Variant report

Variant	rs73293893
Chromosome Location	chr7:27775174-27775175
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	NFIC	chr7:27774662-27775200	HepG2	liver:	n/a	n/a
2	NR2F2	chr7:27774613-27775274	HepG2	liver:	n/a	chr7:27774975-27774990
3	CEBPB	chr7:27774725-27775255	MCF-7	breast:	n/a	n/a
4	FOXA1	chr7:27774762-27775187	HepG2	liver:	n/a	chr7:27774877-27774892
5	CEBPB	chr7:27774824-27775174	HepG2	liver:	n/a	n/a
6	FOXA1	chr7:27774683-27775187	HepG2	liver:	n/a	chr7:27774877-27774892
7	EP300	chr7:27774805-27775197	HepG2	liver:	n/a	n/a
8	GATA3	chr7:27774727-27775215	MCF-7	breast:	n/a	n/a
9	FOSL2	chr7:27774613-27775190	A549	lung:	n/a	chr7:27774829-27774839 chr7:27774829-27774839
10	TEAD4	chr7:27774594-27775249	HepG2	liver:	n/a	n/a
11	GATA3	chr7:27774489-27775294	MCF-7	breast:	n/a	n/a
12	NR2F2	chr7:27774616-27775335	MCF-7	breast:	n/a	chr7:27774975-27774990
13	SP1	chr7:27774784-27775221	HepG2	liver:	n/a	n/a
14	FOXA1	chr7:27774557-27775242	HepG2	liver:	n/a	chr7:27774877-27774892
15	NR2F2	chr7:27774376-27775374	MCF-7	breast:	n/a	chr7:27774975-27774990
16	NR2F2	chr7:27774696-27775228	HepG2	liver:	n/a	chr7:27774975-27774990
17	ZNF217	chr7:27774836-27775219	MCF-7	breast:	n/a	n/a
18	FOXA2	chr7:27774290-27775520	HepG2	liver:	n/a	n/a
19	ARID3A	chr7:27774686-27775229	HepG2	liver:	n/a	n/a
20	TCF12	chr7:27774578-27775324	A549	lung:	n/a	n/a
21	HDAC2	chr7:27774763-27775236	MCF-7	breast:	n/a	n/a
22	MYBL2	chr7:27774606-27775178	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27773133..27776591-chr7:27778404..27780614,3	MCF-7	breast:

Variant related genes	Relation type
TAX1BP1	TF binding region
ENSG00000229893	Chromatin interaction
ENSG00000106052	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10486560	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11981473	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11981639	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11982051	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17155661	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17155671	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17155769	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17155774	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17155787	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17155813	0.87[AMR][1000 genomes]
rs17155815	0.87[AMR][1000 genomes]
rs17155818	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4299908	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4722731	0.88[AFR][1000 genomes]
rs57293935	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57355732	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs59134341	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60524058	1.00[AMR][1000 genomes]
rs60811898	1.00[AMR][1000 genomes]
rs61226834	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6462046	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6942560	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6952476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6958438	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6958646	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6963125	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6969000	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs73293835	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293838	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293842	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293856	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293862	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293868	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293888	0.97[AFR][1000 genomes]
rs73295504	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295519	0.89[AMR][1000 genomes]
rs73295543	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295545	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295567	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297523	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297535	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7783141	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7783426	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7803672	0.84[AFR][1000 genomes];0.89[AMR][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	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1028469	chr7:27767795-27939667	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr7:27760000-27778800	Weak transcription	HSMMtube	muscle
2	chr7:27770000-27778600	Weak transcription	Right Atrium	heart
3	chr7:27770600-27775400	Weak transcription	Pancreas	Pancrea
4	chr7:27771200-27775400	Weak transcription	Gastric	stomach
5	chr7:27772800-27778800	Enhancers	Fetal Intestine Small	intestine
6	chr7:27773000-27776000	Enhancers	HepG2	liver
7	chr7:27773600-27778600	Enhancers	Fetal Intestine Large	intestine
8	chr7:27774200-27775200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:27774200-27775600	Enhancers	A549	lung
10	chr7:27774200-27775800	Enhancers	Liver	Liver
11	chr7:27774200-27775800	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr7:27774400-27775400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:27774400-27775600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr7:27774600-27775200	Enhancers	Hela-S3	cervix
15	chr7:27774600-27776600	Weak transcription	K562	blood
16	chr7:27774600-27776800	Weak transcription	Stomach Mucosa	stomach
17	chr7:27774600-27779000	Weak transcription	Small Intestine	intestine
18	chr7:27774800-27775800	Enhancers	Fetal Lung	lung
19	chr7:27774800-27778400	Weak transcription	HUVEC	blood vessel
20	chr7:27775000-27775200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr7:27775000-27775600	Active TSS	Duodenum Mucosa	Duodenum

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