Variant report

Variant	rs554780322
Chromosome Location	chr7:120496433-120496434
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120495769..120499665-chr7:120588624..120592417,7	MCF-7	breast:
2	chr7:120489201..120491293-chr7:120493630..120496553,2	MCF-7	breast:
3	chr7:120494775..120497431-chr7:120590834..120592743,2	K562	blood:

Variant related genes	Relation type
ENSG00000071243	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1818826	chr7:120405335-120622836	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv5929	chr7:120467591-120513472	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	esv3438279	chr7:120496341-120498889	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120474600-120496600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr7:120482800-120496600	Weak transcription	Stomach Mucosa	stomach
3	chr7:120483600-120496600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:120485200-120496600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:120485200-120496600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:120488200-120496600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:120488200-120496600	Weak transcription	Colonic Mucosa	Colon
8	chr7:120490600-120496800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr7:120492800-120496600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:120492800-120496600	Weak transcription	Gastric	stomach
11	chr7:120494400-120498200	Active TSS	GM12878-XiMat	blood
12	chr7:120495200-120496600	Active TSS	Right Atrium	heart
13	chr7:120495400-120496600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:120495800-120496600	Active TSS	Fetal Muscle Trunk	muscle
15	chr7:120495800-120498600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:120495800-120498600	Active TSS	Left Ventricle	heart
17	chr7:120496000-120497000	Flanking Active TSS	Fetal Intestine Large	intestine
18	chr7:120496000-120499000	Active TSS	Fetal Kidney	kidney
19	chr7:120496200-120496600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
20	chr7:120496200-120496600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:120496200-120496600	Active TSS	Duodenum Mucosa	Duodenum
22	chr7:120496200-120496600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
23	chr7:120496200-120496600	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
24	chr7:120496200-120496600	Enhancers	Small Intestine	intestine
25	chr7:120496200-120496800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
26	chr7:120496200-120498800	Active TSS	Aorta	Aorta
27	chr7:120496200-120498800	Active TSS	Colon Smooth Muscle	Colon
28	chr7:120496200-120499000	Active TSS	Right Ventricle	heart
29	chr7:120496400-120496600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr7:120496400-120496600	Enhancers	H1 Cell Line	embryonic stem cell
31	chr7:120496400-120496600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:120496400-120496600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
33	chr7:120496400-120496600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:120496400-120496600	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr7:120496400-120496600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr7:120496400-120496600	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr7:120496400-120496600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr7:120496400-120496600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr7:120496400-120496600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:120496400-120496600	Enhancers	Adipose Nuclei	Adipose
41	chr7:120496400-120496600	Enhancers	Liver	Liver
42	chr7:120496400-120496600	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr7:120496400-120496600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr7:120496400-120496600	Flanking Active TSS	Fetal Heart	heart
45	chr7:120496400-120496600	Active TSS	Fetal Intestine Small	intestine
46	chr7:120496400-120496600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr7:120496400-120496600	Enhancers	Fetal Lung	lung
48	chr7:120496400-120496600	Active TSS	Fetal Stomach	stomach
49	chr7:120496400-120496600	Enhancers	Ovary	ovary
50	chr7:120496400-120496600	Enhancers	Rectal Mucosa Donor 31	rectum

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