Variant report

Variant	rs56133505
Chromosome Location	chr11:72348039-72348040
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11235551	0.89[ASN][1000 genomes]
rs11235556	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11235557	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11235558	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11235559	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12146545	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12276767	0.89[ASN][1000 genomes]
rs12362256	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12363065	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12797368	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12797791	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12804316	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1391888	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs189332	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2035467	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2037030	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs341051	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs341052	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs341060	0.83[ASN][1000 genomes]
rs341061	0.83[ASN][1000 genomes]
rs341062	0.82[ASN][1000 genomes]
rs342322	0.84[ASN][1000 genomes]
rs3758934	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3758935	0.83[EUR][1000 genomes]
rs3758936	0.83[EUR][1000 genomes]
rs3781913	0.84[ASN][1000 genomes]
rs3781916	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3825009	0.88[ASN][1000 genomes]
rs401801	0.86[ASN][1000 genomes]
rs455611	0.99[ASN][1000 genomes]
rs456405	0.85[ASN][1000 genomes]
rs458275	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs458575	0.89[ASN][1000 genomes]
rs61895572	0.89[ASN][1000 genomes]
rs7105428	0.86[ASN][1000 genomes]
rs7119321	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs907853	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs907854	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs907856	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs907857	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs907858	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs932074	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs932075	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	esv1832864	chr11:72270965-72389125	Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	nsv832207	chr11:72272750-72469122	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
4	nsv523601	chr11:72281884-72430935	Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
5	nsv1042182	chr11:72294042-72348491	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	nsv825991	chr11:72320642-72385221	Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
7	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
8	esv1793754	chr11:72335673-72348106	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	esv2325810	chr11:72347875-72348399	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3476819	chr11:72348040-72348201	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 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	chr11:72334800-72350200	Enhancers	Left Ventricle	heart
2	chr11:72335600-72349400	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr11:72335800-72349000	Enhancers	Fetal Brain Male	brain
4	chr11:72335800-72350600	Enhancers	Brain Hippocampus Middle	brain
5	chr11:72336000-72350400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:72337800-72348200	Weak transcription	Gastric	stomach
7	chr11:72338400-72348200	Weak transcription	Ovary	ovary
8	chr11:72339000-72350600	Enhancers	Brain Cingulate Gyrus	brain
9	chr11:72340200-72349400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:72340400-72349400	Enhancers	Fetal Brain Female	brain
11	chr11:72341600-72349400	Enhancers	Brain Anterior Caudate	brain
12	chr11:72342600-72349400	Enhancers	HUVEC	blood vessel
13	chr11:72343400-72348200	Weak transcription	Liver	Liver
14	chr11:72343400-72350200	Enhancers	Right Atrium	heart
15	chr11:72343400-72351000	Weak transcription	Esophagus	oesophagus
16	chr11:72343600-72348600	Weak transcription	Pancreas	Pancrea
17	chr11:72343600-72349600	Bivalent Enhancer	Fetal Stomach	stomach
18	chr11:72343600-72350800	Weak transcription	Brain Substantia Nigra	brain
19	chr11:72343600-72351000	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr11:72344600-72349600	Enhancers	Stomach Smooth Muscle	stomach
21	chr11:72344600-72351600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr11:72345800-72348200	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr11:72345800-72350400	Enhancers	Colon Smooth Muscle	Colon
24	chr11:72346000-72348800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
25	chr11:72346400-72349000	Weak transcription	Psoas Muscle	Psoas
26	chr11:72346400-72349400	Enhancers	H9 Cell Line	embryonic stem cell
27	chr11:72346600-72348800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr11:72346600-72350400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr11:72346800-72348400	Enhancers	H1 Cell Line	embryonic stem cell
30	chr11:72346800-72349000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr11:72346800-72349200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:72346800-72351600	Bivalent Enhancer	Fetal Muscle Leg	muscle
33	chr11:72347000-72348200	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr11:72347000-72350800	Enhancers	Spleen	Spleen
35	chr11:72347200-72348400	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr11:72347200-72348600	Weak transcription	Lung	lung
37	chr11:72347200-72351000	Enhancers	Brain Angular Gyrus	brain
38	chr11:72347400-72348600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:72347400-72349000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
40	chr11:72347400-72349000	Weak transcription	Fetal Lung	lung
41	chr11:72347400-72349200	Weak transcription	Brain Germinal Matrix	brain
42	chr11:72347600-72349400	Enhancers	Hela-S3	cervix
43	chr11:72347600-72351000	Enhancers	Right Ventricle	heart
44	chr11:72347800-72349000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr11:72348000-72348800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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