Variant report

Variant	rs149224897
Chromosome Location	chr1:220425687-220425688
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr1:220425579-220425704	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220415502..220418514-chr1:220424873..220426907,3	K562	blood:

Variant related genes	Relation type
MORF4L1P1	TF binding region

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	nsv4643	chr1:220397642-220442231	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1001681	chr1:220425057-220548325	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv535298	chr1:220425057-220548325	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220384200-220425800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:220393000-220441000	Weak transcription	NHDF-Ad	bronchial
3	chr1:220393800-220425800	Weak transcription	Gastric	stomach
4	chr1:220401600-220425800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr1:220416000-220442600	Weak transcription	Fetal Heart	heart
6	chr1:220418200-220431400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr1:220420000-220427000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:220420400-220426000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr1:220420400-220426000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr1:220420400-220426400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:220420400-220426600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:220420400-220426800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
13	chr1:220420400-220426800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
14	chr1:220420400-220427000	ZNF genes & repeats	GM12878-XiMat	blood
15	chr1:220420600-220427400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
16	chr1:220421000-220436800	Weak transcription	Fetal Kidney	kidney
17	chr1:220422000-220426000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
18	chr1:220422000-220427000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:220422200-220426800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:220422200-220426800	ZNF genes & repeats	Dnd41	blood
21	chr1:220422600-220426600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:220422600-220426800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
23	chr1:220422800-220426400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:220423000-220443400	Weak transcription	Psoas Muscle	Psoas
25	chr1:220423200-220428200	Weak transcription	Stomach Mucosa	stomach
26	chr1:220423400-220425800	Weak transcription	Brain Anterior Caudate	brain
27	chr1:220423400-220425800	Weak transcription	Small Intestine	intestine
28	chr1:220423400-220425800	Weak transcription	NH-A	brain
29	chr1:220423400-220426800	Strong transcription	Osteobl	bone
30	chr1:220423400-220427400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:220423400-220443400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr1:220423400-220443400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr1:220423600-220425800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr1:220423600-220425800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr1:220423600-220425800	Weak transcription	Aorta	Aorta
36	chr1:220423600-220425800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:220423600-220425800	Weak transcription	Colonic Mucosa	Colon
38	chr1:220423600-220426600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:220423600-220426600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:220423600-220427000	Strong transcription	Brain Hippocampus Middle	brain
41	chr1:220423600-220427200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:220423600-220427200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:220423600-220427200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:220423600-220428600	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr1:220423600-220429000	Weak transcription	Brain Angular Gyrus	brain
46	chr1:220423600-220440400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr1:220423800-220425800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr1:220423800-220426800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr1:220423800-220426800	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr1:220423800-220426800	Strong transcription	HSMM	muscle

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