Variant report

Variant	rs72731058
Chromosome Location	chr1:193089482-193089483
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CUX1	chr1:193089453-193090304	K562	blood:	n/a	n/a
2	SMARCB1	chr1:193089264-193092304	K562	blood:	n/a	n/a
3	EP300	chr1:193089302-193090378	K562	blood:	n/a	n/a
4	ARID3A	chr1:193089184-193091636	K562	blood:	n/a	n/a
5	JUN	chr1:193089482-193090401	K562	blood:	n/a	n/a
6	MYC	chr1:193088542-193091867	K562	blood:	n/a	chr1:193090815-193090830

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:193025655..193031465-chr1:193087281..193093381,17	MCF-7	breast:
2	chr1:193071491..193076891-chr1:193086924..193094906,44	MCF-7	breast:
3	chr1:193082948..193084568-chr1:193088755..193090637,2	MCF-7	breast:
4	chr1:193071213..193080146-chr1:193088491..193094639,51	MCF-7	breast:
5	chr1:193020543..193046917-chr1:193069266..193098746,125	K562	blood:
6	chr1:193089186..193093634-chr1:193104182..193110601,11	MCF-7	breast:
7	chr1:193018810..193043703-chr1:193079188..193098601,93	K562	blood:
8	chr1:192778197..192780684-chr1:193088490..193091041,2	K562	blood:
9	chr1:193025349..193030732-chr1:193089240..193093287,15	MCF-7	breast:

No data

Variant related genes	Relation type
CDC73	TF binding region
ENSG00000116741	Chromatin interaction
ENSG00000023572	Chromatin interaction
ENSG00000238754	Chromatin interaction
ENSG00000221680	Chromatin interaction
ENSG00000116750	Chromatin interaction
ENSG00000116747	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10494675	0.86[EUR][1000 genomes]
rs10801186	0.86[EUR][1000 genomes]
rs12122868	0.80[EUR][1000 genomes]
rs12123069	0.80[EUR][1000 genomes]
rs12123750	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12123793	0.86[EUR][1000 genomes]
rs12124921	0.80[EUR][1000 genomes]
rs12124924	0.80[EUR][1000 genomes]
rs12128125	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12129126	0.80[EUR][1000 genomes]
rs12135670	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12141029	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12141559	0.86[EUR][1000 genomes]
rs12143361	0.86[EUR][1000 genomes]
rs12143573	0.91[EUR][1000 genomes]
rs12145101	0.91[EUR][1000 genomes]
rs12145609	0.86[EUR][1000 genomes]
rs1325196	0.86[EUR][1000 genomes]
rs17526825	0.91[EUR][1000 genomes]
rs17592121	0.97[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs17592633	0.86[EUR][1000 genomes]
rs28930673	0.86[EUR][1000 genomes]
rs28930674	0.86[EUR][1000 genomes]
rs6667917	0.91[EUR][1000 genomes]
rs6682904	0.80[EUR][1000 genomes]
rs72731066	0.97[EUR][1000 genomes]
rs72731068	0.91[EUR][1000 genomes]
rs72740227	0.80[EUR][1000 genomes]
rs72740228	0.80[EUR][1000 genomes]
rs72740230	0.80[EUR][1000 genomes]
rs7525157	0.88[AFR][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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193075000-193090400	Weak transcription	Right Atrium	heart
2	chr1:193081200-193090400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:193081600-193090600	Weak transcription	Lung	lung
4	chr1:193083200-193090200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:193083400-193090200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:193085200-193090200	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr1:193085400-193090000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:193085400-193090000	Weak transcription	NH-A	brain
9	chr1:193085400-193090000	Weak transcription	NHEK	skin
10	chr1:193085400-193090200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr1:193085400-193090200	Weak transcription	Small Intestine	intestine
12	chr1:193085400-193090200	Weak transcription	NHLF	lung
13	chr1:193085600-193090000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr1:193085600-193090200	Weak transcription	Fetal Intestine Small	intestine
15	chr1:193085600-193090200	Weak transcription	HMEC	breast
16	chr1:193085600-193090400	Weak transcription	Hela-S3	cervix
17	chr1:193085600-193090600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:193085800-193090200	Weak transcription	Liver	Liver
19	chr1:193085800-193090400	Weak transcription	HSMMtube	muscle
20	chr1:193086200-193090200	Weak transcription	HepG2	liver
21	chr1:193087600-193092800	Active TSS	K562	blood
22	chr1:193088200-193090200	Enhancers	A549	lung
23	chr1:193088600-193090200	Weak transcription	GM12878-XiMat	blood
24	chr1:193089000-193090200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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