Variant report

Variant	rs375166192
Chromosome Location	chr1:77747034-77747035
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	REST	chr1:77746941-77748101	H1-neurons	neurons:	n/a	chr1:77747667-77747680 chr1:77746990-77747008 chr1:77747814-77747824 chr1:77747609-77747622 chr1:77747641-77747651

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:77684670..77686781-chr1:77746398..77749229,3	MCF-7	breast:

Variant related genes	Relation type
AK5	TF binding region
ENSG00000142892	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	nsv1005183	chr1:77728990-77949309	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv535010	chr1:77728990-77949309	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv932557	chr1:77730247-77958687	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv3427970	chr1:77746994-77747339	Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77737200-77747400	Weak transcription	Aorta	Aorta
2	chr1:77745200-77747200	Enhancers	Primary T cells fromperipheralblood	blood
3	chr1:77745200-77747200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr1:77745200-77747200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr1:77745200-77747800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
6	chr1:77745400-77747400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
7	chr1:77745600-77747200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:77745600-77747800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
9	chr1:77745800-77747200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
10	chr1:77745800-77747400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr1:77746000-77747200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:77746000-77747200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:77746000-77747200	Enhancers	Brain Hippocampus Middle	brain
14	chr1:77746200-77747200	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr1:77746200-77747200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:77746400-77747200	Bivalent Enhancer	Primary B cells from cord blood	blood
17	chr1:77746400-77747200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:77746400-77747400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr1:77746600-77747200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr1:77746600-77747200	Enhancers	Brain Anterior Caudate	brain
21	chr1:77746600-77749000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
22	chr1:77746800-77747200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:77746800-77747200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:77746800-77747200	Enhancers	Brain Cingulate Gyrus	brain
25	chr1:77746800-77747600	Bivalent/Poised TSS	Fetal Kidney	kidney
26	chr1:77746800-77748400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:77746800-77749200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
28	chr1:77746800-77749400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
29	chr1:77746800-77749600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
30	chr1:77747000-77747200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
31	chr1:77747000-77747200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
32	chr1:77747000-77747200	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:77747000-77747200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr1:77747000-77747200	Active TSS	Fetal Brain Female	brain
35	chr1:77747000-77747200	Active TSS	NHDF-Ad	bronchial
36	chr1:77747000-77747400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
37	chr1:77747000-77747400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
38	chr1:77747000-77747400	Flanking Active TSS	Primary T cells from cord blood	blood
39	chr1:77747000-77747400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
40	chr1:77747000-77747400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr1:77747000-77747400	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
42	chr1:77747000-77747400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:77747000-77747400	Flanking Active TSS	Brain Angular Gyrus	brain
44	chr1:77747000-77748000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:77747000-77748000	Bivalent/Poised TSS	HUVEC	blood vessel
46	chr1:77747000-77748200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:77747000-77748600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:77747000-77749000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
49	chr1:77747000-77749400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
50	chr1:77747000-77749600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

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