Variant report

Variant	rs72832809
Chromosome Location	chr2:111529594-111529595
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	chr2:111528095..111529879-chr2:111541436..111543863,2	K562	blood:

Extended variants
information (count: 109 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs13388313	0.92[ASN][1000 genomes]
rs13421709	0.92[ASN][1000 genomes]
rs17041539	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17041553	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17041554	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17041555	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17041561	0.82[EUR][1000 genomes]
rs17464100	0.89[ASN][1000 genomes]
rs28452164	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34026418	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3817265	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4255970	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55682108	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55780486	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55849112	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55857945	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55875504	1.00[EUR][1000 genomes]
rs55875530	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55927063	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56010803	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56031628	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56062220	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56110941	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56146538	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56165253	1.00[EUR][1000 genomes]
rs56169320	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56177778	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56181028	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56202720	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs56238325	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56260092	1.00[EUR][1000 genomes]
rs56272335	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56281800	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56289191	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56320021	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57101781	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57318054	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57847126	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57862073	1.00[EUR][1000 genomes]
rs58054304	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58569659	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58588523	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59258102	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59413237	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60185821	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60357733	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61124407	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61376946	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61637608	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66616139	1.00[EUR][1000 genomes]
rs72828836	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72828838	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72828843	1.00[EUR][1000 genomes]
rs72828844	1.00[EUR][1000 genomes]
rs72828845	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72828846	1.00[EUR][1000 genomes]
rs72828849	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72828851	1.00[EUR][1000 genomes]
rs72828852	1.00[EUR][1000 genomes]
rs72828854	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72828856	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72828857	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72828859	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72828861	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72830976	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72830979	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72830980	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72830982	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72830984	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72830985	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72830986	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72830989	1.00[EUR][1000 genomes]
rs72830990	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72830993	1.00[EUR][1000 genomes]
rs72830995	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72830996	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72830997	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72831000	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832803	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72832804	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832810	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72832812	0.92[ASN][1000 genomes]
rs72832813	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72832815	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72832816	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72832817	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72832818	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72832820	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72832821	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72832822	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72832824	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72832826	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72832828	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72832837	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72832838	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72832839	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72832840	0.89[ASN][1000 genomes]
rs72832841	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72832842	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72832843	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72832846	0.82[EUR][1000 genomes]
rs7592058	0.92[ASN][1000 genomes]
rs977406	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs981196	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874839	chr2:111400934-111868010	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1008758	chr2:111415136-111626467	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv535890	chr2:111415136-111626467	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv997829	chr2:111486961-111780537	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111525000-111531600	Enhancers	H1 Cell Line	embryonic stem cell
2	chr2:111525200-111531000	Weak transcription	Lung	lung
3	chr2:111525800-111530000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr2:111527400-111529800	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr2:111527400-111531800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:111527600-111530200	Enhancers	Right Ventricle	heart
7	chr2:111527600-111530400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:111527600-111530400	Enhancers	Left Ventricle	heart
9	chr2:111527600-111531200	Enhancers	H9 Cell Line	embryonic stem cell
10	chr2:111527600-111531200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr2:111527600-111531600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:111527600-111531600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:111527800-111530000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr2:111527800-111532000	Enhancers	Fetal Lung	lung
15	chr2:111528200-111529800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:111528200-111530800	Enhancers	Fetal Stomach	stomach
17	chr2:111528200-111531000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:111528200-111531600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr2:111528400-111530200	Enhancers	Fetal Thymus	thymus
20	chr2:111528600-111530200	Enhancers	Right Atrium	heart
21	chr2:111528600-111531000	Weak transcription	Esophagus	oesophagus
22	chr2:111528800-111529600	Enhancers	HSMMtube	muscle
23	chr2:111528800-111530000	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr2:111528800-111530400	Enhancers	Fetal Muscle Trunk	muscle
25	chr2:111528800-111531000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr2:111528800-111531000	Weak transcription	Psoas Muscle	Psoas
27	chr2:111528800-111531400	Enhancers	Fetal Brain Female	brain
28	chr2:111528800-111532000	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr2:111529000-111529600	Enhancers	Brain Germinal Matrix	brain
30	chr2:111529000-111529600	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr2:111529000-111529600	Bivalent Enhancer	NHDF-Ad	bronchial
32	chr2:111529000-111530200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
33	chr2:111529000-111530200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr2:111529000-111531200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr2:111529000-111532000	Enhancers	Fetal Heart	heart
36	chr2:111529200-111529600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:111529200-111529600	Bivalent Enhancer	HSMM	muscle
38	chr2:111529200-111530200	Enhancers	Stomach Smooth Muscle	stomach
39	chr2:111529200-111531000	Weak transcription	Brain Anterior Caudate	brain
40	chr2:111529200-111531600	Enhancers	Fetal Brain Male	brain
41	chr2:111529200-111532000	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr2:111529400-111529600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:111529400-111530800	Weak transcription	Adipose Nuclei	Adipose
44	chr2:111529400-111531200	Weak transcription	Colon Smooth Muscle	Colon
45	chr2:111529400-111531400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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