Variant report

Variant	rs71327065
Chromosome Location	chr3:46483630-46483631
allele	A/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	MAFK	chr3:46483594-46483924	HepG2	liver:	n/a	chr3:46483769-46483784
2	MAFF	chr3:46483614-46483889	HepG2	liver:	n/a	chr3:46483768-46483786
3	BRCA1	chr3:46483617-46483756	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
LTF	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11574430	0.86[ASN][1000 genomes]
rs11574436	0.86[ASN][1000 genomes]
rs11574442	0.86[ASN][1000 genomes]
rs13064957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13070740	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17141101	0.86[ASN][1000 genomes]
rs17285143	0.91[ASN][1000 genomes]
rs17782551	0.82[ASN][1000 genomes]
rs17782618	0.82[ASN][1000 genomes]
rs17782636	0.82[ASN][1000 genomes]
rs2157053	0.82[ASN][1000 genomes]
rs2157055	0.91[ASN][1000 genomes]
rs2373245	0.91[ASN][1000 genomes]
rs2373250	0.91[ASN][1000 genomes]
rs2373251	0.91[ASN][1000 genomes]
rs3204850	0.86[ASN][1000 genomes]
rs34003820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34200951	0.82[ASN][1000 genomes]
rs34245951	0.91[ASN][1000 genomes]
rs34265215	0.91[ASN][1000 genomes]
rs34445409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34671664	0.91[ASN][1000 genomes]
rs34827868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34904359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34927844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34997818	0.91[ASN][1000 genomes]
rs35088929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35118578	0.82[ASN][1000 genomes]
rs35386789	0.82[ASN][1000 genomes]
rs35568430	0.86[ASN][1000 genomes]
rs35878193	0.82[ASN][1000 genomes]
rs35883833	0.91[ASN][1000 genomes]
rs36020695	0.91[ASN][1000 genomes]
rs36030692	0.91[ASN][1000 genomes]
rs36114837	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4547741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5015750	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6806951	0.82[ASN][1000 genomes]
rs71327062	0.82[ASN][1000 genomes]
rs71327063	0.91[ASN][1000 genomes]
rs71327066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7633268	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][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	esv3323840	chr3:46352348-46497196	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv3389382	chr3:46352798-46496696	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1014624	chr3:46463424-46549188	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv1013306	chr3:46469014-46698538	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46455800-46496800	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr3:46459400-46491600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr3:46465200-46488800	Weak transcription	Left Ventricle	heart
4	chr3:46465200-46488800	Weak transcription	Right Ventricle	heart
5	chr3:46477400-46484200	Weak transcription	Fetal Intestine Small	intestine
6	chr3:46479600-46485000	Enhancers	Primary T cells from cord blood	blood
7	chr3:46479600-46487000	Enhancers	Fetal Thymus	thymus
8	chr3:46479800-46485000	Enhancers	Dnd41	blood
9	chr3:46480200-46484200	Enhancers	Primary B cells from peripheral blood	blood
10	chr3:46480200-46504000	Weak transcription	Lung	lung
11	chr3:46481000-46488800	Strong transcription	Spleen	Spleen
12	chr3:46481200-46485800	Weak transcription	Gastric	stomach
13	chr3:46481800-46484200	Enhancers	Primary B cells from cord blood	blood
14	chr3:46482000-46484000	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr3:46482200-46483800	Enhancers	Primary T cells fromperipheralblood	blood
16	chr3:46482200-46483800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr3:46482200-46484000	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr3:46482200-46484200	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr3:46482200-46485000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr3:46482200-46485000	Enhancers	Fetal Brain Male	brain
21	chr3:46482400-46485200	Enhancers	Fetal Lung	lung
22	chr3:46483000-46486800	Weak transcription	Pancreas	Pancrea
23	chr3:46483000-46488600	Weak transcription	Adipose Nuclei	Adipose
24	chr3:46483400-46484400	Weak transcription	Fetal Stomach	stomach
25	chr3:46483400-46486800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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