Variant report

Variant	rs56806434
Chromosome Location	chr4:76472994-76472995
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:76439531..76442512-chr4:76470832..76473735,3	K562	blood:

Variant related genes	Relation type
ENSG00000174796	Chromatin interaction
ENSG00000163743	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1032931	1.00[AMR][1000 genomes]
rs17000620	0.85[AFR][1000 genomes]
rs17000621	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17000639	1.00[ASN][1000 genomes]
rs55708633	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58611626	1.00[ASN][1000 genomes]
rs6847623	1.00[ASN][1000 genomes]
rs6856762	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73825508	1.00[ASN][1000 genomes]
rs73827648	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7676544	1.00[ASN][1000 genomes]
rs7695615	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594687	chr4:76154064-76502748	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv534570	chr4:76214619-76498362	ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76440400-76473200	Weak transcription	Gastric	stomach
2	chr4:76451600-76474400	Weak transcription	Psoas Muscle	Psoas
3	chr4:76452600-76477400	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:76453200-76473600	Weak transcription	Brain Angular Gyrus	brain
5	chr4:76456000-76473000	Weak transcription	HepG2	liver
6	chr4:76456600-76473200	Weak transcription	Fetal Heart	heart
7	chr4:76456800-76474400	Weak transcription	HSMMtube	muscle
8	chr4:76457000-76474400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr4:76458200-76474400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:76458400-76480800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr4:76458800-76473200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr4:76458800-76473200	Weak transcription	Spleen	Spleen
13	chr4:76458800-76480600	Weak transcription	Primary B cells from peripheral blood	blood
14	chr4:76458800-76480600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr4:76459000-76473200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:76459000-76473200	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr4:76460800-76473200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:76461000-76473200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr4:76461200-76473200	Weak transcription	Fetal Lung	lung
20	chr4:76461600-76473000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:76461600-76473000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr4:76464000-76475800	Weak transcription	Lung	lung
23	chr4:76465800-76473600	Weak transcription	Ovary	ovary
24	chr4:76465800-76480600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr4:76467000-76473200	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr4:76468400-76473200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:76468400-76473200	Weak transcription	NHLF	lung
28	chr4:76468400-76473400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr4:76468400-76480800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:76469200-76480200	Weak transcription	NHEK	skin
31	chr4:76470600-76480600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:76470800-76473000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr4:76470800-76473200	Weak transcription	Left Ventricle	heart
34	chr4:76470800-76474600	Enhancers	Placenta	Placenta
35	chr4:76471000-76473000	Weak transcription	Liver	Liver
36	chr4:76471000-76473200	Weak transcription	Adipose Nuclei	Adipose
37	chr4:76471000-76473200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr4:76471000-76473200	Weak transcription	Brain Hippocampus Middle	brain
39	chr4:76471000-76473600	Weak transcription	Fetal Muscle Leg	muscle
40	chr4:76471000-76473800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr4:76471200-76473000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:76471200-76473000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr4:76471200-76473200	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr4:76471200-76473400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr4:76471200-76480400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr4:76471400-76473000	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr4:76471400-76474200	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr4:76471400-76474200	Weak transcription	HSMM	muscle
49	chr4:76471600-76474200	Weak transcription	NH-A	brain
50	chr4:76471800-76480800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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