Variant report

Variant	rs72709228
Chromosome Location	chr1:175778282-175778283
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:175773915..175775509-chr1:175777011..175778616,2	K562	blood:

Extended variants
information (count: 77 )
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]
rs72709218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709224	1.00[EUR][1000 genomes]
rs72709226	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: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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175773600-175779000	Weak transcription	Pancreas	Pancrea
2	chr1:175777000-175778800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr1:175777600-175779200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr1:175777600-175779200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr1:175777600-175779600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr1:175777800-175778600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:175777800-175778600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr1:175777800-175778800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr1:175777800-175779400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr1:175777800-175779600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:175777800-175780000	Enhancers	Brain Germinal Matrix	brain
12	chr1:175778000-175778600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr1:175778000-175778600	Enhancers	H1 Cell Line	embryonic stem cell
14	chr1:175778000-175779400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:175778200-175778400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:175778200-175778400	Enhancers	Brain Hippocampus Middle	brain
17	chr1:175778200-175778600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:175778200-175778600	Enhancers	Fetal Brain Male	brain
19	chr1:175778200-175779600	Enhancers	Fetal Brain Female	brain

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