Variant report

Variant	rs12705048
Chromosome Location	chr7:98808484-98808485
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr7:98807648-98808637	A549	lung:	n/a	chr7:98808125-98808138
2	MYBL2	chr7:98807732-98808514	HepG2	liver:	n/a	n/a
3	EP300	chr7:98807703-98808499	A549	lung:	n/a	chr7:98808125-98808138
4	GATA3	chr7:98807635-98808507	A549	lung:	n/a	n/a
5	POLR2A	chr7:98807413-98810111	MCF10A-Er-Src	breast:	n/a	n/a
6	FOSL2	chr7:98807327-98808654	A549	lung:	n/a	n/a
7	SP1	chr7:98807636-98808563	A549	lung:	n/a	n/a
8	CEBPB	chr7:98807408-98808484	A549	lung:	n/a	chr7:98808057-98808070
9	TCF12	chr7:98807503-98808601	A549	lung:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:98721425..98723767-chr7:98806465..98809403,2	MCF-7	breast:
2	chr7:98758729..98762342-chr7:98808089..98809747,3	MCF-7	breast:
3	chr7:98807183..98812417-chr7:98813436..98818450,10	MCF-7	breast:
4	chr7:98807265..98810785-chr7:98821071..98827725,5	MCF-7	breast:
5	chr7:98702195..98704241-chr7:98806871..98809621,2	MCF-7	breast:
6	chr7:98679090..98681907-chr7:98808014..98810256,2	MCF-7	breast:
7	chr7:98797515..98801446-chr7:98806232..98810784,4	MCF-7	breast:
8	chr7:98807837..98811719-chr7:98828623..98830666,3	MCF-7	breast:
9	chr7:98694785..98697794-chr7:98808193..98811176,3	MCF-7	breast:
10	chr7:98762592..98764850-chr7:98807943..98809582,2	MCF-7	breast:
11	chr7:98738526..98746153-chr7:98804876..98809686,18	MCF-7	breast:
12	chr7:98807843..98809841-chr7:98921913..98924740,2	MCF-7	breast:
13	chr7:98807571..98809219-chr7:98875910..98878236,2	MCF-7	breast:
14	chr7:98803072..98806068-chr7:98806546..98809669,4	MCF-7	breast:
15	chr7:98740103..98745000-chr7:98806658..98810214,11	MCF-7	breast:
16	chr7:98808174..98810651-chr7:98856542..98858905,3	MCF-7	breast:

No data

Variant related genes	Relation type
KPNA7	TF binding region
ENSG00000241685	Chromatin interaction
ENSG00000198742	Chromatin interaction
ENSG00000185467	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10499949	0.86[AMR][1000 genomes]
rs12673754	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12705032	0.83[AMR][1000 genomes]
rs12705033	0.86[AMR][1000 genomes]
rs12705034	0.86[AMR][1000 genomes]
rs12705035	0.86[AMR][1000 genomes]
rs12705036	0.86[AMR][1000 genomes]
rs12705038	0.86[AMR][1000 genomes]
rs12705039	0.86[AMR][1000 genomes]
rs12705040	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12705041	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12705042	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12705043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12705044	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12705045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12705046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12705047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12705049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12705050	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12705051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12705052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12705054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13221427	0.86[AMR][1000 genomes]
rs13224433	0.83[AMR][1000 genomes]
rs13236786	0.86[AMR][1000 genomes]
rs13236896	0.86[AMR][1000 genomes]
rs13237093	0.86[AMR][1000 genomes]
rs13238146	0.81[AMR][1000 genomes]
rs13239506	0.86[AMR][1000 genomes]
rs13239596	0.86[AMR][1000 genomes]
rs13242894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13244043	0.83[AMR][1000 genomes]
rs13244579	0.86[AMR][1000 genomes]
rs13244583	0.86[AMR][1000 genomes]
rs13244592	0.86[AMR][1000 genomes]
rs13247718	0.86[AMR][1000 genomes]
rs13247877	0.86[AMR][1000 genomes]
rs13309003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13310182	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13310534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867592	0.83[AMR][1000 genomes]
rs17161611	0.86[AMR][1000 genomes]
rs17161615	0.86[AMR][1000 genomes]
rs17161617	0.86[AMR][1000 genomes]
rs34088480	0.86[AMR][1000 genomes]
rs34221671	0.86[AMR][1000 genomes]
rs34250243	0.86[AMR][1000 genomes]
rs34350957	0.86[AMR][1000 genomes]
rs34482096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34617837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34715870	0.86[AMR][1000 genomes]
rs34724557	0.86[AMR][1000 genomes]
rs34929886	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34988009	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35244406	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35312766	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35397579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35511099	0.86[AMR][1000 genomes]
rs35597916	0.86[AMR][1000 genomes]
rs35615419	0.86[AMR][1000 genomes]
rs61749907	0.86[AMR][1000 genomes]
rs66785725	0.86[AMR][1000 genomes]
rs67422346	0.86[AMR][1000 genomes]
rs67723713	0.86[AMR][1000 genomes]
rs67749476	0.86[AMR][1000 genomes]
rs68076840	0.86[AMR][1000 genomes]
rs71567531	0.86[AMR][1000 genomes]
rs71567533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71567534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71567535	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71567536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73401379	0.86[AMR][1000 genomes]
rs73401390	0.83[AMR][1000 genomes]
rs73403103	0.86[AMR][1000 genomes]
rs73403107	0.83[AMR][1000 genomes]
rs7778995	0.86[AMR][1000 genomes]
rs7779268	0.86[AMR][1000 genomes]
rs7779342	0.86[AMR][1000 genomes]
rs7783606	0.86[AMR][1000 genomes]
rs7783618	0.86[AMR][1000 genomes]
rs7787830	0.83[AMR][1000 genomes]
rs7788790	0.86[AMR][1000 genomes]
rs7789312	0.86[AMR][1000 genomes]
rs7793425	0.86[AMR][1000 genomes]
rs7793510	0.86[AMR][1000 genomes]
rs7798877	0.89[ASN][1000 genomes]
rs7805070	0.86[AMR][1000 genomes]
rs7806230	0.86[AMR][1000 genomes]
rs7808942	0.86[AMR][1000 genomes]
rs7809188	0.86[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3433144	chr7:98777878-99060209	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 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	chr7:98802600-98823400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:98804800-98809600	Enhancers	Fetal Intestine Small	intestine
3	chr7:98805000-98811400	Enhancers	Fetal Intestine Large	intestine
4	chr7:98805400-98809800	Enhancers	Placenta	Placenta
5	chr7:98805400-98811400	Enhancers	Pancreas	Pancrea
6	chr7:98806400-98809600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:98806800-98809200	Enhancers	Liver	Liver
8	chr7:98807400-98809800	Enhancers	HMEC	breast
9	chr7:98807600-98808600	Flanking Active TSS	A549	lung
10	chr7:98807600-98809600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:98807600-98809600	Enhancers	Duodenum Mucosa	Duodenum
12	chr7:98807600-98809800	Enhancers	NHEK	skin
13	chr7:98807600-98810000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:98807800-98809400	Enhancers	Placenta Amnion	Placenta Amnion
15	chr7:98808000-98809200	Enhancers	Hela-S3	cervix
16	chr7:98808200-98809000	Enhancers	HepG2	liver
17	chr7:98808200-98809200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:98808400-98809000	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr7:98808400-98809000	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr7:98808400-98809400	Enhancers	Colonic Mucosa	Colon
21	chr7:98808400-98809400	Enhancers	Esophagus	oesophagus
22	chr7:98808400-98811600	Enhancers	Stomach Mucosa	stomach

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