Variant report

Variant	rs66524549
Chromosome Location	chr7:122316009-122316010
allele	G/T
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	chr7:122315742-122316044	H1-hESC	embryonic stem cell:	n/a	n/a
2	RAD21	chr7:122315701-122316066	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr7:122315660-122316066	H1-hESC	embryonic stem cell:	n/a	n/a
4	RAD21	chr7:122315711-122316114	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr7:122315860-122316010	HEK293	kidney:	n/a	n/a

Variant related genes	Relation type
ENSG00000225795	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10278811	1.00[ASN][1000 genomes]
rs10464665	0.84[ASN][1000 genomes]
rs10487754	1.00[ASN][1000 genomes]
rs1686	0.84[ASN][1000 genomes]
rs17144729	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17144731	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17144754	0.84[ASN][1000 genomes]
rs2159824	0.86[ASN][1000 genomes]
rs28540575	1.00[ASN][1000 genomes]
rs28642148	1.00[ASN][1000 genomes]
rs35825527	0.84[ASN][1000 genomes]
rs3919525	0.84[ASN][1000 genomes]
rs4140960	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56122498	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56964412	0.83[ASN][1000 genomes]
rs57389578	0.83[ASN][1000 genomes]
rs58199807	0.83[ASN][1000 genomes]
rs6466836	0.86[ASN][1000 genomes]
rs6466838	0.84[ASN][1000 genomes]
rs66552780	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66699011	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66798940	0.83[ASN][1000 genomes]
rs66884888	0.84[ASN][1000 genomes]
rs66970091	0.86[ASN][1000 genomes]
rs67210777	0.86[ASN][1000 genomes]
rs67253616	0.83[ASN][1000 genomes]
rs67263105	0.86[ASN][1000 genomes]
rs67327643	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67549880	0.86[ASN][1000 genomes]
rs67759336	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67765659	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67803746	0.84[ASN][1000 genomes]
rs67817582	0.86[ASN][1000 genomes]
rs67969832	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72607714	0.86[ASN][1000 genomes]
rs73220285	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7794795	0.86[ASN][1000 genomes]
rs9640810	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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	nsv1017029	chr7:121958574-122338623	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv532178	chr7:122203056-122978846	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv532179	chr7:122249639-122986259	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv532181	chr7:122291571-122684719	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:122293600-122318600	Weak transcription	Lung	lung
2	chr7:122308200-122316600	Weak transcription	Left Ventricle	heart
3	chr7:122311400-122316800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr7:122311800-122316800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:122312000-122316600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:122312000-122316800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr7:122312000-122317000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr7:122312800-122316800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr7:122313000-122316600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:122314200-122318200	Enhancers	Placenta Amnion	Placenta Amnion
11	chr7:122314400-122316600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr7:122314400-122316600	Weak transcription	Ovary	ovary
13	chr7:122314400-122317000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:122314800-122322800	Weak transcription	Right Atrium	heart
15	chr7:122315000-122316400	Weak transcription	Stomach Mucosa	stomach
16	chr7:122315000-122318200	Enhancers	Pancreas	Pancrea
17	chr7:122315000-122318400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr7:122315200-122316200	Enhancers	Gastric	stomach
19	chr7:122315400-122316800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr7:122315400-122317200	Weak transcription	Fetal Stomach	stomach
21	chr7:122315400-122322200	Weak transcription	Fetal Lung	lung
22	chr7:122316000-122316200	Enhancers	Brain Germinal Matrix	brain

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