Variant report

Variant	rs578022709
Chromosome Location	chr1:186295452-186295453
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	POLR2A	chr1:186294243-186295617	K562	blood:	n/a	n/a
2	STAT3	chr1:186295444-186295557	MCF10A-Er-Src	breast:	n/a	chr1:186295454-186295463

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:186293570..186295625-chr1:186311074..186313288,2	K562	blood:

Variant related genes	Relation type
TPR	TF binding region
ENSG00000047410	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	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3394491	chr1:186295429-186297527	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186272000-186306000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:186277600-186342600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:186277800-186297000	Strong transcription	Primary B cells from cord blood	blood
4	chr1:186278400-186342600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr1:186278800-186320400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:186279400-186295800	Strong transcription	A549	lung
7	chr1:186279400-186342400	Strong transcription	Fetal Thymus	thymus
8	chr1:186279600-186317600	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr1:186279600-186342400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:186280000-186317600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:186280000-186320200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:186280000-186340400	Strong transcription	Dnd41	blood
13	chr1:186280000-186342000	Strong transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:186280000-186342400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:186280000-186342400	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr1:186280000-186342400	Strong transcription	Osteobl	bone
17	chr1:186280000-186342600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:186280000-186342600	Strong transcription	HSMM	muscle
19	chr1:186280200-186295800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:186280200-186297200	Strong transcription	Stomach Smooth Muscle	stomach
21	chr1:186280200-186316800	Strong transcription	Placenta	Placenta
22	chr1:186280200-186342200	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:186280400-186317600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:186280400-186317600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:186280400-186342400	Strong transcription	Primary B cells from peripheral blood	blood
26	chr1:186280800-186342600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr1:186281000-186341800	Strong transcription	Liver	Liver
28	chr1:186281000-186342600	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:186281200-186295800	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr1:186281200-186297400	Strong transcription	NHDF-Ad	bronchial
31	chr1:186281200-186297600	Strong transcription	Fetal Intestine Large	intestine
32	chr1:186281200-186317600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:186281200-186317800	Strong transcription	HUVEC	blood vessel
34	chr1:186281200-186338200	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr1:186281200-186341400	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr1:186281200-186341800	Strong transcription	Adipose Nuclei	Adipose
37	chr1:186281200-186342200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr1:186281200-186342200	Strong transcription	NH-A	brain
39	chr1:186281400-186295600	Strong transcription	Fetal Lung	lung
40	chr1:186281400-186297600	Strong transcription	Fetal Muscle Trunk	muscle
41	chr1:186281400-186341600	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr1:186281400-186342000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:186281400-186342000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr1:186281400-186342000	Strong transcription	Duodenum Mucosa	Duodenum
45	chr1:186281400-186342200	Strong transcription	Hela-S3	cervix
46	chr1:186281400-186342400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:186281400-186342600	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr1:186281600-186297200	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr1:186281800-186335600	Strong transcription	HMEC	breast
50	chr1:186281800-186342200	Strong transcription	K562	blood

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