Variant report

Variant	rs539783743
Chromosome Location	chr1:9462598-9462599
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:9352813..9355064-chr1:9461860..9463608,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171621	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931984	chr1:8879337-9694749	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	570 gene(s)	inside rSNPs	diseases
2	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
3	esv3345013	chr1:9237327-9475707	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv871098	chr1:9371099-9469114	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1003190	chr1:9382452-9554553	Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv534850	chr1:9382452-9554553	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv1013224	chr1:9441040-9699768	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv1014975	chr1:9462254-9517118	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv534851	chr1:9462254-9517118	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9457000-9462600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:9457000-9463400	Enhancers	HUVEC	blood vessel
3	chr1:9457600-9463400	Enhancers	Thymus	Thymus
4	chr1:9457600-9468000	Enhancers	Fetal Thymus	thymus
5	chr1:9457800-9462600	Enhancers	Brain Anterior Caudate	brain
6	chr1:9457800-9462600	Enhancers	Brain Hippocampus Middle	brain
7	chr1:9457800-9463200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:9458600-9464200	Weak transcription	Esophagus	oesophagus
9	chr1:9458800-9463200	Enhancers	Dnd41	blood
10	chr1:9459200-9463200	Enhancers	Right Ventricle	heart
11	chr1:9459400-9463200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:9459400-9463200	Enhancers	Fetal Heart	heart
13	chr1:9459400-9463200	Enhancers	NH-A	brain
14	chr1:9459600-9462600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:9459600-9462600	Enhancers	Ovary	ovary
16	chr1:9459600-9462600	Enhancers	A549	lung
17	chr1:9459600-9462600	Enhancers	NHLF	lung
18	chr1:9459600-9463200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:9459600-9463200	Enhancers	Right Atrium	heart
20	chr1:9459800-9462600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:9459800-9463200	Enhancers	Left Ventricle	heart
22	chr1:9459800-9464600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr1:9460200-9462600	Enhancers	Muscle Satellite Cultured Cells	--
24	chr1:9460200-9462600	Enhancers	Osteobl	bone
25	chr1:9460400-9462600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:9460600-9462600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:9460800-9462600	Enhancers	HSMM	muscle
28	chr1:9460800-9462800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr1:9460800-9465400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:9460800-9471000	Weak transcription	Fetal Lung	lung
31	chr1:9460800-9473000	Weak transcription	Aorta	Aorta
32	chr1:9461000-9473000	Weak transcription	Psoas Muscle	Psoas
33	chr1:9461200-9462600	Enhancers	Placenta	Placenta
34	chr1:9461200-9464200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:9461200-9464800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr1:9461200-9465400	Weak transcription	Primary B cells from peripheral blood	blood
37	chr1:9461200-9466000	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr1:9461200-9466200	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr1:9461200-9466400	Weak transcription	Primary B cells from cord blood	blood
40	chr1:9461200-9471000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr1:9461400-9462800	Weak transcription	Primary T cells from cord blood	blood
42	chr1:9461400-9463400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:9461400-9466000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:9461400-9466200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr1:9461400-9471000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr1:9461600-9462600	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr1:9461800-9462600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr1:9462000-9462600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr1:9462000-9463000	Weak transcription	Lung	lung
50	chr1:9462000-9466000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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