Variant report

Variant	rs567297976
Chromosome Location	chr4:75074288-75074289
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1004768	chr4:74774372-75109579	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1006218	chr4:74782324-75105424	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv594683	chr4:75013441-75106485	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1013260	chr4:75013441-75121643	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1002907	chr4:75013441-75131443	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1004706	chr4:75014770-75121643	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv594684	chr4:75015750-75106485	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	esv2760892	chr4:75073700-75085646	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:75024800-75080600	Weak transcription	Left Ventricle	heart
2	chr4:75056800-75096600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr4:75059200-75081000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr4:75060000-75080200	Weak transcription	Dnd41	blood
5	chr4:75063800-75076600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr4:75064200-75096400	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr4:75064400-75075000	Weak transcription	Spleen	Spleen
8	chr4:75065000-75086200	Weak transcription	Psoas Muscle	Psoas
9	chr4:75066200-75075000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr4:75066600-75074800	Weak transcription	Fetal Brain Female	brain
11	chr4:75067600-75074800	Weak transcription	Brain Germinal Matrix	brain
12	chr4:75067800-75097000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr4:75068400-75075600	Weak transcription	Brain Hippocampus Middle	brain
14	chr4:75068400-75076800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr4:75068400-75082400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr4:75068400-75093000	Weak transcription	Thymus	Thymus
17	chr4:75068400-75096600	Weak transcription	Adipose Nuclei	Adipose
18	chr4:75068600-75075200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr4:75069600-75091000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:75070800-75074400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:75071400-75074800	Enhancers	NHEK	skin
22	chr4:75071800-75096400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr4:75072000-75075000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:75072200-75075000	Enhancers	K562	blood
25	chr4:75072200-75080200	Weak transcription	Fetal Intestine Small	intestine
26	chr4:75072200-75099200	Weak transcription	Ovary	ovary
27	chr4:75072400-75074600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:75072600-75074400	Flanking Active TSS	GM12878-XiMat	blood
29	chr4:75072600-75074600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:75072800-75074400	Enhancers	HSMMtube	muscle
31	chr4:75072800-75074600	Strong transcription	Liver	Liver
32	chr4:75072800-75075800	Weak transcription	Fetal Muscle Leg	muscle
33	chr4:75072800-75076000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr4:75072800-75080200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr4:75072800-75080400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr4:75073000-75092400	Weak transcription	Primary B cells from cord blood	blood
37	chr4:75073200-75075000	Strong transcription	Primary T cells from cord blood	blood
38	chr4:75073400-75075600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr4:75073800-75075000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr4:75073800-75080400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr4:75073800-75089400	Weak transcription	A549	lung
42	chr4:75073800-75089600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr4:75073800-75094400	Weak transcription	Brain Angular Gyrus	brain
44	chr4:75074000-75074400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr4:75074000-75076000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr4:75074000-75082800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr4:75074200-75079800	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr4:75074200-75080400	Weak transcription	Fetal Thymus	thymus
49	chr4:75074200-75082800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr4:75074200-75084000	Weak transcription	HMEC	breast

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