Variant report

Variant	rs72709285
Chromosome Location	chr1:175813907-175813908
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:175803143..175807498-chr1:175810197..175814751,4	K562	blood:
2	chr1:175450010..175450941-chr1:175813865..175814693,2	MCF-7	breast:

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10913081	0.82[EUR][1000 genomes]
rs12063716	0.82[EUR][1000 genomes]
rs12755733	1.00[AFR][1000 genomes]
rs4652122	0.82[EUR][1000 genomes]
rs4652123	0.82[EUR][1000 genomes]
rs4652124	0.82[EUR][1000 genomes]
rs475143	0.93[EUR][1000 genomes]
rs485654	0.93[EUR][1000 genomes]
rs504748	0.93[EUR][1000 genomes]
rs515031	0.93[EUR][1000 genomes]
rs537560	0.93[EUR][1000 genomes]
rs562631	0.93[EUR][1000 genomes]
rs57883023	0.82[EUR][1000 genomes]
rs58121069	0.82[EUR][1000 genomes]
rs59691682	0.82[EUR][1000 genomes]
rs61169187	1.00[EUR][1000 genomes]
rs61306614	0.82[EUR][1000 genomes]
rs72709203	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72709205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709218	1.00[EUR][1000 genomes]
rs72709224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709228	1.00[EUR][1000 genomes]
rs72709229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709230	1.00[EUR][1000 genomes]
rs72709231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709233	1.00[EUR][1000 genomes]
rs72709234	1.00[EUR][1000 genomes]
rs72709236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709246	1.00[EUR][1000 genomes]
rs72709250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709257	1.00[EUR][1000 genomes]
rs72709260	1.00[EUR][1000 genomes]
rs72709261	1.00[EUR][1000 genomes]
rs72709265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709266	1.00[EUR][1000 genomes]
rs72709269	1.00[EUR][1000 genomes]
rs72709270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709271	1.00[EUR][1000 genomes]
rs72709274	1.00[EUR][1000 genomes]
rs72709275	1.00[EUR][1000 genomes]
rs72709276	1.00[EUR][1000 genomes]
rs72709278	0.87[EUR][1000 genomes]
rs72709279	1.00[EUR][1000 genomes]
rs72709282	1.00[EUR][1000 genomes]
rs72709283	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709287	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709292	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709295	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709296	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709300	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72711103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72711105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72711106	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72711107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72711108	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72711109	1.00[EUR][1000 genomes]
rs72711110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72711111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72711113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72711116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72711117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72711119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72711120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72711123	1.00[AMR][1000 genomes]
rs72711125	1.00[AMR][1000 genomes]
rs72711126	1.00[AMR][1000 genomes]
rs72711128	1.00[AMR][1000 genomes]
rs72711131	1.00[AMR][1000 genomes]
rs72711143	1.00[AMR][1000 genomes]
rs72711146	1.00[AMR][1000 genomes]
rs72711148	1.00[AMR][1000 genomes]
rs72711151	1.00[AMR][1000 genomes]
rs72711153	1.00[AMR][1000 genomes]
rs72711156	1.00[AMR][1000 genomes]
rs72711158	1.00[AMR][1000 genomes]
rs72713219	1.00[AMR][1000 genomes]
rs72713222	1.00[AMR][1000 genomes]
rs72713225	1.00[AMR][1000 genomes]
rs72713227	1.00[AMR][1000 genomes]
rs72713229	1.00[AMR][1000 genomes]
rs72713231	1.00[AMR][1000 genomes]
rs72713232	1.00[AMR][1000 genomes]
rs72727638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	esv33328	chr1:175446583-175910001	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv872560	chr1:175648631-175869554	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175806600-175817200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:175809400-175814800	Enhancers	Fetal Intestine Large	intestine
3	chr1:175811400-175815800	Enhancers	Hela-S3	cervix
4	chr1:175811800-175814600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr1:175811800-175817400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr1:175811800-175817400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr1:175812400-175816200	Weak transcription	Fetal Brain Male	brain
8	chr1:175813800-175814800	Enhancers	Fetal Intestine Small	intestine

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