Variant report

Variant	rs548227572
Chromosome Location	chr4:3308550-3308551
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:3297413..3300399-chr4:3305342..3309576,4	MCF-7	breast:
2	chr4:3297687..3301019-chr4:3306995..3308843,3	K562	blood:
3	chr4:3307561..3309945-chr4:3316347..3319248,2	MCF-7	breast:
4	chr4:3293251..3296512-chr4:3305842..3309963,7	MCF-7	breast:
5	chr4:3299967..3302345-chr4:3306185..3308779,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000159788	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv998290	chr4:3176454-3355758	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv878455	chr4:3215835-3344891	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS 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	10 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv878459	chr4:3235518-3310831	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv878461	chr4:3270488-3339038	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv593440	chr4:3283422-3339038	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv461165	chr4:3283422-3342137	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
11	nsv593441	chr4:3283422-3342137	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
12	nsv966506	chr4:3308550-3320391	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3294600-3308800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:3296600-3318600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr4:3299200-3310000	Enhancers	HUVEC	blood vessel
4	chr4:3299600-3318600	Weak transcription	Aorta	Aorta
5	chr4:3300800-3309000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr4:3301000-3310400	Enhancers	Fetal Muscle Leg	muscle
7	chr4:3301200-3350000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr4:3301600-3312400	Enhancers	Fetal Muscle Trunk	muscle
9	chr4:3303200-3310800	Enhancers	Fetal Brain Male	brain
10	chr4:3303600-3310600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr4:3304000-3313000	Weak transcription	HepG2	liver
12	chr4:3304200-3310600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:3304400-3309800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:3304400-3310600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr4:3304600-3309000	Enhancers	Primary hematopoietic stem cells	blood
16	chr4:3304800-3308600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:3304800-3318600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:3305000-3308600	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr4:3305000-3309000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr4:3305000-3309200	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr4:3305600-3308600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:3306000-3309800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr4:3306000-3310400	Enhancers	Spleen	Spleen
24	chr4:3306200-3308600	Enhancers	Left Ventricle	heart
25	chr4:3306400-3308600	Enhancers	HSMMtube	muscle
26	chr4:3306600-3309800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr4:3306600-3312600	Enhancers	Lung	lung
28	chr4:3306600-3320600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr4:3306800-3308600	Enhancers	Ovary	ovary
30	chr4:3306800-3308600	Enhancers	Pancreas	Pancrea
31	chr4:3306800-3312400	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr4:3306800-3312800	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr4:3307000-3308600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:3307000-3308600	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr4:3307000-3308600	Enhancers	Adipose Nuclei	Adipose
36	chr4:3307000-3308600	Enhancers	Brain Angular Gyrus	brain
37	chr4:3307000-3308600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr4:3307000-3308600	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr4:3307000-3309800	Enhancers	Brain Cingulate Gyrus	brain
40	chr4:3307000-3310600	Enhancers	Brain Germinal Matrix	brain
41	chr4:3307000-3310600	Enhancers	Fetal Brain Female	brain
42	chr4:3307000-3320600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr4:3307200-3308600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr4:3307200-3308600	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr4:3307200-3309200	Enhancers	Stomach Smooth Muscle	stomach
46	chr4:3307200-3318000	Weak transcription	Liver	Liver
47	chr4:3307200-3327000	Weak transcription	Fetal Kidney	kidney
48	chr4:3307400-3308600	Enhancers	Brain Substantia Nigra	brain
49	chr4:3307400-3312200	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr4:3307400-3325600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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