Variant report

Variant	rs539048813
Chromosome Location	chr19:37075159-37075160
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37062757..37066475-chr19:37067178..37075829,11	K562	blood:

Variant related genes	Relation type
ENSG00000233527	Chromatin interaction
ENSG00000186020	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv833817	chr19:36978852-37195695	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
7	esv3334779	chr19:37050161-37076919	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	n/a
8	esv3434386	chr19:37073454-37114509	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37065600-37081200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:37065600-37095400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:37065800-37075200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:37065800-37076600	Weak transcription	Stomach Mucosa	stomach
5	chr19:37065800-37078200	Weak transcription	Right Ventricle	heart
6	chr19:37066000-37081200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr19:37066000-37081200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr19:37066600-37080600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr19:37066800-37081000	Strong transcription	Dnd41	blood
10	chr19:37066800-37091400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr19:37067000-37076200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr19:37067000-37076800	ZNF genes & repeats	GM12878-XiMat	blood
13	chr19:37067000-37080800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr19:37067000-37081200	ZNF genes & repeats	Liver	Liver
15	chr19:37067000-37081200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
16	chr19:37068000-37075200	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr19:37068800-37076000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr19:37068800-37083000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr19:37070000-37095400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr19:37070600-37078400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr19:37070800-37076000	Weak transcription	Brain Anterior Caudate	brain
22	chr19:37071400-37079000	Weak transcription	NH-A	brain
23	chr19:37072000-37076000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
24	chr19:37072000-37081800	Weak transcription	HUVEC	blood vessel
25	chr19:37072200-37079400	Weak transcription	NHDF-Ad	bronchial
26	chr19:37072400-37079200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr19:37072600-37075400	Weak transcription	Aorta	Aorta
28	chr19:37072600-37075800	Weak transcription	Thymus	Thymus
29	chr19:37072600-37077600	Weak transcription	HepG2	liver
30	chr19:37072600-37078400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr19:37072600-37078400	Weak transcription	Brain Angular Gyrus	brain
32	chr19:37072600-37078400	Weak transcription	Fetal Heart	heart
33	chr19:37072600-37079000	Weak transcription	Brain Substantia Nigra	brain
34	chr19:37072600-37079400	Weak transcription	Fetal Brain Male	brain
35	chr19:37072600-37080600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr19:37072600-37080600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr19:37072600-37081200	Weak transcription	NHLF	lung
38	chr19:37072600-37082000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr19:37072800-37075400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr19:37072800-37075800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr19:37072800-37075800	Weak transcription	NHEK	skin
42	chr19:37072800-37076000	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr19:37072800-37076000	Weak transcription	Fetal Muscle Trunk	muscle
44	chr19:37072800-37076200	Weak transcription	Fetal Thymus	thymus
45	chr19:37072800-37077600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr19:37072800-37078400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr19:37072800-37079800	Weak transcription	Pancreas	Pancrea
48	chr19:37072800-37080800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr19:37073000-37075400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr19:37073000-37075800	Weak transcription	Rectal Mucosa Donor 29	rectum

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