Variant report

Variant	rs553353709
Chromosome Location	chr1:220927256-220927257
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220922191..220924696-chr1:220926273..220928216,2	MCF-7	breast:
2	chr1:220925438..220927343-chr1:220929690..220931741,2	K562	blood:
3	chr1:220926710..220928570-chr1:220929149..220931113,2	MCF-7	breast:
4	chr1:220920532..220923272-chr1:220926936..220929369,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117791	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754270	chr1:220850116-220929155	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv523389	chr1:220926844-220956012	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220922400-220932200	Weak transcription	HSMMtube	muscle
2	chr1:220922600-220928800	Weak transcription	Brain Substantia Nigra	brain
3	chr1:220922600-220929400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:220922600-220929400	Weak transcription	Esophagus	oesophagus
5	chr1:220922600-220931000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:220922600-220943800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:220922600-220946400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:220922800-220929000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:220922800-220959600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:220922800-220959600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:220923200-220927400	Enhancers	Pancreas	Pancrea
12	chr1:220923200-220930400	Weak transcription	Spleen	Spleen
13	chr1:220923200-220948000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:220923800-220928200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:220923800-220928200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:220923800-220928200	Weak transcription	Placenta	Placenta
17	chr1:220923800-220928400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:220924000-220927400	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr1:220924000-220927600	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr1:220924000-220928400	Weak transcription	Aorta	Aorta
21	chr1:220924000-220928600	Weak transcription	A549	lung
22	chr1:220924200-220928200	Weak transcription	HUVEC	blood vessel
23	chr1:220924200-220929200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:220924200-220931000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr1:220924200-220936000	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr1:220924400-220927800	Enhancers	Left Ventricle	heart
27	chr1:220924400-220928000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:220924400-220928400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:220924400-220928400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:220924600-220936800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:220924600-220944000	Weak transcription	Brain Hippocampus Middle	brain
32	chr1:220924800-220928000	Weak transcription	Fetal Stomach	stomach
33	chr1:220924800-220928400	Weak transcription	Brain Anterior Caudate	brain
34	chr1:220924800-220931200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr1:220924800-220945600	Weak transcription	Osteobl	bone
36	chr1:220925000-220927600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr1:220925000-220928400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr1:220925000-220928400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr1:220925000-220929000	Weak transcription	Brain Germinal Matrix	brain
40	chr1:220925000-220946000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr1:220925000-220959400	Weak transcription	Brain Angular Gyrus	brain
42	chr1:220925200-220927800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:220925200-220928000	Weak transcription	Colonic Mucosa	Colon
44	chr1:220925200-220928200	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr1:220925200-220928400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:220925200-220928400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr1:220925200-220929200	Weak transcription	Colon Smooth Muscle	Colon
48	chr1:220925200-220942000	Weak transcription	Rectal Smooth Muscle	rectum
49	chr1:220925200-220943400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr1:220925400-220927400	Weak transcription	Fetal Kidney	kidney

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