Variant report

Variant	rs1095600
Chromosome Location	chr4:8360984-8360985
allele	C/T
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	POLR2A	chr4:8360910-8361296	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr4:8360856-8361331	H1-hESC	embryonic stem cell:	n/a	n/a
3	TCF12	chr4:8360955-8361351	H1-hESC	embryonic stem cell:	n/a	n/a
4	ZNF274	chr4:8360965-8361302	H1-hESC	embryonic stem cell:	n/a	n/a
5	JUND	chr4:8360957-8361245	H1-hESC	embryonic stem cell:	n/a	n/a

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:

Variant related genes	Relation type
ENSG00000251615	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1678273	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2279193	0.99[ASN][1000 genomes]
rs4696820	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7696540	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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
16	nsv966468	chr4:8358228-8374418	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1095600	ACOX3	cis	multi-tissue	Pritchard
rs1095600	RP11-774O3.3	cis	Skin Sun Exposed Lower leg	GTEx
rs1095600	ACOX3	Cis_1M	lymphoblastoid	RTeQTL
rs1095600	RP11-774O3.3	cis	Heart Left Ventricle	GTEx

Chromatin state (count:49 , 50 per page) page: 1

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	chr4:8354200-8366200	Weak transcription	Brain Substantia Nigra	brain
5	chr4:8354400-8366000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr4:8354400-8366000	Weak transcription	Brain Angular Gyrus	brain
7	chr4:8354400-8367000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr4:8354400-8367200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr4:8354600-8381000	Weak transcription	Right Atrium	heart
10	chr4:8355000-8366200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr4:8355400-8365400	Weak transcription	Left Ventricle	heart
12	chr4:8355400-8366000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr4:8355800-8366000	Weak transcription	Lung	lung
14	chr4:8355800-8366200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr4:8355800-8384800	Weak transcription	Fetal Lung	lung
16	chr4:8356200-8366200	Weak transcription	Thymus	Thymus
17	chr4:8357800-8361600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:8358400-8366000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr4:8358400-8366200	Weak transcription	HSMM	muscle
20	chr4:8358400-8366200	Weak transcription	HSMMtube	muscle
21	chr4:8358400-8366800	Weak transcription	Colon Smooth Muscle	Colon
22	chr4:8358600-8362400	Weak transcription	Fetal Heart	heart
23	chr4:8358600-8365800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr4:8358600-8368200	Weak transcription	Fetal Kidney	kidney
25	chr4:8358800-8361200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr4:8358800-8361200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr4:8358800-8366000	Weak transcription	Esophagus	oesophagus
28	chr4:8359000-8367200	Weak transcription	Gastric	stomach
29	chr4:8359200-8366800	Weak transcription	Brain Germinal Matrix	brain
30	chr4:8359600-8361000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:8359600-8366000	Weak transcription	Placenta	Placenta
32	chr4:8359800-8371800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr4:8360000-8361000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr4:8360000-8361000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr4:8360200-8361200	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr4:8360200-8361800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr4:8360200-8364000	Weak transcription	HMEC	breast
38	chr4:8360200-8364400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:8360200-8366200	Weak transcription	Ovary	ovary
40	chr4:8360200-8367000	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr4:8360400-8361000	Enhancers	H9 Cell Line	embryonic stem cell
42	chr4:8360400-8365000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr4:8360400-8365800	Weak transcription	Fetal Stomach	stomach
44	chr4:8360400-8366200	Weak transcription	Brain Anterior Caudate	brain
45	chr4:8360400-8367000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr4:8360400-8394000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:8360400-8395600	Weak transcription	NHEK	skin
48	chr4:8360800-8361200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
49	chr4:8360800-8361400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell

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