Variant report

Variant	rs72940708
Chromosome Location	chr3:50624321-50624322
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	chr3:50624179..50629741-chr3:50646689..50652947,9	K562	blood:

Variant related genes	Relation type
ENSG00000114737	Chromatin interaction
ENSG00000114738	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12486717	0.83[EUR][1000 genomes]
rs12489607	0.83[EUR][1000 genomes]
rs12491440	0.83[EUR][1000 genomes]
rs12492093	0.83[EUR][1000 genomes]
rs12492540	0.83[EUR][1000 genomes]
rs12492982	0.83[EUR][1000 genomes]
rs17051043	0.83[EUR][1000 genomes]
rs17051045	0.83[EUR][1000 genomes]
rs17051403	0.83[EUR][1000 genomes]
rs1872184	0.83[EUR][1000 genomes]
rs2076927	0.83[EUR][1000 genomes]
rs2239751	0.83[EUR][1000 genomes]
rs56856095	0.83[EUR][1000 genomes]
rs57910827	0.83[EUR][1000 genomes]
rs59036236	0.83[EUR][1000 genomes]
rs61737505	0.83[EUR][1000 genomes]
rs728902	0.83[EUR][1000 genomes]
rs72942785	0.83[EUR][1000 genomes]
rs72942794	0.83[EUR][1000 genomes]
rs72944726	0.83[EUR][1000 genomes]
rs743753	0.83[EUR][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	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv1001993	chr3:50187646-50640808	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	esv3584502	chr3:50368278-50659741	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active 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	55 gene(s)	inside rSNPs	diseases
4	nsv432419	chr3:50388396-50637496	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1013225	chr3:50440826-50700448	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv536566	chr3:50440826-50700448	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv984540	chr3:50473691-50669310	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv1012501	chr3:50483037-50679591	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
9	nsv536567	chr3:50483037-50679591	Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
10	nsv460533	chr3:50574213-50678151	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv590273	chr3:50574213-50678151	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50607400-50628200	Weak transcription	Small Intestine	intestine
2	chr3:50607600-50628400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:50607800-50628200	Weak transcription	HSMMtube	muscle
4	chr3:50607800-50628600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr3:50608200-50628400	Weak transcription	A549	lung
6	chr3:50608200-50637400	Weak transcription	Fetal Kidney	kidney
7	chr3:50608400-50625600	Weak transcription	NHDF-Ad	bronchial
8	chr3:50610200-50624400	Strong transcription	Fetal Stomach	stomach
9	chr3:50610200-50628000	Weak transcription	Stomach Mucosa	stomach
10	chr3:50610400-50628400	Weak transcription	HSMM	muscle
11	chr3:50610600-50627600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr3:50613400-50628000	Weak transcription	HMEC	breast
13	chr3:50616000-50625800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:50616000-50628600	Weak transcription	Colon Smooth Muscle	Colon
15	chr3:50617600-50626200	Enhancers	Liver	Liver
16	chr3:50617800-50628200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr3:50618000-50628000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr3:50618200-50626200	Enhancers	Right Ventricle	heart
19	chr3:50618200-50626800	Enhancers	Left Ventricle	heart
20	chr3:50619000-50627000	Enhancers	Psoas Muscle	Psoas
21	chr3:50619400-50625400	Enhancers	HepG2	liver
22	chr3:50619400-50628200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr3:50619400-50628200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr3:50619600-50624400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr3:50619600-50624600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr3:50619600-50624600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr3:50619600-50624600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr3:50619600-50628400	Weak transcription	Brain Angular Gyrus	brain
29	chr3:50619800-50628200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr3:50620000-50628600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr3:50620200-50625800	Weak transcription	Primary B cells from peripheral blood	blood
32	chr3:50620200-50626000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr3:50620200-50626000	Weak transcription	NHEK	skin
34	chr3:50620200-50628200	Weak transcription	Fetal Heart	heart
35	chr3:50620400-50628000	Weak transcription	Primary B cells from cord blood	blood
36	chr3:50620400-50628200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr3:50620400-50628400	Weak transcription	NHLF	lung
38	chr3:50620400-50628600	Weak transcription	Brain Anterior Caudate	brain
39	chr3:50620400-50628600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr3:50620400-50628600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr3:50620600-50625600	Weak transcription	Spleen	Spleen
42	chr3:50620600-50626800	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr3:50620800-50628000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr3:50621200-50624600	Enhancers	Placenta	Placenta
45	chr3:50621200-50626000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr3:50621200-50628400	Weak transcription	Brain Substantia Nigra	brain
47	chr3:50621400-50625600	Weak transcription	Esophagus	oesophagus
48	chr3:50621600-50625800	Weak transcription	Thymus	Thymus
49	chr3:50621800-50624400	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr3:50621800-50625200	Genic enhancers	Dnd41	blood

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