96215174-96215406	A549	lung:	n/a	n/a
32	RAD21	chr8:96215108-96215485	ECC-1	luminal epithelium:	n/a	chr8:96215405-96215418
33	CTCF	chr8:96215220-96215370	NHEK	skin:	n/a	n/a
34	CTCF	chr8:96215220-96215370	GM12874	blood:	n/a	n/a
35	CTCF	chr8:96215097-96215499	MCF-7	breast:	n/a	n/a
36	RAD21	chr8:96215197-96215509	Hela-S3	cervix:	n/a	chr8:96215405-96215418
37	CTCF	chr8:96215200-96215350	GM12869	blood:	n/a	n/a
38	CTCF	chr8:96215180-96215330	GM12874	blood:	n/a	n/a
39	RAD21	chr8:96215143-96215540	H1-hESC	embryonic stem cell:	n/a	chr8:96215405-96215418

No.	Distal block	Cell Line	Cell type
1	chr8:96214177..96216026-chr8:96245562..96248226,2	MCF-7	breast:
2	chr8:96213872..96215410-chr8:96281018..96283394,2	MCF-7	breast:
3	chr8:96212357..96216108-chr8:96221721..96225402,5	MCF-7	breast:
4	chr8:96069007..96069758-chr8:96214829..96215355,2	MCF-7	breast:
5	chr8:96214009..96217041-chr8:96227079..96229399,3	K562	blood:
6	chr8:96114675..96115219-chr8:96215202..96216074,2	MCF-7	breast:
7	chr8:96203588..96205355-chr8:96213750..96216635,2	MCF-7	breast:
8	chr8:96201331..96202935-chr8:96212671..96215830,3	K562	blood:
9	chr21:41758888..41761339-chr8:96214084..96215888,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253773	TF binding region
ENSG00000253773	Chromatin interaction
ENSG00000156172	Chromatin interaction
ENSG00000253351	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs56142854	1.00[AMR][1000 genomes]
rs56145750	1.00[AMR][1000 genomes]
rs60219802	1.00[AMR][1000 genomes]
rs60579196	1.00[AMR][1000 genomes]
rs61012255	1.00[AMR][1000 genomes]
rs73695411	1.00[AMR][1000 genomes]
rs73695412	1.00[AMR][1000 genomes]
rs73695413	1.00[AMR][1000 genomes]
rs73695414	1.00[AMR][1000 genomes]
rs73695415	1.00[AMR][1000 genomes]
rs73695416	1.00[AMR][1000 genomes]
rs73695417	1.00[AMR][1000 genomes]
rs73695418	1.00[AMR][1000 genomes]
rs73695423	1.00[AMR][1000 genomes]
rs73695424	1.00[AMR][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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv523655	chr8:96205920-96239113	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv16466	chr8:96206151-96243934	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv516035	chr8:96208726-96235451	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv465740	chr8:96211820-96235451	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv611758	chr8:96211820-96235451	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96208600-96216400	Weak transcription	Gastric	stomach
2	chr8:96209000-96220000	Weak transcription	Right Ventricle	heart
3	chr8:96212000-96218000	Enhancers	Primary B cells from peripheral blood	blood
4	chr8:96212400-96217000	Enhancers	Fetal Thymus	thymus
5	chr8:96212800-96215600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:96213000-96216200	Weak transcription	Pancreas	Pancrea
7	chr8:96213800-96215800	Enhancers	Thymus	Thymus
8	chr8:96214000-96217000	Enhancers	HepG2	liver
9	chr8:96214200-96220000	Weak transcription	HMEC	breast
10	chr8:96214200-96226400	Weak transcription	Right Atrium	heart
11	chr8:96214400-96233400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:96214600-96216000	Weak transcription	K562	blood
13	chr8:96214600-96217200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:96214800-96215800	Enhancers	Primary B cells from cord blood	blood
15	chr8:96215000-96215400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr8:96215000-96215600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr8:96215000-96215600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr8:96215200-96215400	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr8:96215200-96215400	Enhancers	Placenta	Placenta
20	chr8:96215200-96215600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr8:96215200-96220400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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