Variant report

Variant	rs56927744
Chromosome Location	chr7:107104539-107104540
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:107095839..107098568-chr7:107102987..107104881,2	K562	blood:
2	chr7:107102189..107104759-chr7:107219342..107222383,3	MCF-7	breast:
3	chr7:107103654..107106333-chr7:107361202..107363848,2	MCF-7	breast:
4	chr7:107103659..107104752-chr7:107365120..107365910,4	K562	blood:

Variant related genes	Relation type
ENSG00000272854	Chromatin interaction
ENSG00000075790	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs17154159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17154167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55840928	0.81[AFR][1000 genomes]
rs58218888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58800910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59865183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60193047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73724068	0.81[AFR][1000 genomes]
rs73724069	0.81[AFR][1000 genomes]
rs73724070	0.81[AFR][1000 genomes]
rs73724516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73724517	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73724519	1.00[AFR][1000 genomes]
rs73724520	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73724521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73724523	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73724525	1.00[AMR][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	esv1825788	chr7:106897237-107136320	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1024793	chr7:106900877-107170312	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv1832266	chr7:106961882-107136320	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv1019963	chr7:107033342-107188641	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv539052	chr7:107033342-107188641	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107035800-107133000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr7:107052600-107126400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr7:107067600-107119800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:107079600-107108600	Weak transcription	Right Ventricle	heart
5	chr7:107082800-107109000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:107083400-107104600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:107083400-107115400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr7:107084400-107109200	Weak transcription	Fetal Intestine Large	intestine
9	chr7:107087800-107112000	Weak transcription	NHDF-Ad	bronchial
10	chr7:107088600-107126000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr7:107090000-107114600	Weak transcription	Primary T cells from cord blood	blood
12	chr7:107090800-107104800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:107090800-107146000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:107091000-107145800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr7:107097000-107112200	Weak transcription	Fetal Lung	lung
16	chr7:107098000-107108000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr7:107098800-107132600	Weak transcription	Primary B cells from cord blood	blood
18	chr7:107099600-107110400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:107101800-107105600	Enhancers	Fetal Heart	heart
20	chr7:107102200-107105600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:107103000-107104800	Weak transcription	Brain Substantia Nigra	brain
22	chr7:107103000-107105200	Weak transcription	Brain Hippocampus Middle	brain
23	chr7:107103200-107105200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr7:107103400-107105400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr7:107103400-107105400	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr7:107103600-107110000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr7:107103800-107104600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr7:107103800-107104800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr7:107103800-107105000	Weak transcription	Brain Anterior Caudate	brain
30	chr7:107103800-107105400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr7:107103800-107105400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr7:107103800-107109800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr7:107104200-107104600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:107104200-107104800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:107104200-107104800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:107104200-107105000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr7:107104200-107118000	Weak transcription	NHEK	skin
38	chr7:107104200-107121000	Weak transcription	K562	blood
39	chr7:107104400-107104600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr7:107104400-107109800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:107104400-107110400	Weak transcription	Left Ventricle	heart
42	chr7:107104400-107112400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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