Variant report

Variant	rs72709218
Chromosome Location	chr1:175766400-175766401
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:175759186..175762304-chr1:175765098..175768230,3	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10913081	0.82[EUR][1000 genomes]
rs12063716	0.82[EUR][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]
rs56807556	0.92[AFR][1000 genomes]
rs57883023	0.82[EUR][1000 genomes]
rs58121069	0.82[EUR][1000 genomes]
rs59691682	0.82[EUR][1000 genomes]
rs61169187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61306614	0.82[EUR][1000 genomes]
rs72709203	0.93[EUR][1000 genomes]
rs72709205	1.00[EUR][1000 genomes]
rs72709207	1.00[EUR][1000 genomes]
rs72709212	1.00[EUR][1000 genomes]
rs72709224	1.00[EUR][1000 genomes]
rs72709226	1.00[EUR][1000 genomes]
rs72709228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709229	1.00[EUR][1000 genomes]
rs72709230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709231	1.00[EUR][1000 genomes]
rs72709233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709236	1.00[EUR][1000 genomes]
rs72709237	1.00[EUR][1000 genomes]
rs72709245	1.00[EUR][1000 genomes]
rs72709246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709250	1.00[EUR][1000 genomes]
rs72709253	1.00[EUR][1000 genomes]
rs72709257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709265	1.00[EUR][1000 genomes]
rs72709266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709270	1.00[EUR][1000 genomes]
rs72709271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72709279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709283	1.00[EUR][1000 genomes]
rs72709285	1.00[EUR][1000 genomes]
rs72709287	1.00[EUR][1000 genomes]
rs72709289	1.00[EUR][1000 genomes]
rs72709290	1.00[EUR][1000 genomes]
rs72709292	1.00[EUR][1000 genomes]
rs72709293	1.00[EUR][1000 genomes]
rs72709295	1.00[EUR][1000 genomes]
rs72709296	1.00[EUR][1000 genomes]
rs72709299	1.00[EUR][1000 genomes]
rs72709300	1.00[EUR][1000 genomes]
rs72709302	1.00[EUR][1000 genomes]
rs72711103	1.00[EUR][1000 genomes]
rs72711105	1.00[EUR][1000 genomes]
rs72711106	1.00[EUR][1000 genomes]
rs72711107	1.00[EUR][1000 genomes]
rs72711108	1.00[EUR][1000 genomes]
rs72711109	1.00[EUR][1000 genomes]
rs72711110	1.00[EUR][1000 genomes]
rs72711111	1.00[EUR][1000 genomes]
rs72711113	1.00[EUR][1000 genomes]
rs72711116	0.93[EUR][1000 genomes]
rs72711117	0.93[EUR][1000 genomes]
rs72711119	0.93[EUR][1000 genomes]
rs72711120	0.93[EUR][1000 genomes]
rs72727638	1.00[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	nsv548245	chr1:175430855-175772378	ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	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
3	nsv831959	chr1:175576384-175776729	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175761400-175770000	Weak transcription	Pancreas	Pancrea
2	chr1:175764800-175769400	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:175765200-175767600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:175765400-175766400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:175765600-175770600	Weak transcription	Fetal Heart	heart
6	chr1:175766200-175766400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:175766200-175766800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:175766200-175767000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr1:175766200-175767000	Enhancers	Aorta	Aorta
10	chr1:175766200-175767200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:175766200-175767400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr1:175766400-175766600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr1:175766400-175766800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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