Variant report

Variant	rs72940091
Chromosome Location	chr3:112287193-112287194
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	chr3:112285735..112288489-chr3:112291503..112294225,2	K562	blood:
2	chr3:112279902..112282989-chr3:112283976..112287292,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138459	Chromatin interaction
ENSG00000144848	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs13070342	0.94[AFR][1000 genomes]
rs57937078	1.00[AMR][1000 genomes]
rs59090018	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938420	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938422	1.00[AMR][1000 genomes]
rs72938432	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938438	1.00[AMR][1000 genomes]
rs72938454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72940009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72940020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72940024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72940046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72940050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72940078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72940083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72940099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942068	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942074	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942077	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942080	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942089	1.00[AMR][1000 genomes]
rs72943904	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877342	chr3:112185025-112332629	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active 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	28 gene(s)	inside rSNPs	diseases
2	esv3329419	chr3:112236688-112620544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv591301	chr3:112252532-112332629	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112281800-112289800	Weak transcription	HSMMtube	muscle
2	chr3:112281800-112290400	Weak transcription	Lung	lung
3	chr3:112281800-112291400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:112281800-112299400	Weak transcription	Left Ventricle	heart
5	chr3:112281800-112301600	Weak transcription	HepG2	liver
6	chr3:112281800-112312000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:112281800-112315400	Weak transcription	Pancreas	Pancrea
8	chr3:112281800-112324200	Weak transcription	Spleen	Spleen
9	chr3:112281800-112325400	Weak transcription	Gastric	stomach
10	chr3:112282000-112287200	Weak transcription	Aorta	Aorta
11	chr3:112282000-112288200	Weak transcription	Ovary	ovary
12	chr3:112282000-112289600	Weak transcription	Colonic Mucosa	Colon
13	chr3:112282000-112312200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr3:112282000-112330400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:112282000-112330600	Weak transcription	Esophagus	oesophagus
16	chr3:112282200-112287200	Weak transcription	HSMM	muscle
17	chr3:112282200-112303400	Weak transcription	Psoas Muscle	Psoas
18	chr3:112282400-112287400	Weak transcription	NH-A	brain
19	chr3:112282400-112287400	Weak transcription	Osteobl	bone
20	chr3:112282400-112288200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr3:112282400-112289000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr3:112282400-112289200	Weak transcription	Brain Substantia Nigra	brain
23	chr3:112282400-112289800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr3:112282400-112290400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:112282400-112290400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr3:112282400-112291200	Weak transcription	NHLF	lung
27	chr3:112282400-112291800	Weak transcription	Fetal Kidney	kidney
28	chr3:112282400-112299400	Weak transcription	Fetal Stomach	stomach
29	chr3:112282400-112301600	Weak transcription	Hela-S3	cervix
30	chr3:112282400-112304400	Weak transcription	Fetal Heart	heart
31	chr3:112282400-112306600	Weak transcription	Right Ventricle	heart
32	chr3:112282400-112307200	Weak transcription	Small Intestine	intestine
33	chr3:112282400-112312400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr3:112282400-112316800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr3:112282400-112322800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr3:112282400-112324200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr3:112282400-112340000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr3:112282600-112287200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr3:112282600-112287400	Weak transcription	HUVEC	blood vessel
40	chr3:112282600-112287600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr3:112282600-112288200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr3:112282600-112288200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr3:112282600-112289600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr3:112282600-112291800	Weak transcription	NHDF-Ad	bronchial
45	chr3:112282600-112297200	Weak transcription	Thymus	Thymus
46	chr3:112282600-112298200	Weak transcription	NHEK	skin
47	chr3:112282600-112301200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr3:112282600-112301400	Weak transcription	A549	lung
49	chr3:112282600-112306800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr3:112282800-112287200	Weak transcription	Brain Cingulate Gyrus	brain

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