Variant report

Variant	rs548506842
Chromosome Location	chr15:75499994-75499995
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:75314737..75326433-chr15:75490770..75500610,30	K562	blood:
2	chr15:75312886..75327225-chr15:75491522..75500922,36	K562	blood:
3	chr15:75314704..75323577-chr15:75491522..75500562,29	MCF-7	breast:
4	chr15:75470764..75472430-chr15:75499470..75502455,2	K562	blood:
5	chr15:75314427..75332274-chr15:75491598..75502885,56	MCF-7	breast:
6	chr15:75337372..75339109-chr15:75499292..75501043,2	K562	blood:

Variant related genes	Relation type
ENSG00000260483	Chromatin interaction
ENSG00000138621	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904383	chr15:75382542-75520378	Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv1796196	chr15:75389382-75531124	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1039713	chr15:75394213-75674389	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	nsv1037713	chr15:75401213-75665304	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	nsv1053212	chr15:75428467-75534408	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv833056	chr15:75452947-75614590	Enhancers Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv904384	chr15:75493823-75520378	Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv569995	chr15:75493823-75537475	Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv569996	chr15:75493823-75540491	Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
10	nsv904385	chr15:75493823-75546700	Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
11	nsv482859	chr15:75493899-75688451	Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh 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	94 gene(s)	inside rSNPs	diseases
12	esv3357572	chr15:75499749-75502247	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75495800-75500000	Weak transcription	Brain Germinal Matrix	brain
2	chr15:75496200-75506000	Weak transcription	Fetal Brain Female	brain
3	chr15:75496400-75500400	Weak transcription	Right Atrium	heart
4	chr15:75496400-75504000	Weak transcription	HSMMtube	muscle
5	chr15:75496400-75506000	Weak transcription	Psoas Muscle	Psoas
6	chr15:75496600-75501600	Weak transcription	Brain Substantia Nigra	brain
7	chr15:75496600-75506600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr15:75496800-75500400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr15:75496800-75507200	Weak transcription	NH-A	brain
10	chr15:75497200-75500200	Weak transcription	Brain Anterior Caudate	brain
11	chr15:75497600-75500200	Weak transcription	NHDF-Ad	bronchial
12	chr15:75497600-75500400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr15:75497600-75500600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr15:75497600-75501000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr15:75497600-75501200	Weak transcription	Brain Angular Gyrus	brain
16	chr15:75497600-75501400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr15:75497600-75501400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr15:75497600-75501600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr15:75497600-75507000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr15:75497800-75500200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr15:75497800-75500200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr15:75497800-75500400	Strong transcription	Dnd41	blood
23	chr15:75497800-75500600	Weak transcription	Fetal Heart	heart
24	chr15:75497800-75501200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr15:75497800-75501400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr15:75497800-75501800	Strong transcription	Fetal Thymus	thymus
27	chr15:75497800-75502200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr15:75497800-75504200	Strong transcription	Hela-S3	cervix
29	chr15:75497800-75505200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr15:75497800-75506400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr15:75498000-75500200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr15:75498000-75500400	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr15:75498000-75501200	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr15:75498000-75501200	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr15:75498000-75502000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr15:75498000-75502000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr15:75498000-75502800	Genic enhancers	Monocytes-CD14+_RO01746	blood
38	chr15:75498000-75503000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr15:75498000-75503000	Genic enhancers	Duodenum Mucosa	Duodenum
40	chr15:75498000-75503000	Strong transcription	NHEK	skin
41	chr15:75498000-75503200	Genic enhancers	Placenta	Placenta
42	chr15:75498000-75504000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
43	chr15:75498000-75504200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr15:75498000-75504400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr15:75498000-75505800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr15:75498000-75505800	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr15:75498000-75506000	Strong transcription	Thymus	Thymus
48	chr15:75498000-75507000	Genic enhancers	Spleen	Spleen
49	chr15:75498200-75500200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr15:75498200-75500400	Strong transcription	Lung	lung

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