Variant report

Variant	rs144530800
Chromosome Location	chr4:8358144-8358145
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	chr4:8356734..8359057-chr4:8360589..8363448,2	K562	blood:
2	chr4:8356411..8359057-chr4:8360589..8362711,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACOX3-1	chr4:8357038-8359103	ENSG00000251615
2	lnc-ACOX3-1	chr4:8356817-8359103	NONHSAT095088
3	lnc-HTRA3-4	chr4:8358049-8358702	NONHSAT095089
4	lnc-ACOX3-1	chr4:8356817-8360065	ENSG00000251615.3

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv878601	chr4:8214767-8440951	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1009011	chr4:8225669-8424831	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv470013	chr4:8315938-8377058	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv878605	chr4:8332057-8378959	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv878606	chr4:8349738-8377058	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv878607	chr4:8349738-8380857	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv878608	chr4:8349738-8386720	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv461219	chr4:8353829-8390646	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv593637	chr4:8353829-8390646	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
15	nsv526508	chr4:8357923-8371554	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8351600-8362800	Enhancers	Placenta Amnion	Placenta Amnion
2	chr4:8353400-8366200	Weak transcription	Aorta	Aorta
3	chr4:8353600-8366000	Weak transcription	Brain Hippocampus Middle	brain
4	chr4:8354200-8359400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:8354200-8360000	Weak transcription	Brain Anterior Caudate	brain
6	chr4:8354200-8366200	Weak transcription	Brain Substantia Nigra	brain
7	chr4:8354400-8366000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:8354400-8366000	Weak transcription	Brain Angular Gyrus	brain
9	chr4:8354400-8367000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr4:8354400-8367200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr4:8354600-8381000	Weak transcription	Right Atrium	heart
12	chr4:8355000-8358200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:8355000-8366200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr4:8355200-8358600	Weak transcription	Gastric	stomach
15	chr4:8355400-8365400	Weak transcription	Left Ventricle	heart
16	chr4:8355400-8366000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr4:8355800-8358400	Enhancers	HSMM	muscle
18	chr4:8355800-8358400	Enhancers	HSMMtube	muscle
19	chr4:8355800-8366000	Weak transcription	Lung	lung
20	chr4:8355800-8366200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr4:8355800-8384800	Weak transcription	Fetal Lung	lung
22	chr4:8356000-8358600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:8356200-8358400	Weak transcription	Fetal Thymus	thymus
24	chr4:8356200-8358800	Enhancers	Rectal Smooth Muscle	rectum
25	chr4:8356200-8366200	Weak transcription	Thymus	Thymus
26	chr4:8356400-8360200	Enhancers	HMEC	breast
27	chr4:8356600-8360400	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr4:8356800-8358400	Enhancers	Colon Smooth Muscle	Colon
29	chr4:8356800-8360000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:8356800-8360400	Enhancers	NHEK	skin
31	chr4:8357000-8358800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:8357000-8360400	Enhancers	Fetal Stomach	stomach
33	chr4:8357200-8358600	Enhancers	Stomach Smooth Muscle	stomach
34	chr4:8357600-8358600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
35	chr4:8357600-8358600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
36	chr4:8357600-8358600	Enhancers	Fetal Heart	heart
37	chr4:8357600-8358600	Enhancers	Fetal Kidney	kidney
38	chr4:8357600-8358800	Enhancers	Right Ventricle	heart
39	chr4:8357600-8359000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
40	chr4:8357600-8359400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
41	chr4:8357600-8360200	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr4:8357600-8360200	Enhancers	Ovary	ovary
43	chr4:8357600-8360600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr4:8357800-8358200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:8357800-8358200	Bivalent Enhancer	NH-A	brain
46	chr4:8357800-8358400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr4:8357800-8358400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr4:8357800-8358400	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr4:8357800-8359000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
50	chr4:8357800-8361600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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