Variant report

Variant	rs548768567
Chromosome Location	chr4:128555494-128555495
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:128534491..128537175-chr4:128554257..128557179,2	MCF-7	breast:
2	chr4:128553197..128555974-chr4:128981706..128984336,2	K562	blood:

Variant related genes	Relation type
ENSG00000138709	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879915	chr4:128167093-129150590	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1029214	chr4:128292215-128683123	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv537247	chr4:128292215-128683123	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv817326	chr4:128292216-128915201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv879916	chr4:128422400-128694288	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv879917	chr4:128478408-128841252	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	esv1800085	chr4:128502675-128557864	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv830056	chr4:128517139-128676557	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv879918	chr4:128543742-128694288	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv879919	chr4:128543742-128697519	Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv879920	chr4:128554404-128694288	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv879921	chr4:128554404-128766074	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
13	nsv879922	chr4:128554404-128901402	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
14	nsv879923	chr4:128554404-129068179	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128553200-128555800	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr4:128553400-128555600	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr4:128553400-128555600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:128553400-128556000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:128553600-128555800	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr4:128553600-128555800	Active TSS	Fetal Brain Female	brain
7	chr4:128554600-128627400	Weak transcription	Pancreas	Pancrea
8	chr4:128554600-128644800	Weak transcription	Lung	lung
9	chr4:128554800-128556000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:128554800-128556000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:128554800-128556200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:128554800-128562400	Weak transcription	Aorta	Aorta
13	chr4:128554800-128562600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:128554800-128564600	Weak transcription	Left Ventricle	heart
15	chr4:128554800-128564800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr4:128554800-128564800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr4:128554800-128565000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr4:128554800-128566200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr4:128554800-128596600	Weak transcription	Fetal Muscle Leg	muscle
20	chr4:128554800-128604400	Weak transcription	Right Ventricle	heart
21	chr4:128555000-128555600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr4:128555000-128555600	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr4:128555000-128555600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr4:128555000-128556000	Weak transcription	Fetal Lung	lung
25	chr4:128555000-128556200	Enhancers	Fetal Brain Male	brain
26	chr4:128555000-128559800	Weak transcription	Adipose Nuclei	Adipose
27	chr4:128555000-128559800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr4:128555000-128560600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr4:128555000-128564800	Weak transcription	Colon Smooth Muscle	Colon
30	chr4:128555000-128564800	Weak transcription	Fetal Kidney	kidney
31	chr4:128555000-128566200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr4:128555000-128566200	Weak transcription	Fetal Intestine Small	intestine
33	chr4:128555000-128566200	Weak transcription	Fetal Stomach	stomach
34	chr4:128555000-128568200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr4:128555000-128570000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr4:128555000-128579400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr4:128555000-128608800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr4:128555200-128555600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:128555200-128555600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr4:128555200-128555600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr4:128555200-128555800	Enhancers	Muscle Satellite Cultured Cells	--
42	chr4:128555200-128555800	Enhancers	HSMM	muscle
43	chr4:128555200-128555800	Active TSS	NH-A	brain
44	chr4:128555200-128556000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr4:128555200-128556200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr4:128555200-128557000	Enhancers	Brain Anterior Caudate	brain
47	chr4:128555200-128557000	Weak transcription	Ovary	ovary
48	chr4:128555200-128559000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr4:128555200-128564200	Weak transcription	Brain Hippocampus Middle	brain
50	chr4:128555200-128564800	Weak transcription	H1 Cell Line	embryonic stem cell

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