Variant report

Variant	rs549348388
Chromosome Location	chr19:21581461-21581462
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21581402..21583289-chr19:21587139..21589283,2	K562	blood:

Variant related genes	Relation type
ENSG00000196268	Chromatin interaction
ENSG00000269237	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3518033	chr19:21278465-21747567	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3518034	chr19:21278465-21747567	ZNF genes & repeats Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv3325271	chr19:21445407-21792817	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv911420	chr19:21454672-21613397	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking 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	15 gene(s)	inside rSNPs	diseases
6	esv2751783	chr19:21465822-21726337	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	esv3363678	chr19:21483148-21756908	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv578952	chr19:21535707-21868584	Genic enhancers Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	esv1793996	chr19:21544242-21609607	Active TSS Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	esv1801985	chr19:21544242-21609607	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	esv1844586	chr19:21544242-21609607	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	esv1834499	chr19:21557835-21609607	Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	esv1834993	chr19:21557835-21609607	Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv911421	chr19:21579718-21613397	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a
15	nsv978789	chr19:21579953-21589286	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21579000-21581600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr19:21579600-21581600	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr19:21579800-21581600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr19:21579800-21581600	Active TSS	Lung	lung
5	chr19:21579800-21581800	Active TSS	Psoas Muscle	Psoas
6	chr19:21580600-21581600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr19:21580600-21581600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr19:21580600-21581600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:21580600-21581600	Flanking Active TSS	Duodenum Mucosa	Duodenum
10	chr19:21580600-21581600	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr19:21580600-21582200	Weak transcription	A549	lung
12	chr19:21580600-21585000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr19:21580600-21592600	Weak transcription	Placenta	Placenta
14	chr19:21580600-21593200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr19:21580600-21593600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr19:21580600-21600200	Weak transcription	Gastric	stomach
17	chr19:21580600-21602400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr19:21580800-21581600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr19:21580800-21581600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr19:21580800-21581600	Flanking Active TSS	Brain Anterior Caudate	brain
21	chr19:21580800-21581600	Flanking Active TSS	Fetal Brain Female	brain
22	chr19:21580800-21581600	Enhancers	Fetal Heart	heart
23	chr19:21580800-21581600	Flanking Active TSS	Fetal Lung	lung
24	chr19:21580800-21581800	Enhancers	Placenta Amnion	Placenta Amnion
25	chr19:21580800-21582000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr19:21580800-21583000	Weak transcription	Fetal Muscle Leg	muscle
27	chr19:21580800-21595400	Weak transcription	HUVEC	blood vessel
28	chr19:21581000-21581600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr19:21581000-21581600	Enhancers	Primary B cells from cord blood	blood
30	chr19:21581000-21581600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr19:21581000-21581600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr19:21581000-21581600	Enhancers	Fetal Intestine Small	intestine
33	chr19:21581000-21581600	Enhancers	Right Ventricle	heart
34	chr19:21581000-21581600	ZNF genes & repeats	GM12878-XiMat	blood
35	chr19:21581000-21581800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr19:21581000-21582000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr19:21581000-21582000	Weak transcription	Fetal Intestine Large	intestine
38	chr19:21581000-21582600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr19:21581000-21583000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr19:21581000-21583000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr19:21581000-21583400	Weak transcription	Brain Substantia Nigra	brain
42	chr19:21581000-21583400	Weak transcription	NHDF-Ad	bronchial
43	chr19:21581000-21584600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr19:21581000-21591800	Weak transcription	Pancreas	Pancrea
45	chr19:21581000-21596200	Weak transcription	Aorta	Aorta
46	chr19:21581000-21598800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr19:21581200-21581600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr19:21581200-21581600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr19:21581200-21581600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr19:21581200-21581600	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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