Variant report

Variant	rs56243848
Chromosome Location	chr4:7297333-7297334
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7193728..7194793-chr4:7297053..7298951,15	MCF-7	breast:
2	chr4:7195671..7196829-chr4:7297061..7298292,4	MCF-7	breast:
3	chr4:7200738..7202710-chr4:7296032..7298626,2	MCF-7	breast:
4	chr4:7192934..7196110-chr4:7296657..7299976,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184985	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs61035716	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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
15	nsv593569	chr4:7291363-7626136	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
16	nsv878548	chr4:7295154-7333152	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
17	nsv878549	chr4:7295154-7376694	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
18	esv3370746	chr4:7295476-7298224	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	esv3360093	chr4:7295751-7298099	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	esv3420338	chr4:7296151-7297649	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7293600-7300200	Weak transcription	Fetal Lung	lung
2	chr4:7293800-7304400	Weak transcription	Gastric	stomach
3	chr4:7296800-7297400	Enhancers	Fetal Brain Male	brain
4	chr4:7296800-7297800	Enhancers	Fetal Stomach	stomach
5	chr4:7296800-7298000	Enhancers	Right Ventricle	heart
6	chr4:7296800-7301800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:7297000-7297400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:7297000-7297400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr4:7297000-7297400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:7297000-7297400	Active TSS	Colon Smooth Muscle	Colon
11	chr4:7297000-7297400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
12	chr4:7297000-7297400	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr4:7297000-7297600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr4:7297000-7297600	Enhancers	Spleen	Spleen
15	chr4:7297000-7297600	Active TSS	HSMM	muscle
16	chr4:7297000-7297800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:7297000-7297800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr4:7297000-7297800	Enhancers	Fetal Muscle Leg	muscle
19	chr4:7297000-7297800	Enhancers	Left Ventricle	heart
20	chr4:7297000-7297800	Enhancers	Ovary	ovary
21	chr4:7297000-7297800	Enhancers	Right Atrium	heart
22	chr4:7297000-7298000	Enhancers	NH-A	brain
23	chr4:7297000-7302000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr4:7297000-7302000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr4:7297200-7297400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:7297200-7297400	Flanking Active TSS	Brain Germinal Matrix	brain
27	chr4:7297200-7297400	Active TSS	Brain Substantia Nigra	brain
28	chr4:7297200-7297400	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr4:7297200-7297600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:7297200-7297600	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:7297200-7297600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:7297200-7297600	Flanking Active TSS	Brain Cingulate Gyrus	brain
33	chr4:7297200-7297600	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr4:7297200-7297600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
35	chr4:7297200-7297600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr4:7297200-7297600	Flanking Active TSS	Colonic Mucosa	Colon
37	chr4:7297200-7297600	Enhancers	Lung	lung
38	chr4:7297200-7297600	Flanking Active TSS	Rectal Smooth Muscle	rectum
39	chr4:7297200-7297600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
40	chr4:7297200-7297800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr4:7297200-7297800	Bivalent Enhancer	Adipose Nuclei	Adipose
42	chr4:7297200-7297800	Enhancers	Liver	Liver
43	chr4:7297200-7297800	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr4:7297200-7298000	Enhancers	Brain Angular Gyrus	brain

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