Variant report

Variant	rs72924800
Chromosome Location	chr11:65663606-65663607
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65661660..65664635-chr11:65790065..65792086,2	K562	blood:
2	chr11:65546603..65549326-chr11:65663288..65664841,2	K562	blood:
3	chr11:65541575..65543140-chr11:65661807..65663676,2	K562	blood:
4	chr11:65537505..65539315-chr11:65661843..65663867,2	MCF-7	breast:
5	chr11:64509223..64512126-chr11:65661954..65663646,2	K562	blood:
6	chr11:65547826..65549920-chr11:65663341..65665102,2	K562	blood:

Variant related genes	Relation type
ENSG00000175827	Chromatin interaction
ENSG00000068831	Chromatin interaction
ENSG00000254470	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12418103	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12418781	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs35461885	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3867128	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59416249	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
2	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
3	esv2758274	chr11:65559893-65722363	Genic enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	esv2759834	chr11:65559893-65722363	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv427890	chr11:65559893-65722363	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv897761	chr11:65580638-65738566	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
7	nsv555215	chr11:65581579-65676516	Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
8	nsv897762	chr11:65613218-65758854	Active TSS Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	185 gene(s)	inside rSNPs	diseases
9	nsv897764	chr11:65613348-65695222	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
10	nsv897765	chr11:65623708-65758854	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
11	nsv832191	chr11:65632329-65806120	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65659800-65665800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr11:65659800-65665800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:65660200-65665800	Genic enhancers	K562	blood
4	chr11:65660600-65666600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:65660600-65666600	Weak transcription	Pancreas	Pancrea
6	chr11:65661200-65666600	Weak transcription	Small Intestine	intestine
7	chr11:65661400-65666400	Weak transcription	Stomach Mucosa	stomach
8	chr11:65661600-65663800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:65661800-65664800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:65661800-65666600	Weak transcription	Right Atrium	heart
11	chr11:65662000-65664600	Genic enhancers	HUVEC	blood vessel
12	chr11:65662000-65665200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr11:65662000-65665800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr11:65662000-65666000	Weak transcription	Adipose Nuclei	Adipose
15	chr11:65662000-65666000	Weak transcription	Colon Smooth Muscle	Colon
16	chr11:65662000-65666000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr11:65662000-65666400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr11:65662000-65666400	Weak transcription	Brain Anterior Caudate	brain
19	chr11:65662000-65666400	Weak transcription	Esophagus	oesophagus
20	chr11:65662000-65666400	Weak transcription	Placenta	Placenta
21	chr11:65662000-65666400	Weak transcription	Spleen	Spleen
22	chr11:65662000-65666600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr11:65662200-65663800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:65662200-65665800	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr11:65662200-65665800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr11:65662200-65666200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr11:65662200-65666200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr11:65662200-65666200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr11:65662200-65666400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr11:65662400-65665800	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr11:65662600-65664200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:65662600-65665800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:65662800-65664000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
34	chr11:65662800-65664000	Strong transcription	HSMMtube	muscle
35	chr11:65662800-65665600	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
36	chr11:65662800-65666600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:65662800-65666800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
38	chr11:65662800-65667400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr11:65663000-65664000	Strong transcription	Right Ventricle	heart
40	chr11:65663000-65664200	Strong transcription	HepG2	liver
41	chr11:65663000-65664200	Genic enhancers	NH-A	brain
42	chr11:65663000-65664600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr11:65663000-65664800	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr11:65663000-65664800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:65663000-65665000	Genic enhancers	A549	lung
46	chr11:65663000-65665400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:65663000-65665600	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
48	chr11:65663000-65666000	Genic enhancers	Hela-S3	cervix
49	chr11:65663000-65666200	Transcr. at gene 5' and 3'	HSMM	muscle
50	chr11:65663000-65666200	Transcr. at gene 5' and 3'	Osteobl	bone

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