Variant report

Variant	rs530433362
Chromosome Location	chr4:3405462-3405463
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:3403927..3406519-chr4:3415775..3417384,2	MCF-7	breast:
2	chr4:3403449..3406245-chr4:3407590..3409383,2	K562	blood:
3	chr4:3402342..3405692-chr4:3412930..3417248,3	K562	blood:
4	chr4:3391529..3394240-chr4:3404646..3406512,2	K562	blood:
5	chr4:3404717..3407147-chr4:3410675..3413759,3	MCF-7	breast:
6	chr4:3388642..3391528-chr4:3405332..3407484,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000159788	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv878456	chr4:3215835-3467519	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS 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	13 gene(s)	inside rSNPs	diseases
4	nsv428106	chr4:3226182-3752322	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv878462	chr4:3311548-3505448	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv1007847	chr4:3317904-3527357	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv537001	chr4:3317904-3527357	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv878463	chr4:3363994-3498896	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv428435	chr4:3386773-3623321	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
10	nsv933265	chr4:3392824-4283640	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
11	esv2757918	chr4:3394344-4350986	Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
12	esv2759219	chr4:3394344-4350986	Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
13	nsv461166	chr4:3405165-3451109	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv593450	chr4:3405165-3451109	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv878464	chr4:3405165-3505448	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv878465	chr4:3405165-3566567	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3390000-3417200	Weak transcription	Gastric	stomach
2	chr4:3391000-3414000	Weak transcription	Primary T cells from cord blood	blood
3	chr4:3391400-3407400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr4:3391400-3408800	Weak transcription	Ovary	ovary
5	chr4:3391600-3407800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr4:3391800-3424200	Weak transcription	Colonic Mucosa	Colon
7	chr4:3392000-3417200	Weak transcription	Pancreas	Pancrea
8	chr4:3392400-3409800	Weak transcription	Spleen	Spleen
9	chr4:3393800-3405600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr4:3395800-3406000	Weak transcription	HepG2	liver
11	chr4:3396000-3406000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr4:3398400-3405600	Weak transcription	Fetal Brain Female	brain
13	chr4:3398400-3405800	Weak transcription	Fetal Lung	lung
14	chr4:3399000-3406200	Weak transcription	Adipose Nuclei	Adipose
15	chr4:3399200-3408800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr4:3399200-3432200	Weak transcription	Right Atrium	heart
17	chr4:3401400-3405600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:3401600-3416200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr4:3401800-3406200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:3401800-3407800	Weak transcription	Liver	Liver
21	chr4:3401800-3416000	Weak transcription	Right Ventricle	heart
22	chr4:3402000-3408200	Weak transcription	Brain Anterior Caudate	brain
23	chr4:3403000-3405800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:3403200-3406000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr4:3403200-3406200	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr4:3403200-3409200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:3403400-3417200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr4:3403600-3405600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:3403800-3406000	Weak transcription	NHEK	skin
30	chr4:3404000-3406800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr4:3404400-3405600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr4:3404400-3405800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr4:3404600-3407400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:3404800-3407000	ZNF genes & repeats	Fetal Intestine Small	intestine
35	chr4:3404800-3407200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr4:3404800-3414200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr4:3405000-3406200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr4:3405000-3406200	Weak transcription	Lung	lung
39	chr4:3405000-3410800	Strong transcription	Esophagus	oesophagus
40	chr4:3405000-3415000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr4:3405200-3405800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr4:3405200-3405800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:3405200-3406000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:3405200-3406000	Weak transcription	HMEC	breast
45	chr4:3405200-3406400	Weak transcription	Aorta	Aorta
46	chr4:3405200-3406800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
47	chr4:3405200-3406800	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr4:3405200-3415800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr4:3405200-3418800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr4:3405400-3406200	Weak transcription	HSMM	muscle

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