Variant report

Variant	rs7534485
Chromosome Location	chr1:168720621-168720622
allele	C/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	FOXA1	chr1:168720355-168720912	T-47D	breast:	n/a	n/a
2	RFX5	chr1:168720507-168720678	HepG2	liver:	n/a	n/a
3	SP1	chr1:168720249-168720739	A549	lung:	n/a	n/a
4	FOXA2	chr1:168720372-168720791	A549	lung:	n/a	n/a
5	FOXA1	chr1:168720264-168720733	HepG2	liver:	n/a	n/a
6	POLR2A	chr1:168720429-168721075	H1-neurons	neurons:	n/a	n/a
7	KAP1	chr1:168720220-168721969	U2OS	brain:	n/a	chr1:168721501-168721510
8	MAFK	chr1:168720427-168720812	HepG2	liver:	n/a	chr1:168720615-168720635 chr1:168720619-168720629 chr1:168720617-168720633 chr1:168720618-168720632
9	FOXA1	chr1:168720351-168720934	T-47D	breast:	n/a	n/a
10	EP300	chr1:168720317-168720738	T-47D	breast:	n/a	n/a
11	POLR2A	chr1:168720510-168721079	H1-neurons	neurons:	n/a	n/a
12	MAFF	chr1:168720288-168720816	HepG2	liver:	n/a	chr1:168720619-168720637 chr1:168720618-168720632
13	MAFF	chr1:168720486-168720760	K562	blood:	n/a	chr1:168720619-168720637 chr1:168720618-168720632
14	REST	chr1:168720093-168721755	H1-neurons	neurons:	n/a	chr1:168721674-168721681
15	FOXA1	chr1:168720333-168720774	HepG2	liver:	n/a	n/a
16	GATA3	chr1:168720324-168720702	T-47D	breast:	n/a	n/a
17	FOXA2	chr1:168720212-168720743	A549	lung:	n/a	n/a
18	FOXA1	chr1:168720270-168720625	HepG2	liver:	n/a	n/a
19	MAFK	chr1:168720436-168720840	HepG2	liver:	n/a	chr1:168720615-168720635 chr1:168720619-168720629 chr1:168720617-168720633 chr1:168720618-168720632
20	REST	chr1:168720354-168720964	H1-neurons	neurons:	n/a	n/a
21	FOXA1	chr1:168720328-168720672	HepG2	liver:	n/a	n/a
22	KAP1	chr1:168720384-168722037	HEK293	kidney:	n/a	chr1:168721501-168721510

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:168717969..168723195-chr1:169075012..169079192,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221578	TF binding region
ENSG00000143153	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1018453	0.89[ASN][1000 genomes]
rs10489362	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1052591	0.89[ASN][1000 genomes]
rs10800378	0.84[ASN][1000 genomes]
rs12563398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12567476	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12568207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12724380	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12728858	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12731369	0.89[ASN][1000 genomes]
rs12735097	0.94[ASN][1000 genomes]
rs12737253	0.81[AMR][1000 genomes]
rs12739280	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12742262	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12748557	0.94[ASN][1000 genomes]
rs12755391	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1555206	0.90[ASN][1000 genomes]
rs1556790	0.91[ASN][1000 genomes]
rs1556791	0.91[ASN][1000 genomes]
rs1556792	0.91[ASN][1000 genomes]
rs1556793	0.91[ASN][1000 genomes]
rs17569416	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1765516	0.94[ASN][1000 genomes]
rs1765517	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1989300	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2206288	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2206289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2206290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2223478	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2744658	0.89[ASN][1000 genomes]
rs2744659	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2744661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2744665	0.84[ASN][1000 genomes]
rs2786758	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2786759	0.84[ASN][1000 genomes]
rs2786760	0.97[ASN][1000 genomes]
rs2786762	0.84[ASN][1000 genomes]
rs35723976	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs472668	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs484025	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs485109	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs485855	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs489585	1.00[ASN][1000 genomes]
rs525275	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs534139	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs538714	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs542198	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs552859	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs555676	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs609629	0.96[ASN][1000 genomes]
rs610403	0.96[ASN][1000 genomes]
rs623949	0.96[ASN][1000 genomes]
rs625712	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs627872	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6427148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6427149	0.99[ASN][1000 genomes]
rs6427150	0.84[ASN][1000 genomes]
rs655128	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs656919	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6656646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6666079	0.94[ASN][1000 genomes]
rs6675239	0.84[ASN][1000 genomes]
rs6678818	0.94[ASN][1000 genomes]
rs6687926	0.80[ASN][1000 genomes]
rs6688024	0.96[AFR][1000 genomes]
rs6688207	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6690929	0.84[ASN][1000 genomes]
rs6693709	0.81[ASN][1000 genomes]
rs6697889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6701299	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs672950	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs686610	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs731949	0.89[ASN][1000 genomes]
rs734123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs760912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs760913	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs763433	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs926431	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	nsv831847	chr1:168669877-168850129	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr1:168711200-168724200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:168719800-168721200	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr1:168720000-168721600	Enhancers	Colon Smooth Muscle	Colon
4	chr1:168720000-168721600	Enhancers	Hela-S3	cervix
5	chr1:168720000-168722000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:168720200-168720800	Enhancers	A549	lung
7	chr1:168720200-168720800	Enhancers	HepG2	liver
8	chr1:168720200-168721800	Enhancers	Rectal Smooth Muscle	rectum
9	chr1:168720400-168720800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:168720400-168720800	Enhancers	Fetal Heart	heart
11	chr1:168720400-168721000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:168720400-168721000	Enhancers	Placenta Amnion	Placenta Amnion
13	chr1:168720400-168721200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:168720400-168721200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr1:168720400-168722000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:168720600-168721000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:168720600-168721000	Enhancers	Fetal Kidney	kidney
18	chr1:168720600-168721000	Enhancers	Stomach Mucosa	stomach
19	chr1:168720600-168721400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:168720600-168722200	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr1:168720600-168722600	Enhancers	Fetal Lung	lung

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