Variant report

Variant	rs55947434
Chromosome Location	chr1:78181654-78181655
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	chr1:78179000-78182032	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:78180765..78183138-chr1:78468320..78471270,2	MCF-7	breast:

Variant related genes	Relation type
USP33	TF binding region
ENSG00000162616	Chromatin interaction
ENSG00000273338	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12021502	1.00[AFR][1000 genomes]
rs17382879	1.00[AFR][1000 genomes]
rs17382996	1.00[AFR][1000 genomes]
rs1960060	1.00[AFR][1000 genomes]
rs2274124	1.00[AFR][1000 genomes]
rs61729829	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv870709	chr1:78016517-78198322	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv830303	chr1:78090824-78308765	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv1794082	chr1:78102426-78492221	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
6	esv1796958	chr1:78138955-78267421	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	esv1798160	chr1:78149941-78267421	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78161000-78187400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:78168600-78186000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:78171200-78184200	Strong transcription	Primary B cells from cord blood	blood
4	chr1:78171400-78182400	Strong transcription	Primary hematopoietic stem cells	blood
5	chr1:78171400-78184600	Strong transcription	Rectal Mucosa Donor 31	rectum
6	chr1:78171400-78206600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:78171600-78199000	Strong transcription	Adipose Nuclei	Adipose
8	chr1:78171600-78207400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:78171800-78184600	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr1:78171800-78197600	Strong transcription	Duodenum Mucosa	Duodenum
11	chr1:78171800-78198000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:78171800-78200200	Strong transcription	Fetal Lung	lung
13	chr1:78171800-78205600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:78171800-78206800	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr1:78171800-78206800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:78171800-78206800	Strong transcription	Placenta	Placenta
17	chr1:78171800-78207000	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr1:78171800-78207200	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr1:78172000-78182400	Strong transcription	Stomach Smooth Muscle	stomach
20	chr1:78172000-78197800	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr1:78172000-78198800	Strong transcription	Primary T cells from cord blood	blood
22	chr1:78172000-78206000	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr1:78172200-78183600	Strong transcription	Liver	Liver
24	chr1:78172200-78184200	Strong transcription	Primary B cells from peripheral blood	blood
25	chr1:78172200-78184400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:78172200-78188200	Strong transcription	Fetal Muscle Trunk	muscle
27	chr1:78172200-78195800	Strong transcription	Fetal Thymus	thymus
28	chr1:78172200-78196200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr1:78172200-78197200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:78172200-78197800	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr1:78172200-78206600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:78172400-78197800	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr1:78172400-78200000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:78172400-78207600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr1:78172600-78183800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:78172600-78184200	Strong transcription	Dnd41	blood
37	chr1:78172600-78186400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr1:78172600-78195600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:78172600-78198200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:78172600-78205000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:78172800-78184400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr1:78172800-78184800	Strong transcription	Osteobl	bone
43	chr1:78173000-78184000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
44	chr1:78173000-78184400	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr1:78173000-78184600	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr1:78173200-78186800	Weak transcription	A549	lung
47	chr1:78173200-78198400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr1:78173600-78184400	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr1:78173600-78184400	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr1:78173600-78184600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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