Variant report

Variant	rs12705043
Chromosome Location	chr7:98806158-98806159
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	GTF3C2	chr7:98805427-98806606	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr7:98805527-98806331	Hela-S3	cervix:	n/a	n/a
3	GATA3	chr7:98805449-98806207	MCF-7	breast:	n/a	n/a
4	SP1	chr7:98805387-98806429	A549	lung:	n/a	n/a
5	FOSL2	chr7:98805439-98806171	A549	lung:	n/a	n/a
6	TCF12	chr7:98805418-98806212	A549	lung:	n/a	n/a
7	TCF7L2	chr7:98805689-98806383	Hela-S3	cervix:	n/a	n/a
8	GATA3	chr7:98805416-98806206	A549	lung:	n/a	n/a
9	SP1	chr7:98805430-98806386	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:98738526..98746153-chr7:98804876..98809686,18	MCF-7	breast:

Variant related genes	Relation type
KPNA7	TF binding region
ENSG00000198742	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]
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]
rs12705048	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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98801400-98807600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr7:98802600-98823400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:98803600-98807800	Enhancers	Stomach Mucosa	stomach
4	chr7:98804400-98807800	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr7:98804800-98809600	Enhancers	Fetal Intestine Small	intestine
6	chr7:98805000-98806400	Enhancers	HMEC	breast
7	chr7:98805000-98811400	Enhancers	Fetal Intestine Large	intestine
8	chr7:98805200-98806200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr7:98805200-98806400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr7:98805400-98806200	Active TSS	A549	lung
11	chr7:98805400-98806400	Enhancers	Duodenum Mucosa	Duodenum
12	chr7:98805400-98809800	Enhancers	Placenta	Placenta
13	chr7:98805400-98811400	Enhancers	Pancreas	Pancrea
14	chr7:98805600-98806400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:98805600-98806400	Enhancers	NHEK	skin
16	chr7:98805600-98806800	Weak transcription	Colonic Mucosa	Colon
17	chr7:98805800-98806200	Active TSS	Hela-S3	cervix
18	chr7:98805800-98806800	Weak transcription	Liver	Liver
19	chr7:98805800-98807600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:98805800-98807800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:98805800-98807800	Enhancers	HepG2	liver

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