Variant report

Variant	rs558090519
Chromosome Location	chr1:226259782-226259783
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226186633..226189098-chr1:226257320..226260557,3	K562	blood:
2	chr1:226258653..226260174-chr20:31207564..31209087,2	K562	blood:
3	chr1:226252549..226256033-chr1:226258651..226261482,3	MCF-7	breast:
4	chr1:226258835..226263842-chr1:226306097..226310860,6	K562	blood:
5	chr1:226259780..226262512-chr1:226298395..226301346,2	K562	blood:
6	chr1:226250289..226252180-chr1:226258604..226260585,2	MCF-7	breast:
7	chr1:226259247..226261395-chr1:226295322..226298055,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143751	Chromatin interaction
ENSG00000163041	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	nsv832747	chr1:226194143-226373415	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv873232	chr1:226242772-226375267	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
3	nsv945330	chr1:226259072-226259884	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226253000-226270400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:226253200-226260200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr1:226253200-226270400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:226253200-226270600	Weak transcription	Aorta	Aorta
5	chr1:226253400-226263000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:226253400-226263200	Strong transcription	Fetal Muscle Trunk	muscle
7	chr1:226253400-226263400	Strong transcription	Placenta	Placenta
8	chr1:226253600-226260200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr1:226253600-226261800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:226253600-226263400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:226253600-226270400	Weak transcription	Small Intestine	intestine
12	chr1:226253800-226260600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:226254000-226267400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:226254200-226260600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr1:226254200-226261200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:226254400-226263000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:226254600-226259800	Weak transcription	Colonic Mucosa	Colon
18	chr1:226254600-226259800	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr1:226254600-226260400	Strong transcription	Hela-S3	cervix
20	chr1:226254600-226260600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
21	chr1:226254600-226261200	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr1:226254600-226261200	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr1:226254600-226261200	Strong transcription	NH-A	brain
24	chr1:226254600-226261400	Strong transcription	Fetal Intestine Large	intestine
25	chr1:226254600-226261800	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr1:226254600-226261800	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr1:226254600-226261800	Strong transcription	HSMM	muscle
28	chr1:226254600-226262000	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:226254600-226262600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr1:226254600-226262600	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr1:226254600-226262800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:226254600-226262800	Strong transcription	Osteobl	bone
33	chr1:226254600-226263000	Strong transcription	HUVEC	blood vessel
34	chr1:226254600-226263200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:226254600-226263600	Strong transcription	Adipose Nuclei	Adipose
36	chr1:226254600-226263800	Strong transcription	Fetal Muscle Leg	muscle
37	chr1:226254600-226266000	Weak transcription	Psoas Muscle	Psoas
38	chr1:226254600-226270400	Weak transcription	Right Ventricle	heart
39	chr1:226254800-226262000	Strong transcription	Fetal Brain Female	brain
40	chr1:226254800-226262400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr1:226254800-226262600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:226254800-226263600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:226255000-226260800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:226255000-226261600	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr1:226255000-226261800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr1:226255000-226262000	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr1:226255000-226262600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:226255200-226262600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:226255200-226262600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr1:226255400-226260400	Strong transcription	H9 Cell Line	embryonic stem cell

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