Variant report

Variant	rs113322874
Chromosome Location	chr1:214775709-214775710
allele	-/AG
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	TBL1XR1	chr1:214775653-214777040	K562	blood:	n/a	n/a
2	MXI1	chr1:214775707-214778478	SK-N-SH	brain:	n/a	n/a
3	MAX	chr1:214775699-214777751	A549	lung:	n/a	chr1:214776343-214776352 chr1:214776723-214776732 chr1:214776341-214776354 chr1:214776343-214776352 chr1:214776341-214776354 chr1:214776344-214776353 chr1:214776342-214776353 chr1:214776814-214776824 chr1:214776339-214776354 chr1:214776344-214776351 chr1:214776342-214776352 chr1:214776341-214776354 chr1:214776341-214776354 chr1:214775932-214775941 chr1:214776341-214776351 chr1:214776343-214776353 chr1:214776342-214776353 chr1:214776343-214776353
4	GATA1	chr1:214775337-214776917	PBDE	blood:	n/a	n/a
5	TBL1XR1	chr1:214775455-214776586	K562	blood:	n/a	n/a
6	ARID3A	chr1:214775385-214776694	K562	blood:	n/a	chr1:214776181-214776197
7	IRF1	chr1:214775680-214777799	K562	blood:	n/a	chr1:214777131-214777141 chr1:214777131-214777145

No.	Distal block	Cell Line	Cell type
1	chr1:214774784..214777425-chr1:214779446..214783969,6	K562	blood:
2	chr1:214723767..214726550-chr1:214774637..214776348,2	MCF-7	breast:
3	chr1:214773497..214776791-chr1:214785798..214789572,5	K562	blood:
4	chr1:214452363..214455450-chr1:214775239..214777636,3	K562	blood:

Variant related genes	Relation type
CENPF	TF binding region
ENSG00000143499	Chromatin interaction
ENSG00000224584	Chromatin interaction
ENSG00000152104	Chromatin interaction
ENSG00000250536	Chromatin interaction

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	nsv1004475	chr1:214763778-215013375	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv10993	chr1:214774207-214778763	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	esv1791911	chr1:214774278-214776936	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1005669	chr1:214774522-214994142	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214774200-214776000	Enhancers	HepG2	liver
2	chr1:214775400-214775800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:214775400-214776000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:214775400-214776200	Flanking Active TSS	K562	blood
5	chr1:214775600-214775800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr1:214775600-214775800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr1:214775600-214775800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr1:214775600-214775800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:214775600-214775800	Enhancers	Primary hematopoietic stem cells	blood
10	chr1:214775600-214775800	Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr1:214775600-214775800	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr1:214775600-214775800	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr1:214775600-214775800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr1:214775600-214775800	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr1:214775600-214775800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:214775600-214775800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:214775600-214775800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:214775600-214775800	Enhancers	Adipose Nuclei	Adipose
19	chr1:214775600-214775800	Enhancers	Fetal Kidney	kidney
20	chr1:214775600-214775800	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr1:214775600-214775800	Enhancers	Fetal Lung	lung
22	chr1:214775600-214775800	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr1:214775600-214775800	Enhancers	HMEC	breast
24	chr1:214775600-214775800	Enhancers	HUVEC	blood vessel
25	chr1:214775600-214775800	Enhancers	NHDF-Ad	bronchial
26	chr1:214775600-214776000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr1:214775600-214776000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr1:214775600-214776200	Flanking Active TSS	NHEK	skin
29	chr1:214775600-214776400	Flanking Active TSS	Dnd41	blood
30	chr1:214775600-214776800	Active TSS	Stomach Smooth Muscle	stomach
31	chr1:214775600-214777000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:214775600-214777200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:214775600-214777400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:214775600-214777800	Active TSS	A549	lung

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