Variant report

Variant	rs183012520
Chromosome Location	chr1:220427107-220427108
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv945297	chr1:220426814-220434679	ZNF genes & repeats Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220393000-220441000	Weak transcription	NHDF-Ad	bronchial
2	chr1:220416000-220442600	Weak transcription	Fetal Heart	heart
3	chr1:220418200-220431400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr1:220420600-220427400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
5	chr1:220421000-220436800	Weak transcription	Fetal Kidney	kidney
6	chr1:220423000-220443400	Weak transcription	Psoas Muscle	Psoas
7	chr1:220423200-220428200	Weak transcription	Stomach Mucosa	stomach
8	chr1:220423400-220427400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:220423400-220443400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:220423400-220443400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:220423600-220427200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:220423600-220427200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:220423600-220427200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:220423600-220428600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr1:220423600-220429000	Weak transcription	Brain Angular Gyrus	brain
16	chr1:220423600-220440400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr1:220423800-220427400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:220423800-220427600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:220423800-220427800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:220423800-220430000	Weak transcription	Fetal Brain Male	brain
21	chr1:220423800-220442600	Weak transcription	Hela-S3	cervix
22	chr1:220424400-220439600	Weak transcription	HMEC	breast
23	chr1:220425000-220427400	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr1:220425200-220427200	Strong transcription	Liver	Liver
25	chr1:220425200-220427400	Strong transcription	Fetal Muscle Leg	muscle
26	chr1:220425200-220427400	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr1:220425200-220431400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:220425200-220443400	Weak transcription	HUVEC	blood vessel
29	chr1:220425400-220427200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
30	chr1:220425400-220427400	Strong transcription	K562	blood
31	chr1:220425400-220427400	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr1:220425400-220427600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:220425800-220427400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr1:220426200-220433200	Weak transcription	Primary B cells from cord blood	blood
35	chr1:220426200-220440200	Weak transcription	Gastric	stomach
36	chr1:220426200-220441800	Weak transcription	Small Intestine	intestine
37	chr1:220426400-220427400	Strong transcription	Fetal Thymus	thymus
38	chr1:220426400-220427800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:220426400-220439600	Weak transcription	HSMMtube	muscle
40	chr1:220426600-220429200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:220426600-220429200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:220426600-220429400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr1:220426600-220430400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr1:220426600-220435800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr1:220426600-220436400	Weak transcription	A549	lung
46	chr1:220426600-220436800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:220426600-220439000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr1:220426600-220439800	Weak transcription	NHEK	skin
49	chr1:220426600-220440000	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr1:220426600-220440200	Weak transcription	NHLF	lung

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