Variant report

Variant	rs76044267
Chromosome Location	chr4:58048492-58048493
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:58047640..58050466-chr4:58055836..58057973,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1010053	chr4:57978944-58331324	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv594207	chr4:57987433-58098554	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1001702	chr4:58035352-58100571	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv2755175	chr4:58035372-58081172	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv461359	chr4:58041751-58098554	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv594208	chr4:58041751-58098554	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv879026	chr4:58041751-58098554	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1008288	chr4:58044430-58103544	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1011599	chr4:58046924-58088682	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1005784	chr4:58046924-58096874	Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv1014384	chr4:58046924-58100571	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv997272	chr4:58047609-58100571	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:58047400-58059600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:58047800-58048600	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr4:58047800-58049000	Enhancers	Fetal Muscle Leg	muscle
4	chr4:58047800-58049000	Enhancers	HSMMtube	muscle
5	chr4:58047800-58049200	Enhancers	Brain Substantia Nigra	brain
6	chr4:58047800-58049400	Enhancers	Brain Hippocampus Middle	brain
7	chr4:58048000-58048600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr4:58048000-58048800	Enhancers	Spleen	Spleen
9	chr4:58048000-58049000	Enhancers	Brain Anterior Caudate	brain
10	chr4:58048000-58049800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr4:58048200-58049000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:58048200-58049000	Enhancers	Brain Angular Gyrus	brain
13	chr4:58048400-58048600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:58048400-58048600	Enhancers	Brain Cingulate Gyrus	brain
15	chr4:58048400-58048600	Enhancers	Brain Germinal Matrix	brain
16	chr4:58048400-58048800	Enhancers	Fetal Muscle Trunk	muscle
17	chr4:58048400-58048800	Enhancers	Left Ventricle	heart
18	chr4:58048400-58048800	Enhancers	Right Ventricle	heart
19	chr4:58048400-58049000	Enhancers	Fetal Heart	heart
20	chr4:58048400-58049000	Enhancers	HSMM	muscle

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