Variant report

Variant	rs553424889
Chromosome Location	chr4:87518648-87518649
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr4:87518635-87518653	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:87514311..87516955-chr4:87516961..87519676,2	MCF-7	breast:

Variant related genes	Relation type
MAPK10	TF binding region
ENSG00000163629	Chromatin interaction
ENSG00000109339	Chromatin interaction

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	nsv594786	chr4:87076360-87609320	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1012836	chr4:87279206-87643558	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	esv2757071	chr4:87417291-87689533	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription 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	6 gene(s)	inside rSNPs	diseases
5	esv2759264	chr4:87417291-87689533	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	nsv879522	chr4:87473776-87644842	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv822635	chr4:87479576-87622176	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv879523	chr4:87517609-87594472	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv879524	chr4:87517609-87603929	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87514000-87519000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:87514600-87518800	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr4:87516000-87520000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:87517000-87519000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:87517000-87536600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:87517200-87518800	Enhancers	Fetal Intestine Large	intestine
7	chr4:87517200-87519000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:87517200-87519400	Weak transcription	Esophagus	oesophagus
9	chr4:87517200-87529800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:87517400-87518800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:87517400-87519000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr4:87517400-87519000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:87517400-87520800	Weak transcription	Fetal Intestine Small	intestine
14	chr4:87517600-87518800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr4:87517600-87519000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr4:87517600-87521600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:87517800-87518800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:87517800-87518800	Weak transcription	Brain Angular Gyrus	brain
19	chr4:87517800-87519000	Enhancers	A549	lung
20	chr4:87517800-87519600	Enhancers	Fetal Lung	lung
21	chr4:87518000-87518800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr4:87518000-87518800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr4:87518000-87519600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:87518000-87521000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr4:87518200-87518800	Enhancers	Brain Cingulate Gyrus	brain
26	chr4:87518200-87519000	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr4:87518200-87519000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr4:87518200-87519000	Flanking Active TSS	NHDF-Ad	bronchial
29	chr4:87518200-87519000	Enhancers	Osteobl	bone
30	chr4:87518200-87519200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:87518200-87519200	Flanking Active TSS	NHEK	skin
32	chr4:87518200-87519400	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr4:87518400-87518800	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr4:87518400-87518800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr4:87518400-87518800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:87518400-87519000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr4:87518400-87519000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr4:87518400-87519000	Enhancers	Ovary	ovary
39	chr4:87518400-87519000	Flanking Active TSS	HMEC	breast
40	chr4:87518400-87519200	Enhancers	Adipose Nuclei	Adipose
41	chr4:87518400-87519200	Enhancers	Brain Substantia Nigra	brain
42	chr4:87518400-87519200	Enhancers	Hela-S3	cervix
43	chr4:87518600-87518800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr4:87518600-87518800	Active TSS	Brain Anterior Caudate	brain
45	chr4:87518600-87518800	Active TSS	Fetal Brain Male	brain
46	chr4:87518600-87519000	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr4:87518600-87519000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:87518600-87519000	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr4:87518600-87519000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr4:87518600-87519000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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