Variant report

Variant	rs568801539
Chromosome Location	chr4:7289618-7289619
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7282808..7284476-chr4:7287220..7289819,2	K562	blood:
2	chr4:7282916..7284476-chr4:7287220..7289745,2	K562	blood:
3	chr4:7288760..7290651-chr4:7292846..7295423,2	MCF-7	breast:
4	chr4:7277788..7279515-chr4:7289410..7291563,2	MCF-7	breast:

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	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv829850	chr4:7112509-7314016	Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv432556	chr4:7174993-7391948	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
4	nsv878541	chr4:7211197-7341243	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
5	nsv916610	chr4:7238883-7731946	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
6	nsv461200	chr4:7256620-7297506	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv593567	chr4:7256620-7297506	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv461201	chr4:7256620-7311399	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv593568	chr4:7256620-7311399	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv878543	chr4:7282506-7353052	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
11	nsv878544	chr4:7285356-7359966	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
12	nsv878545	chr4:7285356-7363007	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
13	nsv878546	chr4:7285356-7376694	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
14	nsv878547	chr4:7289113-7376694	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7278800-7292800	Weak transcription	Right Atrium	heart
2	chr4:7281400-7293200	Weak transcription	Ovary	ovary
3	chr4:7282000-7289800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:7283400-7297000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:7287000-7290000	Enhancers	Brain Substantia Nigra	brain
6	chr4:7287000-7290000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr4:7287000-7290200	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr4:7287200-7290000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr4:7287200-7294400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:7287600-7290000	Enhancers	Brain Hippocampus Middle	brain
11	chr4:7287600-7293400	Weak transcription	Fetal Brain Female	brain
12	chr4:7287800-7290000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr4:7288000-7293400	Weak transcription	Brain Angular Gyrus	brain
14	chr4:7288200-7293200	Weak transcription	Fetal Lung	lung
15	chr4:7288800-7294000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:7289000-7290200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:7289200-7290800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr4:7289200-7291200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr4:7289200-7293000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr4:7289200-7296800	Weak transcription	Fetal Brain Male	brain
21	chr4:7289400-7289800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:7289400-7290000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr4:7289400-7290200	Enhancers	Brain Germinal Matrix	brain
24	chr4:7289400-7291000	Weak transcription	Brain Anterior Caudate	brain
25	chr4:7289600-7289800	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:7289600-7290000	Enhancers	Fetal Stomach	stomach
27	chr4:7289600-7290200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:7289600-7290400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr4:7289600-7290800	Weak transcription	Colon Smooth Muscle	Colon

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