Variant report

Variant	rs72991239
Chromosome Location	chr11:74442083-74442084
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:74440853..74443969-chr11:74454724..74458008,3	K562	blood:
2	chr11:74441741..74443246-chr11:74464573..74467415,2	K562	blood:

Variant related genes	Relation type
ENSG00000264095	Chromatin interaction
ENSG00000227615	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10160407	1.00[ASN][1000 genomes]
rs11236224	1.00[ASN][1000 genomes]
rs11236229	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236247	1.00[ASN][1000 genomes]
rs11236249	1.00[ASN][1000 genomes]
rs11236259	1.00[ASN][1000 genomes]
rs11501909	1.00[ASN][1000 genomes]
rs11501910	1.00[ASN][1000 genomes]
rs12270712	1.00[ASN][1000 genomes]
rs12271211	1.00[ASN][1000 genomes]
rs12272764	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12274227	1.00[ASN][1000 genomes]
rs12275056	1.00[ASN][1000 genomes]
rs12278314	1.00[ASN][1000 genomes]
rs12283412	1.00[ASN][1000 genomes]
rs12283768	1.00[ASN][1000 genomes]
rs12284331	1.00[ASN][1000 genomes]
rs12286425	1.00[ASN][1000 genomes]
rs12286482	1.00[ASN][1000 genomes]
rs12287287	1.00[ASN][1000 genomes]
rs12288052	1.00[ASN][1000 genomes]
rs12290339	1.00[ASN][1000 genomes]
rs4133526	1.00[ASN][1000 genomes]
rs56306513	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57031821	1.00[ASN][1000 genomes]
rs59481855	1.00[ASN][1000 genomes]
rs6592593	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7109667	1.00[ASN][1000 genomes]
rs7125078	1.00[ASN][1000 genomes]
rs7128783	1.00[ASN][1000 genomes]
rs72991236	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72991244	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73490680	1.00[ASN][1000 genomes]
rs73490691	1.00[ASN][1000 genomes]
rs73492727	1.00[ASN][1000 genomes]
rs73492743	1.00[ASN][1000 genomes]
rs73492794	1.00[ASN][1000 genomes]
rs73496929	1.00[ASN][1000 genomes]
rs73496931	1.00[ASN][1000 genomes]
rs7928010	1.00[ASN][1000 genomes]
rs7947106	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9943586	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers 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	83 gene(s)	inside rSNPs	diseases
6	nsv932190	chr11:74359867-74618935	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74441200-74443000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
2	chr11:74441200-74443200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr11:74441400-74442200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
4	chr11:74441400-74443000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr11:74441600-74442200	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:74441600-74442200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:74441600-74442200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
8	chr11:74441600-74442400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:74441600-74442400	Bivalent Enhancer	Esophagus	oesophagus
10	chr11:74441600-74442600	Bivalent/Poised TSS	Psoas Muscle	Psoas
11	chr11:74441600-74442800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr11:74441600-74442800	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:74441600-74443000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
14	chr11:74441600-74443000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
15	chr11:74441600-74443200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr11:74441800-74442200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:74441800-74442200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:74441800-74442200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:74441800-74442200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr11:74441800-74442200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr11:74441800-74442200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:74441800-74442200	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
23	chr11:74441800-74442200	Bivalent Enhancer	Brain Hippocampus Middle	brain
24	chr11:74441800-74442200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
25	chr11:74441800-74442200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
26	chr11:74441800-74442200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
27	chr11:74441800-74442200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
28	chr11:74441800-74442200	Bivalent Enhancer	Stomach Mucosa	stomach
29	chr11:74441800-74442400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:74441800-74442400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
31	chr11:74441800-74442600	Bivalent/Poised TSS	Left Ventricle	heart
32	chr11:74441800-74442600	Bivalent Enhancer	HMEC	breast
33	chr11:74441800-74443000	Bivalent Enhancer	Liver	Liver
34	chr11:74441800-74443000	Bivalent Enhancer	Fetal Heart	heart
35	chr11:74441800-74443000	Enhancers	Pancreas	Pancrea
36	chr11:74442000-74442200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:74442000-74442200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr11:74442000-74442200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
39	chr11:74442000-74442200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
40	chr11:74442000-74442200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:74442000-74442200	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
42	chr11:74442000-74442200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
43	chr11:74442000-74442200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:74442000-74442200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
45	chr11:74442000-74442200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
46	chr11:74442000-74442200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
47	chr11:74442000-74442200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:74442000-74442200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
49	chr11:74442000-74442200	Bivalent Enhancer	Fetal Lung	lung
50	chr11:74442000-74442200	Flanking Active TSS	Right Atrium	heart

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